Phenotype #0000267885

Individual ID 00372572
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 39w, weight 3,685 g/75th; OFC −2.2 SD; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 20m-sitting; no walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; athetoid and stereotypic movements; ataxia; strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; short stature; scoliosis; hip dislocation; no heart defect; no abnormal genitalia; plagiocephaly, hypotelorism, deep set eyes, high and narrow palate, tapering fingers
Inheritance Isolated (sporadic)
Age/Examination 22y (22 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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