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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