Rare Disease Library

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

14q22q23 microdeletion syndrome

14q22-q23 microdeletion syndrome · Del(14)(q22q23)

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

3M syndrome

3-M syndrome · Yakut short stature syndrome

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

Acropectorovertebral dysplasia

F syndrome

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal monosomy syndrome

Autosomal deletion

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Autosomal trisomy syndrome

Autosomal duplication

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial monosomy 7 syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

H syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Isochromosomy Yp syndrome

Isochromosomy Yq syndrome

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

McDonough syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome