Rare Disease Library

Trichorhinophalangeal syndrome type 2

Langer-Giedion syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acquired generalized lipodystrophy

Acquired lipoatrophic diabetes · Lawrence syndrome

Acrogeria

Acrogeria, Gottron type · Acrometageria

Angelman syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Cohen-Gibson syndrome

EED-related overgrowth syndrome

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Cornelia de Lange syndrome

Brachmann-de Lange syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

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

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Eisenmenger syndrome

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gardner syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Gitelman syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

L1 syndrome

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

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Lamb-Shaffer syndrome

SOX5 haploinsufficiency syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Landau-Kleffner syndrome

Acquired epileptic aphasia · LKS

Large/giant congenital melanocytic nevus

LGCMN · Large/giant CMN 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

Laryngeal abductor paralysis

Familial vocal cord dysfunction · Gerhardt syndrome

Laryngo-onycho-cutaneous syndrome

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

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Rudiger syndrome

Schinzel-Giedion syndrome

SGS

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome

Zollinger-Ellison syndrome

Gastrinoma