Phenotype #0000074200

Individual ID	00095909
Associated disease	NDHSAL
Phenotype details	developmental delay (HP:0001263), intellectual disability mild (HP:0001256, IQ=55), autism (HP:0000717), hypotonia (HP:0001252), sit 12m, walk 3y (with braces), talk 2y (few words), EEG excessive slowing with abnormal burst discharges, self-stimulatory behaviour, no visual problems, MRI-brain normal, no gastrointestinal problems, flat nasal bridge, mild epicanthal folds, telecanthus, thick eyebrows, synophrys, short, upturned nose with bulbous nasal tip, midface hypoplasia, full lower lip, widely spaced teeth, tongue protrusion, thick supraorbital ridge, deep set eyes, mouth is wide and down turned, prominent central incisors, joint laxity in knees, ankles, pain insensitivity
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-01-23 08:38:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD