3308
(4.0%)

Perioral myoclonia with absences

Intellectual disability

A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.

3308
(4.0%)

Incessant infant ventricular tachycardia

Prenatal movement abnormality

Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.

3308
(4.0%)

Spastic ataxia-corneal dystrophy syndrome

Developmental cataract

Autosomal recessive inheritance

Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.

3308
(4.0%)

Epidermolytic palmoplantar keratoderma

Hyperkeratosis

Autosomal dominant inheritance

3308
(4.0%)

Episodic ataxia type 4

Abnormality of ocular smooth pursuit

Autosomal dominant inheritance

Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.

3308
(4.0%)

Familial Alzheimer-like prion disease

Behavioral abnormality

Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.

3308
(4.0%)

Polycystic ovaries-urethral sphincter dysfunction syndrome

Urinary retention

Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.

3308
(4.0%)

Congenital bile acid synthesis defect type 3

Jaundice

Autosomal recessive inheritance

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.

3308
(4.0%)

IRVAN syndrome

Glaucoma

A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.

3308
(4.0%)

Cutaneous collagenous vasculopathy

Petechiae

Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.

3308
(4.0%)

EAST syndrome

Abnormal renal tubule morphology

Autosomal recessive inheritance

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

3308
(4.0%)

Solitary rectal ulcer syndrome

Iron deficiency anemia

Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.

3308
(4.0%)

Continuous spikes and waves during sleep

Dementia

Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.

3308
(4.0%)

Distal trisomy 14q

Hearing impairment

Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.

3308
(4.0%)

Schwannomatosis

Hearing impairment

Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.

3308
(4.0%)

Double outlet left ventricle

Hypertension

Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.

3308
(4.0%)

Indomethacin embryofetopathy

Multicystic kidney dysplasia

Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.

3308
(4.0%)

Azygos continuation of the inferior vena cava

Cyanosis

3308
(4.0%)

Primary orthostatic tremor

Gait disturbance

Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.

3308
(4.0%)

Dementia pugilistica

Dementia

3308
(4.0%)

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Strabismus

Autosomal recessive inheritance

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

3308
(4.0%)

Hepatoportal sclerosis

Cirrhosis

A rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.

3308
(4.0%)

Early-onset Lafora body disease

Behavioral abnormality

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.

3308
(4.0%)

Retinal arterial tortuosity

Renal cyst

Autosomal dominant inheritance

3308
(4.0%)

X-linked immunoneurologic disorder

Functional abnormality of the bladder

X-linked dominant inheritance

X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.

3308
(4.0%)

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

Optic atrophy

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.

3308
(4.0%)

Exercise-induced malignant hyperthermia

Stroke

3308
(4.0%)

Purine nucleoside phosphorylase deficiency

Ataxia

Autosomal recessive inheritance

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

3308
(4.0%)

Hereditary methemoglobinemia

Cyanosis

A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).

3308
(4.0%)

Hemoglobin E-beta-thalassemia syndrome

Visual loss

Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).

3308
(4.0%)

Transient myeloproliferative syndrome

Hypothyroidism

3308
(4.0%)

Spermatocytic seminoma

Aggressive behavior

Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.

3308
(4.0%)

Small cell carcinoma of the ovary

Ascites

Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.

3308
(4.0%)

Autosomal dominant limb-girdle muscular dystrophy type 1D

Dysarthria

Autosomal dominant inheritance

A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

3308
(4.0%)

AKT2-related familial partial lipodystrophy

Polycystic ovaries

3308
(4.0%)

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Progressive sensorineural hearing impairment

Autosomal recessive inheritance

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

3308
(4.0%)

Dyschromatosis universalis hereditaria

Hearing impairment

3308
(4.0%)

GRACILE syndrome

Hearing impairment

Autosomal recessive inheritance

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).

3308
(4.0%)

Dowling-Degos disease

Acanthosis nigricans

A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.

3308
(4.0%)

Autosomal recessive spastic paraplegia type 71

Intellectual disability, mild

Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.