Phenotype #0000325764

Individual ID	00435579
Associated disease	NDD
Diagnosis/Initial	epilepsy, intellectual disability
Diagnosis/Definite	DEE54
Phenotype details	see paper; ..., birth 38w, weight 3400g (+0.3), length 50cm (+0.13), OFC normal; weight 69kg (-0.55), height 175cm (-1.24), OFC 61cm (+1.81); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; onset 10m, seizures, temporal epilepsy evolving into West syndrome, then into severe therapy resistant Lennox-Gastaut-like epilepsy with multiple daily absences, temporal tonic and infrequent atonic seizures sometimes fever-related.; no prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities, thick incisors, accessory incisor in palatum composed of several elements, diastemas between teeth; no short neck; low set ears, slightly overfolded helices; normal corpus callosum, wide ventricles, retarded frontal myelinisation, glandula pinealis cyst; no feeding difficulties; no hearing deficit; no cardiac abnormalities; regression in motor and speech development after onset of epilepsy, secondary osteoporosis, obstipation, rotatory nystagmus, cortical visual impairment
Inheritance	Isolated (sporadic)
Age/Examination	23y (23 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