Rare Disease Library

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cardiofaciocutaneous syndrome

CFC syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Cerebellar ataxia-ectodermal dysplasia syndrome

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cerebrocostomandibular syndrome

Cerebrofacioarticular syndrome

Van Maldergem syndrome

Cerebrooculonasal syndrome

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

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

Coats plus syndrome

CRMCC · Cerebroretinal microangiopathy with calcifications and cysts

Combined dystonia

Dystonia-plus syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Duplication of the pituitary gland

DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome

Endosteal sclerosis-cerebellar hypoplasia syndrome

EVEN-plus syndrome

Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome

Ferro-cerebro-cutaneous syndrome

Cerebro-cutaneous syndrome with iron overload

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Hydrocephaly-cerebellar agenesis syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progressive supranuclear palsy

PSP syndrome

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome