Phenotype #0000346996

Individual ID 00458565
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDGFC
Phenotype details see paper; ..., height 109cm (Z-2.9), weight 19kg (Z-1.8), OFC 50cm (Z-2.0); no motor delay; borderline intellectual disability (IQ77); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes
Inheritance Familial, autosomal recessive
Age/Examination 7y (7 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 2024-12-18 21:38:12 +01:00 (CET)
Date last edited N/A

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