Phenotype #0000017781

Individual ID 00020018
Associated disease FANCQ
Phenotype details bilateral absent thumbs, microsomy, esophageal atresia, a ventrally translocated anus, dysplastic and low-set ears; Nodermatological abnormality such as skin hyperpigmentation, photosensitivity, sunlight-induced scarring, or atrophy; BMF at the age of 2 years
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Arleen D. Auerbach
Database submission license No license selected
Created by Arleen D. Auerbach
Date created 2013-06-19 04:10:48 +02:00 (CEST)
Date last edited 2013-06-19 04:30:25 +02:00 (CEST)

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