Rare Disease Library

Syndromic autoimmune enteropathy due to LRBA deficiency

Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein

Syndromic beta-thalassemia

Syndromic biliary atresia

Syndromic breast hypoplasia/aplasia

Syndromic cataract

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

Syndromic constitutional thrombocytopenia

Syndromic corneal dystrophy

Syndromic craniosynostosis

Syndromic diaphragmatic or abdominal wall malformation

Syndromic diaphragmatic or thoracic malformation

Syndromic disorder with strabismus

Syndrome with a symptomatic strabismus

Syndromic ectopia lentis

Syndromic epicanthus

Syndromic esophageal malformation

Syndromic eyelid coloboma

Syndromic palpebral coloboma

Syndromic gastroduodenal malformation

Syndromic genetic cataract

Syndromic genetic disorder with strabismus

Syndromic genetic ectopia lentis

Syndromic genetic keratoconus

Syndromic hair shaft abnormality

Syndromic hereditary optic neuropathy

Syndromic hyperopia

Syndromic hypothyroidism

Syndromic intestinal malformation

Syndromic keratoconus

Syndromic lacrimal system disorder

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

Syndromic microspherophakia

Syndromic multisystem autoimmune disease due to Itch deficiency

Syndromic nail anomaly

Syndromic obesity

Syndromic oculocutaneous albinism

Syndromic optic nerve hypoplasia

Syndromic orbital border hypoplasia

Urrets-Zavalia syndrome

Syndromic outer canthal malposition

Malposition of external canthus

Syndromic recessive X-linked ichthyosis

Syndromic RXLI · Recessive X-linked ichthyosis with extracutaneous manifestations

Syndromic renal or urinary tract malformation

Syndromic respiratory or mediastinal malformation

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Syndromic sensorineural hearing loss due to COXPD · Syndromic sensorineural deafness due to COXPD

Syndromic telecanthus

Syndromic urogenital tract malformation

Syndromic uterovaginal malformation

Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

SYNGAP1-related developmental and epileptic encephalopathy

SYNGAP1-related DEE