Global Variome shared LOVD

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

Phenotype #0000058361 Individual ID 00078593 Associated disease FMD1 Phenotype details supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500) 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 11:45:21 +02:00 (CEST) Date last edited 2017-11-17 21:58:04 +01:00 (CET)

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