Phenotype #0000130122

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00164990
Associated disease	DD
Phenotype details	see paper; ..., gait with increased tone; developmental delays/autism; facial anomalies with wide-set eyes, downslanting palpebral fissures, a flat nasal bridge and micrognathia; cataracts
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Anne Slavotinek
Database submission license	No license selected
Created by	Anne Slavotinek
Date created	2018-07-04 00:57:14 +02:00 (CEST)
Date last edited	2019-04-11 12:09:33 +02:00 (CEST)

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