Rare Disease Library

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

L1 syndrome

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

Laryngo-onycho-cutaneous syndrome

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

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Marden-Walker syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Monoamine oxidase A deficiency

Brunner syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Nevo syndrome

Cerebral gigantism, Nevo type

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PHAVER syndrome

Powell-Chandra-Saal syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma