Phenotype #0000267888

Individual ID 00372575
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 40w, length 53.3 cm/90th, weight 3,200 g/33rd; OFC 26th centile; None; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 18m-sitting; 5y-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; impulse control; involuntary movements; strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; short stature; no scoliosis; no heart defect; no abnormal genitalia
Inheritance Isolated (sporadic)
Age/Examination 5y (5 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 2021-05-10 09:29:40 +02:00 (CEST)
Date last edited N/A

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