Phenotype #0000337240

Individual ID	00448051
Associated disease	FANC
Diagnosis/Initial	Fanconi anemia
Diagnosis/Definite	FANCS
Phenotype details	see paper; ..., 13m-deceased; small for gestational age, weight -0.3 SD (<3%ile,) OFC -4.2 SD (<3%ile); laryngotracheomalacia, hypoglycemia, respiratory distress, congenital cataract left eye; microcephaly; micrognathia, laryngotracheo-malacia; low set retrorotated ears; parse hair, bitemporal narrowing, broad nasal bridge/tip, thickened alae nasi, anteverted nares, deep philtrum; skin hyperpigmented, not hypopigmented; no bone marrow failure; wide intermammillary distance, bilateral transverse palmar crease, fifth finger brachydactyly, bilateral 2-3 toe syndactyly, hypoglycaemia; 13m-malignant central nervous system tumour, WHO grade 4
Inheritance	Familial, autosomal dominant
Age/Examination	00y13m (13 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-11 14:50:11 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD