Phenotype #0000229850

Individual ID	00302768
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	DEE54
Inheritance	Isolated (sporadic)
Phenotype details	birth 41w, weight 3310g (-0.95); weight 17.7kg (+0.62), height 96cm (-1.75), OFC 48.6cm (-1.65); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; generalized tonic-clonic seizures, onset 12m; no prominent metopic ridge; deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; anteverted nares; no bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities; no short neck; low set ears; normal corpus callosum, Broad Sylvian fissures, enlarged sub-arachnoid spaces, discrete non-specific signal anomalies in the white matter in the periventricular region and the right frontal sub-cortical region; feeding difficulties; no hearing deficit; aortic dilatation; unilateral multicystic kidney; bilateral single palmar creases
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-01 10:33:11 +02:00 (CEST)
Date last edited	2023-08-04 18:30:18 +02:00 (CEST)