3308
(4.0%)

Autosomal recessive spastic paraplegia type 69

Hearing impairment

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

3308
(4.0%)

Unverricht-Lundborg disease

Dementia

Autosomal recessive inheritance

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

3308
(4.0%)

Gemignani syndrome

Abnormal testis morphology

Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.

3308
(4.0%)

Cataract-ataxia-deafness syndrome

Sensorineural hearing impairment

Autosomal recessive inheritance

Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.

3308
(4.0%)

Hyperinsulinism due to glucokinase deficiency

Hyperinsulinemic hypoglycemia

Autosomal dominant inheritance Heterogeneous

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

3308
(4.0%)

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Abnormality of ocular smooth pursuit

Autosomal recessive inheritance

A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.

3308
(4.0%)

Pseudohypoaldosteronism type 1

Renal salt wasting

Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.

3308
(4.0%)

Pellucid marginal degeneration

Astigmatism

3308
(4.0%)

Pyruvate carboxylase deficiency

Seizure

Autosomal recessive inheritance

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.

3308
(4.0%)

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive visual loss

Autosomal recessive inheritance

Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.

3308
(4.0%)

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

Diplopia

Autosomal dominant inheritance

3308
(4.0%)

Familial partial lipodystrophy, Köbberling type

Polycystic ovaries

Autosomal dominant inheritance

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

3308
(4.0%)

SLC35A1-CDG

Thrombocytopenia

Autosomal recessive inheritance

SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

3308
(4.0%)

Carney-Stratakis syndrome

Tinnitus

Autosomal dominant inheritance

Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.

3308
(4.0%)

Oculogastrointestinal muscular dystrophy

Ptosis

Autosomal recessive inheritance

Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.

3308
(4.0%)

Acute macular neuroretinopathy

Retinopathy

3308
(4.0%)

Alpha-thalassemia-myelodysplastic syndrome

Bruising susceptibility

An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).

3308
(4.0%)

Dehydrated hereditary stomatocytosis

Diabetes mellitus

Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.

3308
(4.0%)

Chronic neutrophilic leukemia

Hepatosplenomegaly

3308
(4.0%)

Balint syndrome

Blindness

Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.

3308
(4.0%)

3-methylglutaconic aciduria type 3

Visual impairment

Autosomal recessive inheritance

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3308
(4.0%)

Spastic paraparesis-deafness syndrome

Hypogonadism

X-linked inheritance

Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.

3308
(4.0%)

Granulomatous slack skin

Nephrocalcinosis

Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.

3308
(4.0%)

Drug-induced autoimmune hemolytic anemia

Pallor

Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.

3308
(4.0%)

Radiation proctitis

Diarrhea

Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.

3308
(4.0%)

Distomatosis

Encephalopathy

A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.

3308
(4.0%)

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

Eczema

Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.

3308
(4.0%)

Familial melanoma

Retinopathy

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

3308
(4.0%)

Chordoid glioma

Hydrocephalus

Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.

3308
(4.0%)

CD4+/CD56+ hematodermic neoplasm

Aggressive behavior

3308
(4.0%)

Glycogen storage disease due to glycogen branching enzyme deficiency

Hypotonia

Autosomal recessive inheritance

Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).

3308
(4.0%)

COASY protein-associated neurodegeneration

Obsessive-compulsive behavior

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.

3308
(4.0%)

Spinocerebellar ataxia type 40

Vertical supranuclear gaze palsy

Autosomal dominant inheritance

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

3308
(4.0%)

46,XX ovotesticular disorder of sex development

Abnormal morphology of female internal genitalia

46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.

3308
(4.0%)

Familial multinodular goiter

Hyperthyroidism

Autosomal dominant inheritance

3308
(4.0%)

NK-cell enteropathy

Edema

Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).

3308
(4.0%)

Glycogen storage disease due to hepatic glycogen synthase deficiency

Irritability

Autosomal recessive inheritance

A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

3308
(4.0%)

Oculocutaneous albinism type 4

Strabismus

Autosomal recessive inheritance

Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.

3308
(4.0%)

Olivopontocerebellar atrophy-deafness syndrome

Hearing impairment

Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.

3308
(4.0%)

Tricuspid valve prolapse

Horseshoe kidney

A rare, congenital, non-syndromic heart malformation characterized by bulking of tricuspid valve into the right atrium during systole. It can be isolated, but is more often associated with mitral valve prolapse or with other cardiac and lung diseases. Clinical presentation depends on severity and associated findings and there is a high incidence of cardiac arrhythmias and possible bacterial endocarditis.