Phenotype #0000230380

Individual ID 00303304
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details height 125 cm (SD −1.24 (8.5y)), weight 21kg (SD 1.19), OFC 49.2 cm (SD −0.92); mild-moderate developmental delay/intellectual disability (DQ 56); 29m-walk; 3.7y-first words, speech simple sentences; 10-12m-regression; no seizures; MRI pontocerebellar hypoplasia, hypoplasia corpus callosum; muscular hypotonia; aggression; ventricle septum defect (self-resolved), persistent foramen ovale; multicystic kidneys; inguinal hernia; no gastro-intestinal anomalies; antevertion femur
Inheritance Isolated (sporadic)
Age/Examination 4y6m (4 years, 6 months)
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 2020-06-09 19:07:12 +02:00 (CEST)
Date last edited 2020-08-08 22:55:54 +02:00 (CEST)

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