Total 17 clinical symptoms reported for Heterotopia, periventricular, X-linked dominant
| Bone marrow maturation arrest |
Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.
Synonyms:Hematopoietic maturation arrest |
Very frequent |
| Cerebellar hypoplasia |
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Synonyms:Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum |
Very frequent |
| Cerebral hemorrhage |
Hemorrhage into the parenchyma of the brain.
Synonyms:Bleeding in brain; Intracerebral hemorrhage |
Very frequent |
| Clinodactyly |
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Synonyms:Permanent curving of the finger |
Very frequent |
| Recurrent infections |
Increased susceptibility to infections.
Synonyms:Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection |
Very frequent |
| Short finger |
Abnormally short finger associated with developmental hypoplasia.
Synonyms:Hypoplastic digits; Hypoplastic fingers; Hypoplastic/small fingers; Short finger; Stubby finger; Stubby fingers |
Very frequent |
| Syndactyly |
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as 'bony' syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as 'symphalangism'.
Synonyms:Webbed fingers or toes |
Very frequent |
| Thin corpus callosum |
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Synonyms:Small corpus callosum; Thinning of the corpus callosum |
Very frequent |