Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Saethre Chotzen Syndrome

Also known as: acrocephalosyndactyly type III acrocephaly, skull asymmetry, and mild syndactyly ACS3 ACS type III Chotzen syndrome SCS

NORD Rare Disease Report
Sakati Syndrome

Also known as: ACPS III ACPS with Leg Hypoplasia Acrocephalopolysyndactyly Type III Sakati-Nyhan Syndrome

NORD Rare Disease Report
Sandhoff Disease

Also known as: GM2 gangliosidosis, type 2 hexosaminidases A and B deficiency beta-hexosaminidase-beta-subunit deficiency total hexosaminidase deficiency Sandhoff-Jatzkewitz-Pilz disease

NORD Rare Disease Report
Schindler disease

Also known as: Alpha-N-Acetylgalactosaminidase deficiency NAGA deficiency neuroaxonal dystrophy, Schindler type

NORD Rare Disease Report
Schinzel Syndrome

Also known as: Pallister ulnar-mammary syndrome ulnar-mammary syndrome UMS

NORD Rare Disease Report
Schwartz Jampel Syndrome

Also known as: chondrodystrophic myotonia myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies Schwartz-Jampel-Aberfeld syndrome SJA syndrome SJS

NORD Rare Disease Report
Scott Craniodigital Syndrome

Also known as: Craniodigital Syndrome-Mental Retardation, Scott Type Craniodigital Syndrome of Scott Scott Syndrome

NORD Rare Disease Report
Seckel Syndrome

Also known as: microcephalic primordial dwarfism nanocephalic dwarfism SCKL Seckel type dwarfism Seckel type primordial dwarfism

NORD Rare Disease Report
Segawa Syndrome

Also known as: autosomal dominant dopa-responsive dystonia (DRD autosomal dominant segawa syndrome DYT5 dystonia GTP cyclohydrolase 1-deficient dopa-responsive dystonia guanosine triphosphate cyclohydrolase I deficiency progressive dystonia with marked diurnal fluctuation Segawa disease

NORD Rare Disease Report
Senior-Løken Syndrome

Also known as: juvenile nephronophthisis with leber amaurosis renal dysplasia and retinal aplasia renal dysplasia-blindness, hereditary renal-retinal dysplasia renal-retinal syndrome Loken-Senior syndrome SLS

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