Phenotype #0000355467

Individual ID	00470318
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., birth 39w+6d; feeding difficulties; muscular hypotonia; develomental delay, intellectual disability; no behavioral anomalies; wider ventricles due to atrophy, periventricular glial changes, enlarged subarachnoid space due to atrophy; strabismus; no urogenital anomalies; triangular elongated face, tall bulging forehead, deep-set eyes, long pear-shaped nose, long smooth philtrum, thin upper lip, thick folded lower lip, long tongue, arched palate, prominent chin with central dimple.; no congenital heart disease; short stature, hypotrophy, barrel-shaped chest, proportional limbs, limited supination due to radioulnar synostosis, long hands, long, thin fingers, simple palmar creases, transverse palmar crease in the right palm, long slats, partial syndactyly ii, iii, hypoplastic 3rd toe, 2nd toe overlaps the 3rd toe. gastro-esophageal reflux, moderate combined hearing impairment, radioulnar synostosis, coxa valga, hip dysplasia, spina bifida s1
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-30 13:31:50 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD