Phenotype #0000325762

Individual ID	00435577
Associated disease	NDD
Diagnosis/Initial	epilepsy, intellectual disability
Diagnosis/Definite	DEE54
Phenotype details	see paper; ..., birth 40w, weight 2640g (-1.97), length 47cm (-2.13); weight 63.6kg (+0.84), height 146.5cm (-2.44), OFC 54.2cm (-0.19); severe intellectual disability; no microcephaly; short stature; hypotonia; speech impairment, 1-2 word utterances; generalized tonic-clonic seizures, atonic insults, absences, Lennox-Gastaut-like epilepsy, onset 62m; no prominent metopic ridge; deep set eyes; hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; no eversion of upper lip; no micro/retrognathia; teeth abnormalities; short neck; low set ears; normal corpus callosum, subependymal gray matter heterotopia, Chiari I malformation; no feeding difficulties; no hearing deficit; autism, aggressive behavior, odontogenic keratocyst
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 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