Phenotype #0000210508

Individual ID 00275909
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite SNIBCPS
Phenotype details global developmental delay; walk-4y; fine motor delay; first words-7y; speech only a few words; received speech/language therapy; severe language disorder (expressive and receptive); Severe intellectual disability; no autism/autistic features; timid; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; normal teeth; high palate; neonatal respiratory distress, feeding problems; vision refractive error; ear tubes; normal heart; normal kidneys; no hernias; pectus chest deformity, joint hypermobility,; hypertrichosis
Inheritance Isolated (sporadic)
Age/Examination -
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 2020-01-20 21:55:37 +01:00 (CET)
Date last edited N/A

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