Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000307192 Individual ID 00415398 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details ,; height 162cm (-1.89), OFC 56,5 (-0.35); mild intellectual disability (IQ: 52); 18m-walk; special school, difficulties to read and write; no autistic features; happy, not aggressive; no sleep disturbances; no seizures; mild hypotonia; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; no gastrointestinal abnormalities; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; triangular face, early temporal baldness, arched eyebrows, hypotelorism, retrognathia; Nasal voice Inheritance Unknown Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-13 16:30:49 +02:00 (CEST) Date last edited N/A

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