Rare Disease Library

N syndrome

Neu-Laxova syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

Primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Seckel syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

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

Sillence syndrome

Brachydactyly-symphalangism syndrome

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency

Toxic epidermal necrolysis

Lyell syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked dystonia-parkinsonism

DYT3 · Lubag

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome