Multiple Malformations/Anomalies Syndromes

CMA

Aarskog-Scott Syndrome (Faciogenital Dysplasia)

Achondroplasia

BBB Syndrome

CHARGE Syndrome

Ciliopathies

Cleidocranial Dysplasia (CCD)

Congenital Disorder Of Glycosylation

Congenital Limb Malformation

Congenital Myopathy

Craniosynostosis

Ectodermal Dysplasia

Facial Dysostosis Related Disorders

Fetal and Neonatal Loss

Fibrosis of Extraocular Muscles

Floating-Harbor Syndrome

Fragile X Syndrome

Gorlin Syndrome

Heterotaxy Syndrome

Kallmann Syndrome

Mowat-Wilson Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Opitz G

Premature Ovarian Failure (POF1)

Rubinstein-Taybi Syndrome

Skeletal Disorders and Joint Problems

Smith-Lemli-Opitz Syndrome

Sotos Syndrome

Stickler Syndrome Type 1

Strabismus Syndrome

Townes-Brocks Syndrome

Tricho-rhino-phalangeal Syndrome

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