Rare Disease Library

Spondylometaphyseal dysplasia with combined immunodeficiency

Roifman-Melamed syndrome · SPENCDI

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Combined immunodeficiency with facio-oculo-skeletal anomalies

Roifman-Chitayat syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hinman syndrome

HAS · HS

Lateral meningocele syndrome

Lehman syndrome

Majeed syndrome

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

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Marfan syndrome

MFS

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Meigs syndrome

Demons-Meigs syndrome

Melhem-Fahl syndrome

MEND syndrome

Male EBP disorder with neurological defects

Menkes disease

Menkes kinky hair disease · MD

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Primary progressive aphasia

Mesulam syndrome · PPA

Progressive hemifacial atrophy

Hemifacial atrophy · PHA