Phenotype #0000310023

Individual ID	00418728
Associated disease	MKS
Diagnosis/Initial	-
Diagnosis/Definite	Meckel-Gruber syndrome
Phenotype details	gestation weeks: 31+6; campomelic variant: -; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: -/-; epididymal cystic dysplasia: +; ocular coloboma (left/right): +/+; dysmorphic facies with prominent/sloping forehead: -/+; other: polysplenia, hypoplastic left heart
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-04 23:24:52 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD