Additional Disease Briefs

sarcosinemia

Also known as: SARCOS, SARD deficiency, SARDH deficiency, hypersarcosinemia, sarcosine dehydrogenase complex deficiency, sarcosinemia

SATB2 associated disorder

Also known as: SAS, SATB2 associated disorder, SATB2-associated syndrome

Satoyoshi syndrome

Also known as: Komuragaeri disease, Satoyoshi syndrome, muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities, muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities, muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities

Say-Barber-Miller syndrome

Also known as: Say Barber Miller syndrome, microcephaly hypogammaglobulinemia abnormal immunity, microcephaly with chemotactic defect and transient hypogammaglobulinemia, microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

scalp defects-postaxial polydactyly syndrome

Also known as: congenital scalp defects associated with postaxial polydactyly, scalp defects and postaxial polydactyly, scalp defects postaxial polydactyly

scalp syndrome

Also known as: sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome, sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome

scalp-ear-nipple syndrome

Also known as: Finlay-Marks syndrome, SENS, Sen syndrome, hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples, scalp ear nipple syndrome, scalp-EAR-nipple syndrome, scalp-ear-nipple syndrome

scapuloperoneal spinal muscular atrophy, autosomal dominant

Also known as: SPSMA, amyotrophy, neurogenic scapuloperoneal, New England type, neurogenic scapuloperoneal amyotrophy, New England type, scapuloperoneal neuronopathy, scapuloperoneal spinal muscular atrophy

scedosporiosis

Schaaf-Yang syndrome

Also known as: Chitayat-Hall syndrome, MAGEL2-related PWLS, MAGEL2-related Prader-Willi-like syndrome, PWS due to a point mutation, Prader-Willi syndrome due to point mutation, Prader-Willi-like syndrome, SHFYNG, Schaaf-Yang syndrome, arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies, arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies, distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies