Global Variome shared LOVD

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Phenotype #0000015246 Individual ID 00016844 Associated disease MCPH1 Phenotype details Seizure Onset One hour after birth, Profound delays, cortical visual impairment, normal hearing, chronic constipation, tracheomalacia, possible tapetoretinal degeneration as seen in Leber's congential amaurosis, no meaningful visual response in either eye, nutrition by Gtube. Mixed hypotonia and hypertonia. Sloping forehead, bitemporal narrowing, hypotelorism, bilateral epicanthal folds, broad flat nasal bridge, high arched palate. At age 5 months skin exam with slightly raised red rash across his chest and abdomen. Microcephaly -4.8SD at 1.5 months; -10.4SD at 21months Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-05-31 21:27:47 +02:00 (CEST) Date last edited 2016-06-18 21:50:01 +02:00 (CEST)

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