Phenotype #0000247026

Individual ID 00328819
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details birth 40w; height 151cm (-1SD), OFC 48cm (-4SD); no facial features; delyed psychomotor development; ataxia; muscle weakness; seizure; aggressive behavior; speech impairment; moderate intellectual disability (IQ 40–45); pes planus, thin body
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Luciana Musante
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-01 09:14:21 +01:00 (CET)
Date last edited N/A

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