Phenotype #0000350758

Individual ID	00465222
Associated disease	?
Diagnosis/Initial	fetal growth retardation, severe microcephaly, ponto-cerebellar hypoplasia
Diagnosis/Definite	-
Phenotype details	see paper; ..., 22wg-fetal growth retardation, severe microcephaly (−6ZS), ponto-cerebellar hypoplasia; birth 39wg, weight lower normal range (1860 g), 30 min-deceased; hypertrichosis, facial dysmorphism (low-set ears, hypertelorism, macrostomia, retromicrognathia; multiple joint contractures, restricted limb movements, lower limbs remained permanently in hyperextension; no fetal autopsy
Inheritance	Familial, autosomal recessive
Age/Examination	00y00m01d (1 day)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-04-17 19:36:12 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD