Phenotype #0000161610

Individual ID 00213053
Associated disease MCAHS1;GPIBD3
Phenotype details Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, cerebellar atrophy, increased cerebrospinal fluid spaces, visual impairment (pathological VEP), PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Microcephaly (OFC −4SD), round face, low anterior hairline, broad nasal bridge, high-arched palate, small chin, slender feet and hirsutism. Scoliosis. Dry skin, peeling on feet.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2019-01-11 00:42:02 +01:00 (CET)
Date last edited N/A

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