4852
(6.1%)

brachydactyly type A1A

Absent distal interphalangeal creases

Autosomal dominant inheritance Heterogeneous

4852
(6.1%)

hereditary spastic paraplegia 3A

Urinary urgency

Autosomal dominant inheritance Heterogeneous

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.

4852
(6.1%)

spondyloepimetaphyseal dysplasia, Missouri type

Platyspondyly

Autosomal dominant inheritance

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

4852
(6.1%)

spondyloepimetaphyseal dysplasia, Irapa type

Pectus carinatum

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.

4852
(6.1%)

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Hydrocephalus

X-linked dominant inheritance

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

4852
(6.1%)

Charcot-Marie-Tooth disease type 4B2

Sensorineural hearing impairment

Autosomal recessive inheritance Heterogeneous

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

4852
(6.1%)

spondyloepimetaphyseal dysplasia, aggrecan type

Malar flattening

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

4852
(6.1%)

Charcot-Marie-Tooth disease type 4C

Hearing impairment

Autosomal recessive inheritance Heterogeneous

Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.

4852
(6.1%)

Charcot-Marie-Tooth disease type 2E

High palate

Autosomal dominant inheritance

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

4852
(6.1%)

hereditary spastic paraplegia 16

Urinary urgency

X-linked recessive inheritance

A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.

4852
(6.1%)

rhizomelic chondrodysplasia punctata type 2

High palate

Autosomal recessive inheritance

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.

4852
(6.1%)

chromosome 8q21.11 deletion syndrome

Epicanthus

Autosomal dominant inheritance Sporadic

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.

4852
(6.1%)

Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Hyperorality

Autosomal dominant inheritance

A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.

4852
(6.1%)

Charcot-Marie-Tooth disease type 5

Sensory neuropathy

Autosomal dominant inheritance Heterogeneous

Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.

4852
(6.1%)

spastic paraplegia, intellectual disability, nystagmus, and obesity;

Full cheeks

Autosomal dominant inheritance

4852
(6.1%)

Hao-Fountain syndrome

Cryptorchidism

Autosomal dominant inheritance

A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene.

4852
(6.1%)

autosomal recessive spinocerebellar ataxia 13

Ptosis

Autosomal recessive inheritance

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

4852
(6.1%)

chromosome 1p35 deletion syndrome

Cryptorchidism

Autosomal dominant inheritance

4852
(6.1%)

optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Progressive sensorineural hearing impairment

Autosomal dominant inheritance

4852
(6.1%)

intellectual disability, autosomal dominant 9

Microcephaly

Autosomal dominant inheritance

An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.

4852
(6.1%)

infantile cerebellar-retinal degeneration

Progressive microcephaly

Autosomal recessive inheritance

Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.

4852
(6.1%)

hereditary spastic paraplegia 55

Strabismus

Autosomal recessive inheritance

4852
(6.1%)

microcephaly and chorioretinopathy 2

Microcephaly

Autosomal recessive inheritance

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.

4852
(6.1%)

distal arthrogryposis type 2B1

Narrow mouth

Autosomal dominant inheritance

4852
(6.1%)

spondylometaphyseal dysplasia, A4 type

Dolichocephaly

Autosomal recessive inheritance

4852
(6.1%)

developmental and epileptic encephalopathy, 4

Impaired horizontal smooth pursuit

Autosomal dominant inheritance

Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.

4852
(6.1%)

Seckel syndrome 5

Cryptorchidism

Autosomal recessive inheritance

Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.

4852
(6.1%)

hypomyelinating leukodystrophy 5

Developmental cataract

Autosomal recessive inheritance

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

4852
(6.1%)

Joubert syndrome 7

Nephronophthisis

Autosomal recessive inheritance Heterogeneous

Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.

4852
(6.1%)

spinocerebellar ataxia type 21

Slow saccadic eye movements

Autosomal dominant inheritance

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

4852
(6.1%)

PHARC syndrome

Sensorineural hearing impairment

Autosomal recessive inheritance

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

4852
(6.1%)

bilateral generalized polymicrogyria

Microcephaly

Autosomal recessive inheritance

Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.

