Phenotype #0000074188

Individual ID 00095908
Associated disease SMDCRD
Phenotype details developmental delay moderate (HP:0001263), intellectual disability (HP:0002342), autism (HP:0000717), hypotonia (HP:0001252), sit 9m, walk 3y, 5y-generalised tonic clonic seizures (now seizure free), hand flapping, self-injurious behaviours, aggressive behaviour, inappropriate laughter, wide-based gait, exercise intolerance, strabismus, gastro-oesophageal reflux disease, constipstion, MRI-brain normal, midface retrusion, thin vermillion upper lip
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 11y (11 years)
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 07:46:04 +01:00 (CET)
Date last edited 2017-01-23 08:14:20 +01:00 (CET)

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