Phenotype #0000058360

Individual ID 00078592
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 cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), 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 11:40:50 +02:00 (CEST)
Date last edited 2017-11-17 21:57:18 +01:00 (CET)

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