Bursting...
MendelianAD - achondroplasia, tuberous sclerosis, Huntington, neurofibromatosis, myotonic dystrophy
AR - congenital adrenal hyperplasia, phenylketonuria, galactosemia
XLR - Duchenne's, G6PD deficiency, haemophilla
XLD - incontinentia pigmentosa
Chromosomal
Trisomies - Down (21), Edwards (18), Patau (13)
Turner, Klinefelter
Polygenic
spina bifida, cleft lip/palate
Mitochondrial
MELAS (mitochondral encephalopathy w lactic acidosis & stroke-like episodes)
MERRF (myoclonic epilepsy w ragged red fibres)
Wei Qiang converses @ 19:01
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