Phenotype #0000317885

Individual ID	00426731
Associated disease	-
Phenotype details	severe respiratory distress, pulmonary hypertension and throm bocytopenia; nevus flammeus, exophthalmos, hypertelorism, low-set ears, micrognathia and microcephaly; BOS posture and rhizomelic upper limb shortening; global developmental delay and absent speech. Retinal findings by Heng 2019: soft confluent pale yellow lesions in mid-periphery, attenuated vessels, waxy optic disc, bulls-eye maculopathy; depigmented area around the fovea giving
Diagnosis/Initial	Bohring-Opitz syndrome (BOS)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-12-02 14:17:29 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD