Phenotype #0000060990

Individual ID 00081424
Associated disease FANC
Diagnosis/Initial Fanconi anemia
Diagnosis/Definite FANCV
Phenotype details severe bone marrow failure (HP:0005528) involving all 3 lineages (hemoglobin, 8.0 g/dl; neutrophil count, 0.43×10ˆ9/l; platelets, 10 × 10^9/l), Fanconi anemia physical signs
(short size (HP:0004322) at less than tenth percentile, microcephaly (HP:0000252), abnormal facial features (HP:0000271)), renal tubulopathy (HP:0000091), elevated serum alpha-fetoprotein (HP:0006254), positive mitomycine C (MMC) chromosome breakage test blood lymphocytes
Inheritance Familial, autosomal recessive
Age/Examination 08y (8 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 2016-10-10 21:49:38 +02:00 (CEST)
Date last edited 2019-07-28 12:17:39 +02:00 (CEST)

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