Global Variome shared LOVD

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

Phenotype #0000058353 Individual ID 00078585 Associated disease FMD1 Phenotype details supraorbital ridges (HP:?), no small chin (-HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239) Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-07-21 10:57:08 +02:00 (CEST) Date last edited 2017-11-17 21:50:59 +01:00 (CET)

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