Phenotype #0000203689

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00239141
Associated disease	?
Diagnosis/Initial	mixed phenotype
Diagnosis/Definite	MACS;BBS-7
Phenotype details	height 124cm (-3.4 SD), polydactyly, walking difficulties, speech impairment, no blindness, macrocephaly, alopecia, scoliosis, cutis laxa, no umbilical hernia, facial coarsening
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Sadaf Naz
Database submission license
Created by	Johan den Dunnen
Date created	2019-10-11 17:06:17 +02:00 (CEST)
Date last edited	N/A

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