Phenotype #0000058324

Individual ID 00078553
Associated disease AFD1
Phenotype details Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; ankylosis of temporomandibular joint; high arched, cleft soft palate; tracheotomy; abnormal ears; hearing loss; absent right thumb and small and stiff left thumb; radioulnar synostosis; delayed development; limited range of movement in elbows and shoulders, camptodactyly, left clubfoot, renal abnormalities, ventriculoseptal defect and dacryostenosis
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2012-06-06 09:16:40 +02:00 (CEST)
Date last edited N/A

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