Phenotype #0000352846

Individual ID	00467634
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	PERCHING
Phenotype details	see paper; ..., fetal akinesia, intra-uterine growth retardation, 30wg-developmental dela; neuromotor developmental delay, inability to walk, inability to talk, spasticity, microcephaly, severe learning disability, fetal akinesia, perinatal asphyxia, y shaped syndactyly, hypospadias, scoliosis, intestinal obstruction, abnormal eeg; MRI lateral ventricles dilated, plagiocephaly; no cardiac anomalies
Inheritance	Familial, autosomal recessive
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-24 22:46:25 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD