Rare Disease Library

SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome

Delpire-McNeill syndrome

2q13 microdeletion syndrome

del2q13 syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Léri-Weill dyschondrosteosis

Léri-Weill syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP 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

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Mills syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Odontotrichomelic syndrome

Freire-Maia syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD