Rare Disease Library

L1 syndrome

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

Larsen syndrome

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Houge-Janssens syndrome type 2

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multiple synostoses syndrome

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

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

5q- syndrome · MDS

N syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Ogden syndrome

Premature aging appearance-developmental delay-cardiac arrhythmia syndrome

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Progressive non-infectious anterior vertebral fusion

PAVF · Copenhagen syndrome

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Pyknoachondrogenesis

Camera syndrome

Rasmussen subacute encephalitis

Rasmussen syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 2 syndrome

Ring chromosome 2 · Ring 2

Ring chromosome 3 syndrome

Ring chromosome 3 · Ring 3

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 5 syndrome

Ring chromosome 5 · Ring 5

Ring chromosome 6 syndrome

Ring chromosome 6 · Ring 6

Ring chromosome 7 syndrome

Ring 7 · Ring chromosome 7

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Ring chromosome 9 syndrome

Ring chromosome 9 · Ring 9

Ring chromosome syndrome

Ring chromosome Y syndrome

r(Y) · Ring chromosome Y

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

SOLAMEN syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Triple A syndrome

2A syndrome · 3A syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome