Phenotype #0000267884

Individual ID 00372571
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 40w, weight 3,800 g/75th–90th; OFC 10th centile; delayed development; hypotonia; severe intellectual disability; no degree; no absent speech; no sitting; no walking; no toilet trained; no swallowing difficulties; no autism spectrum disorder; sensory processing disorder; no abnormal movements; ataxia; no strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; no short stature; scoliosis; hip dysplasia requiring surgery; no heart defect; deep set eyes, hypotelorism, high and narrow palate
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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