Individual with autosomal fragile site
Q97.8 Other specified sex chromosome abnormalities, female phenotype
Other specified sex chromosome abnormalities, female phenotype
Q95.8 Other balanced rearrangements and structural markers
Other balanced rearrangements and structural markers
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
Sex chromosome abnormality, female phenotype, unspecified
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine Notes: Hypochondrogenesis ; Asphyxiating thoraci…
Osteochondrodysplasia with defects of growth of tubular bones and spine Notes: Hypochondrogenesis ; Asphyxiating thoracic dysplasia ; Hypochondroplasia ; Osteosclerosis congenita ; Ellis-van Creveld ...
Q78.4 Enchondromatosis Notes: Maffucci’s syndrome ; Ollier’s disease
Enchondromatosis Notes: Maffucci's syndrome ; Ollier's disease
