Phenotype #0000267887

Individual ID 00372574
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 39w, length 49 cm/42nd, weight 2,600 g/6th; OFC −3.7 SD; weak fetal movements; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 12m-sitting; 5y6m-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; no abnormal movements; no ataxia; strabismus; focal seizures; corpus callosum agenesis; no hippocampal dysplasia; no cerebellar hypoplasia; no hydrocephaly; Dandy-Walker malformation, encephalocele with intracranial hypertension; short stature; scoliosis; declination of the body to the left side; no heart defect; no abnormal genitalia
Inheritance Isolated (sporadic)
Age/Examination 17y6m (17 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 2021-05-10 09:29:40 +02:00 (CEST)
Date last edited N/A

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