Phenotype #0000139691

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00174866
Associated disease	PSS
Phenotype details	PSS, intellectual disability, craniofacial anomalies; 31y-microcephaly, brachycephaly, broad forehead, long narrow nose, hypoplastic mandible, very thin lips, hypotelorism, dysplastic low set ears, no speech
Diagnosis/Initial	PSS
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	31y (31 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-08-13 22:03:05 +02:00 (CEST)
Date last edited	2018-08-13 22:07:58 +02:00 (CEST)

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