Rare Disease Library

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Primary basilar invagination

Bull-Nixon syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

RIN2 syndrome

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

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

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

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Triple A syndrome

2A syndrome · 3A syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

W syndrome

Pallister-W syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome