Phenotype #0000296511

Individual ID	00403831
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDMIGS
Phenotype details	uchal cord, altered fetal heart rate, bradycardia during fetal delivery (arround 10min), birth 40w, length 48cm, weight 2840g; OFC35 cm; weight 40.7 kg (< 3rd percentile), height 149 cm (< 3rd percentile), OFC 51 cm (< 3rd percentile); delayed motor development; smile to comunicate; never walked; no speech, smile and babble to communicate ; no regression; severe intellectual disability; IQ not assessable; minimally conscious state; axial hypotonia (congenital); 12y-spastic quadriplegia; 1.5m-epilepsy, infantile spasms, tonic seizures (6-10/day, trigger shower, emotive state, discomfort state; EEG generalized spike and slow waves; normal sleep; MRI brain 16y-cerebellar and frontal global atrophy and corpus callosum splenium hypotrophy, CT scan 22y-no obvious change; normal abdominal ultrasound; petechia on legs with 1 hypopigmented spot ; no dysmorphism; osteopenia, severe scoliosis with arthrodesis ; inferior and superior limb and elbow retractions ; Megaloblastic anemia persistent under folate supplementation , Wolf Parkinson white syndrome, COPD, drooling patient under scopoderm, fed by gastrostomia (nothing through per os); Supraventricular tachycardia under cordarone treatment, Disease progression stable
Inheritance	Familial, autosomal recessive
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	2022-02-24 15:46:26 +01:00 (CET)
Date last edited	2025-07-23 09:52:45 +02:00 (CEST)