4852
(6.1%)

MASA syndrome

Hydrocephalus

X-linked recessive inheritance

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

4852
(6.1%)

optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive

Progressive sensorineural hearing impairment

Autosomal recessive inheritance X-linked recessive inheritance

4852
(6.1%)

3M syndrome 3

Dolichocephaly

Autosomal recessive inheritance

Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.

4852
(6.1%)

parkinsonian-pyramidal syndrome

Hypomimic face

Autosomal recessive inheritance

A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.

4852
(6.1%)

periventricular nodular heterotopia 7

Cryptorchidism

Autosomal dominant inheritance

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.

4852
(6.1%)

intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature

Thin upper lip vermilion

Sporadic

4852
(6.1%)

RHYNS syndrome

Nephronophthisis

Autosomal recessive inheritance

RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.

4852
(6.1%)

hereditary spastic paraplegia 6

Urinary urgency

Autosomal dominant inheritance

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

4852
(6.1%)

corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

High palate

X-linked recessive inheritance

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

4852
(6.1%)

spastic paraplegia, ataxia, and intellectual disability

Urinary urgency

Autosomal dominant inheritance

4852
(6.1%)

autosomal recessive spinocerebellar ataxia 15

Nystagmus

Autosomal recessive inheritance

Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.

4852
(6.1%)

spinocerebellar ataxia type 12

Facial myokymia

Autosomal dominant inheritance

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

4852
(6.1%)

lissencephaly 6 with microcephaly

Microcephaly

Autosomal recessive inheritance

Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.

4852
(6.1%)

early-onset parkinsonism-intellectual disability syndrome

Macrocephaly

X-linked inheritance X-linked recessive inheritance

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

4852
(6.1%)

microphthalmia, isolated, with coloboma 9

Microcornea

Autosomal recessive inheritance

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.

4852
(6.1%)

Joubert syndrome 30

Abnormality of eye movement

Autosomal recessive inheritance

4852
(6.1%)

neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Progressive microcephaly

Autosomal recessive inheritance

4852
(6.1%)

spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Hypometric saccades

Autosomal recessive inheritance

4852
(6.1%)

combined oxidative phosphorylation deficiency 35

Microcephaly

Autosomal recessive inheritance

4852
(6.1%)

neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Hearing impairment

Autosomal recessive inheritance

Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.

4852
(6.1%)

neuronal ceroid lipofuscinosis 13

Emotional lability

Autosomal recessive inheritance

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.

4852
(6.1%)

brachydactyly type A6

Abnormality of the vertebral column

Autosomal dominant inheritance

Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.

4852
(6.1%)

acromesomelic dysplasia, Demirhan type

Hypoplasia of the uterus

Autosomal recessive inheritance

4852
(6.1%)

ring chromosome 14

High palate

Sporadic

Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.

4852
(6.1%)

Smith-McCort dysplasia 2

Short neck

Autosomal recessive inheritance

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.

4852
(6.1%)

Charcot-Marie-Tooth disease type 2A1

Hyporeflexia

Autosomal dominant inheritance Heterogeneous

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.

4852
(6.1%)

Schilbach-Rott syndrome

Hypospadias

Autosomal dominant inheritance

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.

4852
(6.1%)

spondyloepiphyseal dysplasia tarda, X-linked

Short neck

X-linked recessive inheritance

X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.

4852
(6.1%)

Joubert syndrome 5

Nephronophthisis

Autosomal recessive inheritance

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.

4852
(6.1%)

microcephaly, short stature, and limb abnormalities

Microcephaly

Autosomal recessive inheritance

4852
(6.1%)

progressive scapulohumeroperoneal distal myopathy

Hyporeflexia

Autosomal dominant inheritance

4852
(6.1%)

hereditary spastic paraplegia 2

Nystagmus

X-linked recessive inheritance

Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.

4852
(6.1%)

Perrault syndrome 4

Hypoplasia of the uterus

Autosomal recessive inheritance

Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.

