Phenotype #0000058333

Individual ID 00078562
Associated disease AFD1
Phenotype details Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; micrognathia; hearing loss; radial ray abnormality; absent left thumb and fused right distal interphalangeal joint; radioulnar synostosis; limited range of motion in all extremities at birth, arachnodactyly, and small 5th fingers
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 4y (4 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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