Phenotype #0000331109

Individual ID 00441684
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y8m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; no ataxia; clinodactyly, short limbs; tone normal; power reduced; sensation normal; normal gait; reflexes normal;
Inheritance Familial, autosomal recessive
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-11-09 12:18:41 +01:00 (CET)
Date last edited N/A

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