Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000280997 Individual ID 00387434 Associated disease MRD26 Phenotype details low birth weight, short stature, microcephaly, mild to moderate ID/developmental delay, cerebral palsy/spasticity, hyperintense signal periventricular white matter, epicanthal fold, strabismus, prominent nasal tip, anteverted nares, ear pit, narrow mouth, mild kyphosis/scoliosis, tight heel cords, hernia umbilicalis/inguinalis, sacral dimple Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 02y01m (2 years, 1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Alexander Groffen Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Alexander Groffen Date created 2021-10-29 12:37:52 +02:00 (CEST) Date last edited N/A

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