Rare Disease Library

Lethal polymalformative syndrome, Boissel type

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome · Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal 1p36.33 deletion syndrome

Lethal recessive chondrodysplasia

Maroteaux-Stanescu-Cousin syndrome

Lethal short-limb dwarfism, McAlister-Crane type

McAlister-Crane syndrome

Letrozole toxicity

Leukocyte adhesion deficiency

LAD

Leukocyte adhesion deficiency type I

LAD-I

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Leukocyte adhesion deficiency type III

LAD-1 variant · LAD-III

Leukodystrophy

Leukoencephalopathy with bilateral anterior temporal lobe cysts

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

LBSL · Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

Leukoencephalopathy-dystonia-motor neuropathy syndrome

Leukoencephalopathy-palmoplantar keratoderma syndrome

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

COXPD12 · LTBL

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Leukonychia totalis

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Levocardia

Isolated levocardia · Levocardia with situs inversus

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

Lewis-Sumner syndrome

MADSAM · Multifocal acquired demyelinating sensory and motor neuropathy

Leydig cell hypoplasia

46,XY DSD due to LH resistance or LHB deficiency · 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

Leydig cell hypoplasia due to complete LH resistance

46,XY DSD due to complete LH receptor inactivation · 46,XY DSD due to complete LH resistance

Leydig cell hypoplasia due to LHB deficiency

46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency

Leydig cell hypoplasia due to partial LH resistance

46,XY DSD due to partial LH receptor inactivation · 46,XY DSD due to partial LH resistance

Lhermitte-Duclos disease

Dysplastic gangliocytoma of the cerebellum · LDD

Lichen amyloidosis

Amyloid lichen · Lichen amyloidosus

Lichen myxedematosus

Lichen planopilaris

Follicular lichen planus · LPP

Lichen planus pemphigoides

LP pemphigoides

Lichen planus pigmentosus

LP pigmentosa · LP pigmentosus

Lichtenstein syndrome

Liddle syndrome

Pseudoaldosteronism

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Light and heavy chain deposition disease

LHCDD

Light chain deposition disease

LCDD

Ligneous conjunctivitis

Conjunctivitis lignosa

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Limb-girdle muscular dystrophy

LGMD

Limb-girdle muscular dystrophy due to POMK deficiency

LGMD due to POMK deficiency

Limb-mammary syndrome

LMS

Limbal stem cell deficiency

Limited cutaneous systemic sclerosis

Limited cutaneous systemic scleroderma · Progressive systemic sclerosis