Phenotype #0000321886

Individual ID	00431286
Associated disease	NPHS
Phenotype details	2m-end stage renal disease; 11m-died; biopsy 1y-focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism; congenital nephrotic syndrome
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS4
Age/Examination	11m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-06 20:38:44 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD