Developmental Disorders
-
Achondroplasia
-
Apert syndrome
-
Autism
-
Blepharophimosi ptosis and epicanthus inversus syndrome - BPES
-
Carpenter syndrome 1 - CRPT1
-
Cornelia de Lange syndrome 1 - CDLS1
-
Cornelia de Lange syndrome 2 - CDLS2
-
Cornelia de Lange syndrome 5 - CDLS5
-
Craniosynostosis 4
-
Crouzon syndrome
-
Developmental Delay
-
DiGeorge syndrome
-
Epileptic encephalopathy early infantile 2 - Rett syndrome atypical
-
Fetal akinesia
-
Galloway-Mowat syndrome
-
Hypochondrioplasia
-
Jackson-Weiss syndrome
-
Langer Mesomelic dysplasia
-
Microcephaly
-
Microcephaly 1 primary autosomal recessive
-
Microcephaly 2 primary autosomal recessive
-
Microcephaly 5 primary autosomal recessive
-
Microcephaly 6 primary autosomal recessive
-
Microcephaly 7 primary autosomal recessive
-
Muenke syndrome
-
Pfeiffer syndrome
-
Rett syndrome
-
Rett syndrome congenital variant
-
Saethre-Chotzen syndrome - SCS
-
Supravalvular aortic stenosis
-
Tay Sachs disease
-
Thanatophoric Dysplasia
-
UPD14 Syndrome
-
van der Woude Syndrome1-VWS1
-
Williams-Beuren syndrome