Intellectual Disability

CMA

Acondroplasia

Autism Spectrum Disorders

BBB Syndrome

Ciliopathies

Craniosynostosis

Epilepsy

Facial Dysostosis Related Disorders

Floating-Harbor Syndrome

Focal Dermal Hypoplasia

Fragile X Syndrome

Hypochondroplasia

Hypothyroidism

Intellectual Disability

Mowat-Wilson Syndrome

Opitz G

Prader-Willi Syndrome

Premature Ovarian Failure (POF1)

Rett Syndrome, Angelman Syndrome and Variant Syndromes

Rubinstein-Taybi Syndrome

Smith-Lemli-Opitz Syndrome

Sotos Syndrome

Thanatophoric Dysplasia

Thyroid Hormone Resistance

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