Rare Disease Library

Cystinuria

Cystinuria-lysinuria syndrome

2p21 microdeletion syndrome without cystinuria

Del(2)(p21) without cystinuria

Atypical hypotonia-cystinuria syndrome

Atypical HCS

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiofaciocutaneous syndrome

CFC syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Hypotonia-cystinuria syndrome

HCS

Hypotonia-cystinuria type 1 syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lynch syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Toxic epidermal necrolysis

Lyell syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome