Rare Disease Library

Bannayan-Riley-Ruvalcaba syndrome

BRRS · Myhre-Riley-Smith syndrome

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Smith-Fineman-Myers syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Smith-Magenis syndrome

17p11.2 microdeletion syndrome