-
| 3376 | Triploidy
-
| 1692 | Mosaic trisomy 1
-
| 1698 | Mosaic trisomy 12
-
| 1706 | Mosaic trisomy 15
-
| 916 | Aase-Smith syndrome
-
| 918 | ABCD syndrome
-
| 920 | Ablepharon macrostomia syndrome
-
| 1445 | Ring chromosome 21 syndrome
-
| 7 | 3C syndrome
-
| 931 | Acheiropodia
-
| 929 | Achalasia-microcephaly syndrome
-
| 869 | Triple A syndrome
-
| 2297 | Insulin-resistance syndrome type A
-
| 922 | Familial nasal acilia
-
| 921 | Abruzzo-Erickson syndrome
-
| 27 | Vitamin B12-unresponsive methylmalonic acidemia
-
| 939 | 3-hydroxyisobutyric aciduria
-
| 31 | Oxoglutaric aciduria
-
| 935 | Short-limb skeletal dysplasia with severe combined immunodeficiency
-
| 932 | Achondrogenesis
-
| 1795 | Peripheral dysostosis
-
| 37 | Acrodermatitis enteropathica
-
| 950 | Acrodysostosis
-
| 949 | Acrocraniofacial dysostosis
-
| 945 | Acalvaria
-
| 946 | Acrocephalosyndactyly
-
| 957 | Acropectorovertebral dysplasia
-
| 958 | Acro-renal-mandibular syndrome
-
| 955 | Acroosteolysis dominant type
-
| 956 | Acropectororenal dysplasia
-
| 952 | Acrofacial dysostosis, Weyers type
-
| 1702 | Non-distal trisomy 13q
-
| 1703 | Mosaic trisomy 14
-
| 1705 | Distal trisomy 14q
-
| 1713 | 17p11.2 microduplication syndrome
-
| 1738 | Trisomy 4p
-
| 1742 | Trisomy 5p
-
| 1745 | Distal trisomy 6p
-
| 1752 | Trisomy 8q
-
| 1762 | Trisomy Xq28
-
| 1878 | Autosomal recessive limb-girdle muscular dystrophy type 2H
-
| 1877 | Muscular dystrophy-white matter spongiosis syndrome
-
| 1876 | Oculogastrointestinal muscular dystrophy
-
| 1948 | Epilepsy-microcephaly-skeletal dysplasia syndrome
-
| 1946 | Amelocerebrohypohidrotic syndrome
-
| 1981 | Fanconi syndrome-ichthyosis-dysmorphism syndrome
-
| 1951 | Epilepsy-telangiectasia syndrome
-
| 381 | Griscelli syndrome
-
| 2604 | Familial visceral myopathy
-
| 156 | Carnitine palmitoyl transferase 1A deficiency
-
| 2597 | Mitochondrial myopathy-lactic acidosis-deafness syndrome
-
| 2598 | Mitochondrial myopathy and sideroblastic anemia
-
| 1078 | Thumb stiffness-brachydactyly-intellectual disability syndrome
-
| 1077 | Dental ankylosis
-
| 1074 | Ankyloblepharon filiforme adnatum-imperforate anus syndrome
-
| 1072 | Ankyloblepharon filiforme adnatum-cleft palate syndrome
-
| 1071 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
-
| 1069 | Aniridia-absent patella syndrome
-
| 1068 | Aniridia-intellectual disability syndrome
-
| 1067 | Aniridia-ptosis-intellectual disability-familial obesity syndrome
-
| 1064 | Aniridia-renal agenesis-psychomotor retardation syndrome
-
| 1062 | Hereditary neurocutaneous malformation
-
| 138221 | Sucking/swallowing disorder
-
| 1060 | Systemic cystic angiomatosis-Seip syndrome
-
| 138118 | Acquired alimentary behavior disorder of infancy
-
| 1053 | Vein of Galen aneurysmal malformation
-
| 138115 | Sucking/swallowing disorder associated with a neuromuscular disease
-
| 138112 | Sucking/swallowing disorder associated with cerebellar anomalies
-
| 1055 | Fetal left ventricular aneurysm
-
| 138109 | Sucking/swallowing disorder associated with posterior fossa anomalies
-
| 138104 | Sucking/swallowing disorder associated with basal ganglia anomalies
-
| 1052 | Mosaic variegated aneuploidy syndrome
-
| 138101 | Sucking/swallowing disorder associated with suprabulbar anomalies
-
| 138095 | Sucking/swallowing disorder associated with neurologic anomalies
-
| 138084 | Sucking/swallowing disorder associated to cervicofacial or esophageal malformation
-
| 1040 | Metaphyseal anadysplasia
-
| 138080 | Syndromic sucking/swallowing disorder with unidentifyed syndrome
-
| 1041 | Hydrops fetalis
-
| 138076 | Sucking/swallowing disorder associated to a chromosomal anomaly
-
| 1037 | Arthrogryposis multiplex congenita
-
| 138072 | Sucking/swallowing disorder associated with an identified syndrome
-
| 1126 | Aprosencephaly cerebellar dysgenesis
-
| 1125 | Ocular motor apraxia, Cogan type
-
| 1121 | Radial deficiency-tibial hypoplasia syndrome
-
| 1120 | Lung agenesis-heart defect-thumb anomalies syndrome
-
| 1122 | Ulnar hypoplasia-split foot syndrome
-
| 1116 | Aplasia cutis congenita-intestinal lymphangiectasia syndrome
-
| 1115 | Recessive aplasia cutis congenita of limbs
-
| 1118 | Fibular aplasia-ectrodactyly syndrome
-
| 1117 | Aplasia cutis-myopia syndrome
-
| 1110 | Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
-
| 1113 | Aphalangy-syndactyly-microcephaly syndrome
-
| 1112 | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
-
| 1106 | Microphthalmia with limb anomalies
-
| 83 | Antley-Bixler syndrome
-
| 1102 | Anophthalmia-hypothalamo-pituitary insufficiency syndrome
-
| 1104 | Anophthalmia plus syndrome
-
| 1094 | Anonychia-microcephaly syndrome
-
| 1092 | Renal-genital-middle ear anomalies
-
| 991 | PAGOD syndrome
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