Rare Disease Library

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Ataxia-telangiectasia

Louis-Bar syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Blue rubber bleb nevus

Bean syndrome · BRBN

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

Hinman syndrome

HAS · HS

Hypergonadotropic hypogonadism-cataract syndrome

Lubinsky syndrome

L1 syndrome

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

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Laryngo-onycho-cutaneous syndrome

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

Lateral meningocele syndrome

Lehman syndrome

Laurin-Sandrow syndrome

Mirror hands and feets-nasal defects syndrome · Sandrow syndrome

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

LUMBAR syndrome

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

Luscan-Lumish syndrome

SETD2-related overgrowth syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Sandifer syndrome

SAPHO syndrome

Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

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

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

X-linked dystonia-parkinsonism

DYT3 · Lubag

Yunis-Varon syndrome

Cleidocranial dysplasia-micrognathia-absent thumbs syndrome