4852
(6.1%)

frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Supranuclear gaze palsy

Autosomal dominant inheritance

Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.

4852
(6.1%)

intellectual disability, X-linked 104

High palate

X-linked inheritance X-linked recessive inheritance

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.

4852
(6.1%)

autosomal recessive spinocerebellar ataxia 2

Nystagmus

Autosomal recessive inheritance

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

4852
(6.1%)

spinocerebellar ataxia 47

High palate

Autosomal dominant inheritance

4852
(6.1%)

encephalopathy, progressive, with amyotrophy and optic atrophy

Optic atrophy

Autosomal recessive inheritance

4852
(6.1%)

ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability

Sensorineural hearing impairment

Autosomal recessive inheritance

4852
(6.1%)

spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness

Sensorineural hearing impairment

Sporadic

4852
(6.1%)

atelosteogenesis type III

Cleft palate

Autosomal dominant inheritance

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

4852
(6.1%)

Leri pleonosteosis

Microcornea

Autosomal dominant inheritance

Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.

4852
(6.1%)

hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

High palate

Autosomal dominant inheritance X-linked dominant inheritance

This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.

4852
(6.1%)

NDE1-related microhydranencephaly

Microcephaly

Autosomal recessive inheritance

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

4852
(6.1%)

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Hydrocephalus

Autosomal dominant inheritance

4852
(6.1%)

chromosome 3q13.31 deletion syndrome

Cryptorchidism

Autosomal dominant inheritance

3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.

4852
(6.1%)

Joubert syndrome 21

Renal cyst

Autosomal recessive inheritance

Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.

4852
(6.1%)

cortical dysplasia-focal epilepsy syndrome

Macrocephaly

Autosomal recessive inheritance

An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.

4852
(6.1%)

autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Microcephaly

Autosomal recessive inheritance

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.

4852
(6.1%)

microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Microcephaly

Autosomal recessive inheritance

4852
(6.1%)

Leri-Weill dyschondrosteosis

High palate

Autosomal dominant inheritance

LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.

4852
(6.1%)

Lowry-Wood syndrome

Microcephaly

Autosomal recessive inheritance

Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.

4852
(6.1%)

Smith-McCort dysplasia 1

Microcephaly

Autosomal recessive inheritance

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.

4852
(6.1%)

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Narrow mouth

Autosomal dominant inheritance

4852
(6.1%)

hereditary spastic paraplegia 26

Urinary urgency

Autosomal recessive inheritance

A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.

4852
(6.1%)

optic atrophy 11

Microcephaly

Autosomal recessive inheritance

Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.

4852
(6.1%)

intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Esotropia

Autosomal dominant inheritance

4852
(6.1%)

rigid spine muscular dystrophy 1

High palate

Autosomal recessive inheritance

An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.

4852
(6.1%)

thanatophoric dysplasia type 1

Hydrocephalus

Autosomal dominant inheritance

Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

4852
(6.1%)

Charcot-Marie-Tooth disease type 3

Nystagmus

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous

4852
(6.1%)

chromosome 3q29 microdeletion syndrome

Thin upper lip vermilion

Autosomal dominant inheritance Sporadic

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

4852
(6.1%)

Lamb-Shaffer syndrome

Open mouth

Autosomal dominant inheritance

4852
(6.1%)

pontocerebellar hypoplasia type 7

Micropenis

Autosomal recessive inheritance Sporadic

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

4852
(6.1%)

hereditary spastic paraplegia 4

Urinary urgency

Autosomal dominant inheritance Genetic anticipation

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

4852
(6.1%)

developmental and epileptic encephalopathy, 64

Thin upper lip vermilion

Autosomal dominant inheritance

4852
(6.1%)

early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Progressive visual loss

Autosomal recessive inheritance

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

4852
(6.1%)

hypomyelinating leukodystrophy 6

Microcephaly

Autosomal dominant inheritance Sporadic

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

4852
(6.1%)

Charcot-Marie-Tooth disease type 1B

Split hand

Autosomal dominant inheritance Heterogeneous

A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.

4852
(6.1%)

Charcot-Marie-Tooth disease type 1A

Hearing impairment

Autosomal dominant inheritance Heterogeneous

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.

