Rare Disease Library

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Infection-related hemolytic uremic syndrome

Infection-related HUS

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Joubert syndrome and related disorders

JSRD

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

KLHL7-related Crisponi/cold-induced sweating-like syndrome

KLHL7-related Crisponi-like syndrome

L1 syndrome

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

LAMA5-related multisystemic syndrome

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

Luscan-Lumish syndrome

SETD2-related overgrowth syndrome

Majeed syndrome

Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Marfan syndrome and Marfan-related disorders

MBD4-related tumor predisposition syndrome

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

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

N syndrome

Noonan syndrome and Noonan-related syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: ATR-X-related syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Osteosclerotic bone dysplasia

Raine syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

PBX1-related congenital anomalies of kidney-urinary tract syndrome

PBX1-related syndromic CAKUT

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

PIK3CA-related overgrowth syndrome

PROS

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

PRUNE1-related neurological syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Radio-renal syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Recombinant 8 syndrome

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

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

RERE-related neurodevelopmental syndrome