Phenotype #0000231373

Individual ID	00305524
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth at term, weight 3530 (normal); height 133.6 (normal) growth hormone treatment, weight 25 (normal), OFC 53.4 (normal); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; epilepsy, mildly abnormal EEG; hypotonia; no spasticity; ataxia; Repetitive behavior, self mutilation, sensory processing problems, episodes of rocking/head banging; Severe: can go without sleep for days, sleeps 3no sleep disturbances5 hours in a night; facial abnormalities; Still's murmur, 1st degree AV block, enlarged coronary sinus suggestive of persistent LSVC (hemodynamically insignificant); Nocturnal incontinence, overactive bladder; Constipation; no pulmomal abnormalities; Raspberry and seasonal allergy, frequent fevers and vomiting; Growth hormone therapy; Bowing of legs, hyperextensible legs, general hypermobility, long neck, removal of benign cyst from neck, able to dislocate jaw, bruises very easily; no hearing abnormalities; Esotropia, hypermetropia of both eyes; Hirsutism, delayed dentition, all toenails mildly dysplastic, hypoplasia of 5th toenail bilaterally; Tapered fingers, pes planus bilaterally; Regression of speech and motor milestones; MRI-brain no holoprosencephaly, L frontal lobe grey matter heterotopia
Inheritance	Unknown
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-28 10:52:31 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

ABCA1 (ATP-binding cassette, sub-family A (ABC1), m...)

Phenotype #0000231373