Rare Disease Library

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

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

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Larsen syndrome

Larsen-like syndrome, B3GAT3 type

Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects 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

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Lethal Larsen-like 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

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Muenke 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

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

PEHO-like syndrome

Prader-Willi-like syndrome

PWS-like

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Proteus-like syndrome

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Reunion Island Larsen-like syndrome

Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Sagliker syndrome

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

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

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Toxic epidermal necrolysis

Lyell syndrome

Triple A syndrome

2A syndrome · 3A syndrome