4852
(6.1%)

syndromic X-linked intellectual disability Hedera type

Hypomimic face

X-linked recessive inheritance

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

4852
(6.1%)

short-rib thoracic dysplasia 18 with polydactyly

Polycystic kidney dysplasia

Autosomal recessive inheritance

4852
(6.1%)

intellectual disability, autosomal dominant 58

Wide mouth

Autosomal dominant inheritance

4852
(6.1%)

diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Microcephaly

Autosomal recessive inheritance

4852
(6.1%)

ataxia-hypogonadism-choroidal dystrophy syndrome

Hypogonadotropic hypogonadism

Autosomal recessive inheritance

Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.

4852
(6.1%)

macrocephaly/megalencephaly syndrome, autosomal recessive

Macrocephaly

Autosomal recessive inheritance

4852
(6.1%)

developmental and epileptic encephalopathy, 69

Macrocephaly

Autosomal dominant inheritance

4852
(6.1%)

microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephaly

Autosomal recessive inheritance

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

4852
(6.1%)

craniosynostosis 2

Cleft soft palate

Autosomal dominant inheritance

A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

4852
(6.1%)

peripheral neuropathy, autosomal recessive, with or without impaired intellectual development

Strabismus

Autosomal recessive inheritance

4852
(6.1%)

complex cortical dysplasia with other brain malformations 7

Microcephaly

Autosomal dominant inheritance

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.

4852
(6.1%)

developmental and epileptic encephalopathy, 70

Cryptorchidism

Autosomal dominant inheritance

4852
(6.1%)

intellectual disability, autosomal dominant 13

Microcephaly

Autosomal dominant inheritance

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.

4852
(6.1%)

cystic leukoencephalopathy without megalencephaly

Microcephaly

Autosomal recessive inheritance

Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

4852
(6.1%)

hereditary spastic paraplegia 18

High palate

Autosomal recessive inheritance

A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

4852
(6.1%)

autosomal recessive spastic paraplegia type 78

Supranuclear gaze palsy

Autosomal recessive inheritance

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.

4852
(6.1%)

hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

Depressivity

Autosomal dominant inheritance

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

4852
(6.1%)

spondylometaphyseal dysplasia, Kozlowski type

Abnormality of the face

Autosomal dominant inheritance

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

4852
(6.1%)

Nance-Horan syndrome

Narrow face

X-linked dominant inheritance

Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

4852
(6.1%)

schneckenbecken dysplasia

Cleft palate

Autosomal recessive inheritance

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

4852
(6.1%)

spondyloepimetaphyseal dysplasia, matrilin-3 type

Posterior rib cupping

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

4852
(6.1%)

auriculocondylar syndrome 2

Narrow mouth

Autosomal dominant inheritance Autosomal recessive inheritance

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.

4852
(6.1%)

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Sensorineural hearing impairment

Autosomal dominant inheritance

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

4852
(6.1%)

autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Spasticity

Autosomal dominant inheritance

4852
(6.1%)

spondyloepiphyseal dysplasia, Reardon type

Hemiparesis

Autosomal dominant inheritance

Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.

4852
(6.1%)

syndromic X-linked intellectual disability 14

High palate

X-linked recessive inheritance

Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.

4852
(6.1%)

spinocerebellar ataxia type 5

Facial myokymia

Autosomal dominant inheritance

Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.

4852
(6.1%)

Joubert syndrome 28

Retinopathy

Autosomal recessive inheritance

Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.

4852
(6.1%)

Charcot-Marie-Tooth disease axonal type 2Z

Urinary incontinence

Autosomal dominant inheritance

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.

4852
(6.1%)

microcephaly 15, primary, autosomal recessive

Progressive microcephaly

Autosomal recessive inheritance

4852
(6.1%)

neurodegeneration with brain iron accumulation 5

Abnormality of eye movement

X-linked dominant inheritance

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

4852
(6.1%)

autosomal recessive spastic paraplegia type 76

Nystagmus

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.

4852
(6.1%)

intellectual disability, autosomal dominant 49

Wide mouth

Autosomal dominant inheritance X-linked inheritance

4852
(6.1%)

hereditary spastic paraplegia 75

Astigmatism

Autosomal recessive inheritance

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

4852
(6.1%)

neurodegeneration with brain iron accumulation 6

Depressivity

Autosomal recessive inheritance

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

4852
(6.1%)

epileptic encephalopathy, infantile or early childhood, 3

Microcephaly

Autosomal dominant inheritance

4852
(6.1%)

intellectual disability, autosomal dominant 22

Thin upper lip vermilion

Autosomal dominant inheritance

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.

