Phenotype #0000280995

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00387432
Associated disease	MRD26
Phenotype details	short stature, microcephaly, intellectual disability/developmental delay, cerebral palsy/spasticity, hypertelorism, epicanthal fold, micro/retrognathia, low set ears, large hands and feet
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	00y11m (11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	-
Owner name	Alexander Groffen
Database submission license
Created by	Alexander Groffen
Date created	2021-10-29 12:19:35 +02:00 (CEST)
Date last edited	N/A

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