Phenotype #0000058326

Individual ID 00078555
Associated disease AFD1
Phenotype details Nager syndrome; Absent lower eyelashes (minimal); midface retrusion; micrognathia; abnormal soft palate; abnormal ears; hearing loss; radial ray abnormality; absent thumbs (bilateral); hair extension on cheek, strabismus, mitral valve prolapse, and limited range of movement in elbows
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 1y (1 year)
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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