Phenotype #0000054225

Individual ID 00074407
Associated disease CPSFS1A
Phenotype details downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), knee contractures (HP:0006380), popliteal webbing (HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), vertebral fusion T10-L3 (HP:0002948)
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 2016-06-27 18:03:20 +02:00 (CEST)
Date last edited 2017-07-24 21:13:00 +02:00 (CEST)

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