Rare Disease Library

L1 syndrome

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

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Larsen syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lateral meningocele syndrome

Lehman syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Lemierre syndrome

Lemierre postanginal sepsis · Postanginal sepsis secondary to orophyngeal infection

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Limb-mammary syndrome

LMS

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Pyknoachondrogenesis

Camera syndrome

Sézary syndrome

Sézary lymphoma

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

X-linked intellectual disability, Cabezas type

Cabezas syndrome