Phenotype #0000267882

Individual ID 00372569
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 42w, weight 3,040 g/7th; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 1y6m-sitting; 1y6m-walking; no toilet trained; no swallowing difficulties; no autism spectrum disorder; no behavioral problems; no abnormal movements; no ataxia; no strabismus; no seizures; corpus callosum agenesis; hippocampal dysplasia; no cerebellar hypoplasia; no hydrocephaly; no short stature; no scoliosis; no heart defect; no abnormal genitalia; no dysmorphic features
Inheritance Isolated (sporadic)
Age/Examination 2y6m (2 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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