Spondylodysplastic Type AR 99.92 11 of 11 BMP4 Syndromic Microphthalmia, Cleft Lip/Palate, Microphthalmia With Brain And Digit Anomalies AD,MU,P 100 38 of 42 BPNT2 Chondrodysplasia With Joint Dislocations AR 97.04 4 of 4 CCBE1 Hennekam Lymphangiectasia- Lymphedema [igenomix.es]

Red List (low evidence) BMP4 2 reviews 1 red Not set Sources NHS GMS Phenotypes orofacial cleft Microphthalmia, syndromic type 6 607932 Tags Red Red List (low evidence) CCBE1 2 reviews 1 red Not set Sources NHS GMS Phenotypes Hennekam-lymphangiectasia-lymphedema [panelapp.genomicsengland.co.uk]

Rickets AR 99.89 11 of 11 DONSON Microcephaly-Micromelia Syndrome, Microcephaly, Short Stature, And Limb Abnormalities AR 98.14 26 of 27 DPF2 Coffin-Siris Syndrome AD 99.99 10 of 10 DPH1 Developmental Delay With Short Stature, Dysmorphic Features, And Sparse [igenomix.es]

Lentis, Geleophysic Dysplasia, Marfan Lipodystrophy Syndrome, Mass Syndrome, Weill-Marchesani Syndrome, Acromicric Dysplasia, Shprintzen– Goldberg Syndrome AD 100 2836 of 2845 FGF9 Multiple Synostoses Syndrome AD 100 2 of 2 FGFR1 Encephalocraniocutaneous [igenomix.es]

lentis 225200/225100 Tags Red Red List (low evidence) AHDC1 2 reviews Not set Sources NHS GMS Phenotypes Xia-Gibbs syndrome 615829 Tags Red Red List (low evidence) ALX1 2 reviews 1 red Not set Sources NHS GMS Phenotypes Frontonasal dysplasia type 3 Tags [panelapp.genomicsengland.co.uk]