Phenotype #0000074195

Individual ID 00095912
Associated disease NDHSAL
Phenotype details developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, no seizures, repetitive hand movements, self-injurious behaviours, cortical visual impairment, MRI-brain normal, gastrointestinal requires burping regularly, slightly large ears, upturned nose with bulbous nasal tip
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 00y18m (18 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2017-01-23 08:24:19 +01:00 (CET)
Date last edited N/A

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