Global Variome shared LOVD

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

Phenotype #0000058464 Individual ID 00078696 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), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), no cervical vertebral fusion (-HP:0002949), no flared metaphyses (-HP:0003015), no digital and wrist contractures (-HP:0001239), under modeled phalanges (HP:?) Diagnosis/Initial - Inheritance Familial, autosomal 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 12:13:18 +02:00 (CEST) Date last edited 2017-11-17 22:16:02 +01:00 (CET)

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