Disease Directory

SF3B4-related acrofacial dysostosis is a congenital malformation syndrome. It is marked by differences in the face and jaw (mandibulofacial dysostosis...

Information about the overview of this condition is currently limited for this condition. SFTPC-related interstitial lung disease is also known by oth...

SHORT syndrome is a rare disorder marked by several congenital anomalies. People with this condition commonly show small stature, joint hyperextensibi...

SHOX-related short stature is a type of primary bone dysplasia where people have a height that is significantly below the average for their age, sex,...

SIM1-related Prader-Willi-like syndrome is a rare condition that is also known by several synonyms including SIM1-related PWLS, PWS-like due to a poin...

Information about overview is currently limited for this condition.

Information about overview is currently limited for this condition.

SLC10A7-congenital disorder of glycosylation, also known as SLC10A7 deficiency, is a rare condition caused by compound heterozygous mutations in the S...

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome is a rare condition. Its name indicates that people with t...

SLC35A1-congenital disorder of glycosylation (SLC35A1-CDG) is an extremely rare condition that falls under the group of congenital disorders of glycos...

SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is a multisystem neurodevelopmental condition caused by pathogenic variants in the SLC35A2...

Information about this condition is currently limited. SLC39A8-CDG is a rare genetic disorder that is also known by names such as CDG syndrome type II...

SLC6A3-related dopamine transporter deficiency syndrome is a complex movement disorder. It shows up as problems with movement like tremor, stiffness,...

Information about overview is currently limited for this condition.

SMARCB1-deficient kidney medullary carcinoma is a high-grade cancer that starts in the inner part of the kidney known as the renal medulla. This cance...

Information about overview is currently limited for this condition.

SNRNP200-related dominant retinopathy is a type of retinopathy, which is a condition affecting the retina, the part of the eye that senses light and s...

SNUPN-related muscular dystrophy with or without multi-system involvement is a form of congenital muscular dystrophy caused by changes in the SNUPN ge...

SOX11-related complex neurodevelopmental disorder with or without congenital anomalies is an autosomal dominant condition that affects brain developme...

SPATA7-related retinopathy is a condition that affects the retina of the eye. This condition occurs when there are changes or variants in the SPATA7 g...