Phenotype #0000288784

Individual ID	00395586
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	Mixed
Phenotype details	early onset rod-cone dystrophy, myopia, delayed speech and language development, generalized myoclonic seizures, global developmental delay, intellectual disability, moderate, gait imbalance, dysmetria, pectus carinatum, kyphosis, absent eyebrow and eyelashes, narrow palate, alopecia, atopic dermatitis, dermal atrophy, excessive salivation, poor wound healing two previous variants already published in BBS1 and BBS5
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-12-08 14:12:08 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD