Phenotype #0000351448

Individual ID	00466063
Associated disease	NDD
Diagnosis/Initial	fetal growth restriction
Diagnosis/Definite	NEDMIGS
Phenotype details	see paper; ..., 43d-deceased cardiorespiratory arrest related to critical stenosis pulmonary veins; decreased fetal movements, fetal growth restriction starting third trimester; 32wg-microcephaly, right-sided kidney agenesis; birth 36w+5 weight 2114 g (5th percentile), length 44 cm (5th percentile), OFC 29.5 cm (1st percentile); coarse dysmorphic features (high/prominent forehead, bilateral periorbital fullness, wide nasal bridge, large nose, thick lips), hypertelorism, bilateral epicanthal folds, anteverted nares, long philtrum, high-arched palate, low-set ears with large lobules, rocker-bottom feet; axial hypotonia, increased distal muscle tone with normal deep tendon reflexes, depressed neonatal reflexes, poor spontaneous motility; retinal dystrophy, cerebellar hypoplasia, congenital heart defect, right kidney hypoplasia
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-07-23 10:05:54 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD