Global Variome shared LOVD

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Phenotype #0000152824 Individual ID 00204356 Associated disease FOP Phenotype details 1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; short broad femoral necks; thumb malformations; hearing impairment; reduction terminal deficits of other digits; absent nail in digits with reduction deficits; postaxial missing digit of both hands; mild cognitive impairment; primary amenorrhea; corpus callosum abnormality Diagnosis/Initial variant fibrodysplasia ossificans progressiva Inheritance Unknown Diagnosis/Definite FOP Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by LOVD Date created 2013-04-10 11:05:38 +02:00 (CEST) Date last edited 2021-12-05 14:07:40 +01:00 (CET)

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