Rare Disease Library

Luscan-Lumish syndrome

SETD2-related overgrowth syndrome

Marfan syndrome and Marfan-related disorders

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

PRR12-related neuroocular syndrome

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Noonan syndrome and Noonan-related syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: ATR-X-related syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Okamoto syndrome

PBX1-related congenital anomalies of kidney-urinary tract syndrome

PBX1-related syndromic CAKUT

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

PIK3CA-related overgrowth syndrome

PROS

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

PRUNE1-related neurological syndrome

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

RERE-related neurodevelopmental syndrome

Rett syndrome

Revesz syndrome

Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome

Reye syndrome

Reynolds syndrome

Primary biliary cirrhosis and systemic scleroderma

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Rombo syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

SIM1-related Prader-Willi-like syndrome

SIM1-related PWLS

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

Tatton-Brown-Rahman syndrome

DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Acute myeloid leukemia · AML

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion