Global Variome shared LOVD

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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 Creative Commons Attribution 4.0 International 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)

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