Rare Disease Library

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

Lennox-Gastaut syndrome

Liddle syndrome

Pseudoaldosteronism

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Lynch syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

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

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Scheie syndrome

MPS1S · MPSIS

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

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Toxic epidermal necrolysis

Lyell syndrome

Triple A syndrome

2A syndrome · 3A syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked dystonia-parkinsonism

DYT3 · Lubag

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome