Phenotype #0000325761

Individual ID	00435576
Associated disease	NDD
Diagnosis/Initial	epilepsy, intellectual disability
Diagnosis/Definite	DEE54
Phenotype details	see paper; ..., birth 40w, weight 2780g (-1.64), length 48cm (-1.68); weight 64.7kg (+0.57), height 151cm (-2.13), OFC 52cm (-1.8); severe intellectual disability; microcephaly; short stature; hypotonia; speech impairment, few words; no seizures, fever-related seizures with normal EEG at younger age; prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia, prominent jaw; teeth abnormalities, irregular, small palate; short neck, webbing; no ear abnormalities; feeding difficulties; no hearing deficit; pentalogy of Fallot; no renal abnormalities; short hands and feet, broad thumbs
Inheritance	Isolated (sporadic)
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-04 19:02:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD