Phenotype #0000054304

Individual ID 00074497
Associated disease CPSFS1A
Phenotype details downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), no elbow contractures (-HP:0002987), limited forearm supination (HP:0006394), hip contractures (HP:0003273), no knee contractures (-HP:0006380), no popliteal webbing (-HP:0009756), clubfeet (HP:0001762), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), no vertebral fusion (-HP:0002948), ventricular septal defect (HP:0001629)
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
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 2016-07-05 13:47:25 +02:00 (CEST)
Date last edited 2018-01-19 22:26:54 +01:00 (CET)

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