Phenotype #0000346265

Individual ID 00457816
Associated disease NDD
Diagnosis/Initial intellectual disability syndrome
Diagnosis/Definite GADEVS
Phenotype details see paper; ..., 29m-walk; delayed speech; intellectual disability; no hypotonia; Anxiety, self-harm; normal movement; dysmetria; no cardiac abnormalities; no urologic abnormalities; campto-dactyly, hyperlaxity, scoliosis, long fingers; feeding disorders, constipation; no hair abnormalities; no endocrine abnormalities; no immune abnormalities; hyperopia superficial punctuated keratitis, nystagmus; no deafness
Inheritance Isolated (sporadic)
Age/Examination 18y2m (18 years, 2 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 2024-11-19 20:52:45 +01:00 (CET)
Date last edited N/A

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