4852
(6.1%)

hereditary spastic paraplegia 5A

Urinary incontinence

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.

4852
(6.1%)

intellectual disability, autosomal recessive 42

Wide mouth

Autosomal recessive inheritance

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.

4852
(6.1%)

autosomal recessive spinocerebellar ataxia 18

Optic disc pallor

Autosomal recessive inheritance

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

4852
(6.1%)

hypermanganesemia with dystonia 2

Intellectual disability

Autosomal recessive inheritance

Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.

4852
(6.1%)

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Urinary incontinence

Autosomal recessive inheritance

4852
(6.1%)

developmental and epileptic encephalopathy, 29

Microcephaly

Autosomal recessive inheritance

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.

4852
(6.1%)

early-onset Lafora body disease

Urinary incontinence

Autosomal recessive inheritance

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

4852
(6.1%)

acromesomelic dysplasia, Grebe type

Postaxial hand polydactyly

Autosomal recessive inheritance

Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

4852
(6.1%)

spinocerebellar ataxia type 27

Strabismus

Autosomal dominant inheritance Heterogeneous

Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

4852
(6.1%)

multiple epiphyseal dysplasia type 1

Joint stiffness

Autosomal dominant inheritance Heterogeneous

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

4852
(6.1%)

Charcot-Marie-Tooth disease type 4A

Peripheral axonal degeneration

Autosomal recessive inheritance Heterogeneous

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.

4852
(6.1%)

orofaciodigital syndrome IV

Cleft palate

Autosomal recessive inheritance

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

4852
(6.1%)

craniometaphyseal dysplasia, autosomal recessive

Broad alveolar ridges

Autosomal recessive inheritance

Autosomal recessive form of craniometaphyseal dysplasia.

4852
(6.1%)

bilateral frontoparietal polymicrogyria

Esotropia

Autosomal recessive inheritance

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

4852
(6.1%)

Ververi-Brady syndrome

Wide mouth

Autosomal dominant inheritance

4852
(6.1%)

intellectual disability, autosomal dominant 20

Hypertelorism

Autosomal dominant inheritance Sporadic

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.

4852
(6.1%)

Stickler syndrome type 2

Cleft palate

Autosomal dominant inheritance

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).

4852
(6.1%)

pontocerebellar hypoplasia type 9

Macroglossia

Autosomal recessive inheritance

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.

4852
(6.1%)

holoprosencephaly 3

Hydronephrosis

Autosomal dominant inheritance

Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.

4852
(6.1%)

developmental delay with autism spectrum disorder and gait instability

Narrow palate

Autosomal recessive inheritance

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.

4852
(6.1%)

Cree intellectual disability syndrome

Cryptorchidism

Autosomal recessive inheritance

4852
(6.1%)

lethal congenital contracture syndrome 9

Thin upper lip vermilion

Autosomal recessive inheritance

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.

4852
(6.1%)

microcephaly 17, primary, autosomal recessive

Renal agenesis

Autosomal recessive inheritance

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.

4852
(6.1%)

intellectual disability, X-linked 30

Open mouth

X-linked recessive inheritance

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.

4852
(6.1%)

hydrocephalus, nonsyndromic, autosomal recessive 2

Macrocephaly

Autosomal recessive inheritance

Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.

4852
(6.1%)

Perrault syndrome 1

Gonadal dysgenesis

Autosomal recessive inheritance

Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.

4852
(6.1%)

microcephaly, growth deficiency, seizures, and brain malformations

Microcephaly

Autosomal recessive inheritance

4852
(6.1%)

inherited Creutzfeldt-Jakob disease

Visual impairment

Autosomal dominant inheritance

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

4852
(6.1%)

cobblestone lissencephaly without muscular or ocular involvement

Hydrocephalus

Autosomal recessive inheritance

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

4852
(6.1%)

dystonia 28, childhood-onset

Microcephaly

Autosomal dominant inheritance

Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.