Phenotype #0000337239

Individual ID 00448050
Associated disease FANC
Diagnosis/Initial Fanconi anemia
Diagnosis/Definite FANCS
Phenotype details see paper; ..., small for gestational age, 2y-short stature (-5.3 SD); microcephaly; micrognathia; upslanting palpebral fissures, epicanthus, strabismus; cupped ears; bitemporal narrowing; skin hyperpigmented, hypopigmented; mild intellectual disability; no bone marrow failure; clinodactyly, wide intermammillary distance, patent ductus arteriosus, micropenis, bilateral cryptorchidism; family breast cancer in 3rd degree relatives
Inheritance Familial, autosomal dominant
Age/Examination 02y (2 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 Johan den Dunnen
Date created 2024-02-11 14:37:17 +01:00 (CET)
Date last edited N/A

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