Rare Disease Library

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q22.1 microdeletion syndrome

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

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

9q21.13 microdeletion syndrome

Achalasia-microcephaly syndrome

Acropectorovertebral dysplasia

F syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

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 recessive spastic paraplegia type 21

Mast syndrome · SPG21

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-microcornea syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

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

Mehes syndrome

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Feingold syndrome

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

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

Liang-Wang syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

H syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

15q26.3 microdeletion syndrome

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

MOMES syndrome

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

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

Marden-Walker syndrome

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