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16p13.11 microdeletion syndrome
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(Orphanet:261236)
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1p36 deletion syndrome
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(Orphanet:1606)
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22q11.2 deletion syndrome
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(Orphanet:567)
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49,XXXXY syndrome
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(Orphanet:96264)
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Acalvaria
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(Orphanet:945)
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Acrofacial dysostosis, Rodriguez type
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(Orphanet:1788)
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Agnathia - holoprosencephaly - situs inversus
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(Orphanet:990)
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Aicardi-Goutières syndrome
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(Orphanet:51)
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Aminopterin/methotrexate embryofetopathy
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(Orphanet:1908)
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Anophthalmia/microphthalmia - esophageal atresia
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(Orphanet:77298)
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CHARGE syndrome
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(Orphanet:138)
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Caudal regression sequence
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(Orphanet:3027)
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Combined oxidative phosphorylation defect type 14
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(Orphanet:319519)
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Congenital lactic acidosis, Saguenay-Lac-St. Jean type
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(Orphanet:70472)
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Craniotelencephalic dysplasia
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(Orphanet:1528)
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Distal monosomy 13q
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(Orphanet:1590)
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Distal monosomy 7q36
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(Orphanet:1636)
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Frontonasal dysplasia
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(Orphanet:250)
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Hartsfield-Bixler-Demyer syndrome
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(Orphanet:2117)
|
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Holoprosencephaly
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(Orphanet:2162)
|
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Holoprosencephaly - caudal dysgenesis
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(Orphanet:2165)
|
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Holoprosencephaly - craniosynostosis
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(Orphanet:2163)
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Holoprosencephaly - postaxial polydactyly
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(Orphanet:2166)
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Holoprosencephaly - radial heart renal anomalies
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(Orphanet:3186)
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Hydrocephalus with stenosis of aqueduct of Sylvius
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(Orphanet:2182)
|
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Hydrolethalus
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(Orphanet:2189)
|
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Iniencephaly
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(Orphanet:63259)
|
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Meckel syndrome
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(Orphanet:564)
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Microcephaly - brain defect - spasticity - hypernatremia
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(Orphanet:2523)
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Microgastria - limb reduction defect
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(Orphanet:2538)
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Microphthalmia with limb anomalies
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(Orphanet:1106)
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Monosomy 13q14
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(Orphanet:1587)
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Monosomy 18p
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(Orphanet:1598)
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Morse-Rawnsley-Sargent syndrome
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(Orphanet:2570)
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Mosaic variegated aneuploidy syndrome
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(Orphanet:1052)
|
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Mowat-Wilson syndrome
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(Orphanet:2152)
|
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Muscle-eye-brain disease
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(Orphanet:588)
|
|
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
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(Orphanet:88618)
|
|
Smith-Lemli-Opitz syndrome
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(Orphanet:818)
|
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Solitary median maxillary central incisor syndrome
|
(Orphanet:2286)
|
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Thanatophoric dysplasia type 2
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(Orphanet:93274)
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Triploidy
|
(Orphanet:3376)
|
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Trisomy 18
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(Orphanet:3380)
|
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VACTERL with hydrocephalus
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(Orphanet:3412)
|
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Yunis-Varon syndrome
|
(Orphanet:3472)
|