Global Variome shared LOVD

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Phenotype #0000105063 Individual ID 00132279 Associated disease MCPH5 Phenotype details OFC (SD-6.3); <18m-no walk; 7y-epilepsy; MRI brain 45y-gyral simplification; mild ventricular enlargement; mega cisterna magna; hypersignal of the temporal poles in T2-weighted images; thin brainstem; major vermis and cerebellar atrophy; ceroid lipofuscinosis with identified CLN3 mutations (retinitis pigmentosa) Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nathalie Pouvreau Database submission license No license selected Created by Nathalie Pouvreau Date created 2017-10-25 09:00:44 +02:00 (CEST) Date last edited 2023-03-07 18:02:47 +01:00 (CET)

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