Phenotype #0000272286

Individual ID	00377102
Associated disease	MRX41
Phenotype details	Macrocephaly, Abnormal location of ears, Low-set ears, Delayed speech and language development, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Hypopigmentation of the skin, Global developmental delay, Abnormal foot morphology, Pes planus, Neurological speech impairment, Language impairment, Abnormality of skin morphology, Neurodevelopmental delay, Increased head circumference
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2021-07-04 15:17:26 +02:00 (CEST)
Date last edited	2021-07-07 21:27:05 +02:00 (CEST)

Global Variome shared LOVD