Global Variome shared LOVD

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

Phenotype #0000058358 Individual ID 00078590 Associated disease FMD1 Phenotype details supraorbital ridges (HP:?), no small chin (-HP:0000331), no hearing loss (-HP:0000365), hypertelorism (HP:0000316), no downslanting palpebral fissures (-HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), no flared metaphyses (-HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), no broad thumbs (-HP:0011304), no 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 11:28:12 +02:00 (CEST) Date last edited 2017-11-17 21:55:55 +01:00 (CET)

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