Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.

Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.

Research project for neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

Any ciliopathy in which the cause of the disease is a variant in the TUBB4B gene. Please note that patient diagnoses can include disorders such as Leber congenital amaurosis and/or primary ciliary dyskinesia.

A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.

Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.

Any retinopathy caused by variants in the SPATA7 gene.

Any ciliopathy caused by variants in the MKS1 gene.

Any retinopathy caused by variants in the REEP6 gene.

Any ciliopathy caused by variants in the ARL6 gene.

Any retinopathy caused by a variant in the CRX gene.

Any retinopathy caused by variants in the KCNV2 gene.

Any retinopathy caused by variants in the PROM1 gene.

Any congenital disorder of glycosylation caused by variants in the DHDDS gene.

Any retinopathy caused by a variant or variants in the PRPH2 gene.

Any retinopathy caused by a variant in the IMPDH1 gene.

Any ciliopathy caused by variants in the MKKS gene.