4852
(6.1%)

Gerstmann-Straussler-Scheinker syndrome

Psychosis

Autosomal dominant inheritance

A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.

4852
(6.1%)

neuropathy, hereditary motor and sensory, type 6A

Tinnitus

Autosomal dominant inheritance

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.

4852
(6.1%)

intellectual disability, X-linked 49

Long face

X-linked inheritance X-linked recessive inheritance X-linked dominant inheritance

4852
(6.1%)

hereditary spastic paraplegia 52

Wide mouth

Autosomal recessive inheritance

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.

4852
(6.1%)

microcephaly-micromelia syndrome

Narrow mouth

Autosomal recessive inheritance

4852
(6.1%)

Cole-Carpenter syndrome 2

High palate

Autosomal recessive inheritance

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.

4852
(6.1%)

snijders blok-campeau syndrome

Abnormality of the dentition

Autosomal dominant inheritance

4852
(6.1%)

hypomyelinating leukodystrophy 2

Myopia

Autosomal recessive inheritance

Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.

4852
(6.1%)

neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

Narrow palate

Autosomal recessive inheritance

4852
(6.1%)

X-linked intellectual disability-psychosis-macroorchidism syndrome

Macroorchidism

X-linked recessive inheritance

4852
(6.1%)

spastic paraplegia-severe developmental delay-epilepsy syndrome

Microcephaly

Autosomal recessive inheritance

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

4852
(6.1%)

Pfeiffer syndrome

High palate

Autosomal dominant inheritance

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.

4852
(6.1%)

3M syndrome 2

High palate

Autosomal recessive inheritance

Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.

4852
(6.1%)

arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

High palate

Autosomal recessive inheritance

4852
(6.1%)

hereditary spastic paraplegia 35

Urinary urgency

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.

4852
(6.1%)

intellectual disability, X-linked 102

Cleft palate

X-linked recessive inheritance X-linked dominant inheritance

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

4852
(6.1%)

metatropic dysplasia

Narrow chest

Autosomal dominant inheritance

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

4852
(6.1%)

Dyggve-Melchior-Clausen syndrome, X-linked

Brachycephaly

X-linked recessive inheritance

X-linked form of Dyggve-Melchior-Clausen disease.

4852
(6.1%)

Atkin-Flaitz syndrome

Macroorchidism

X-linked recessive inheritance X-linked dominant inheritance

Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.

4852
(6.1%)

Charcot-Marie-Tooth disease axonal type 2C

Urinary urgency

Autosomal dominant inheritance

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

4852
(6.1%)

syndromic X-linked intellectual disability 5

Wide mouth

X-linked inheritance X-linked recessive inheritance

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.

4852
(6.1%)

mitochondrial complex III deficiency nuclear type 2

Hearing impairment

Autosomal recessive inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.

4852
(6.1%)

X-linked intellectual disability-short stature-overweight syndrome

Microcephaly

X-linked recessive inheritance

X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

4852
(6.1%)

Borjeson-Forssman-Lehmann syndrome

Cryptorchidism

X-linked recessive inheritance

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

4852
(6.1%)

multiple epiphyseal dysplasia, Lowry type

Cleft palate

Sporadic

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.

4852
(6.1%)

Charcot-Marie-Tooth disease type 2A2

Hearing impairment

Autosomal dominant inheritance

Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.

4852
(6.1%)

X-linked intellectual disability-cerebellar hypoplasia syndrome

Cryptorchidism

X-linked recessive inheritance

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

4852
(6.1%)

hereditary spastic paraplegia 50

Wide mouth

Autosomal recessive inheritance

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.

4852
(6.1%)

glycosylphosphatidylinositol biosynthesis defect 15

Narrow forehead

Autosomal recessive inheritance

4852
(6.1%)

spondyloepiphyseal dysplasia congenita

Cleft palate

Autosomal dominant inheritance

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

4852
(6.1%)

brachydactyly type C

Brachydactyly

Autosomal dominant inheritance

4852
(6.1%)

scapuloperoneal spinal muscular atrophy, autosomal dominant

Torticollis

Autosomal dominant inheritance Autosomal recessive inheritance