Phenotype #0000337232

Individual ID 00448043
Associated disease FANC
Diagnosis/Initial Fanconi anemia
Diagnosis/Definite FANCS
Phenotype details see paper; ..., 2y6m-short stature (-6.1 SD); microcephaly; micrognathia; upslanting palpebral fissures, long eye lashes; abnormal ear; bitemporal narrowing; skin hyperpigmented, not hypopigmented; intellectual disability; no bone marrow failure; clinodactyly, atrial septal defect; 6y-diffuse astrocytoma; 3y9m-died following decompressive neurosurgery; breast cancer in 1st, 2nd and 4th degree relatives
Inheritance Familial, autosomal recessive
Age/Examination 02y06m (2 years, 6 months)
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 2024-02-10 19:34:31 +01:00 (CET)
Date last edited 2024-02-10 19:37:30 +01:00 (CET)

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