| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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| HP:0000476 | Cystic hygroma of the neck | "A cystic lymphatic lesion of the neck." [HPO:curators] |
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| HP:0001059 | Pterygia | "Pterygia are winglike triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:curators] |
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| HP:0001262 | Somnolence | |
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| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001989 | Early severe fetal akinesia sequence | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002304 | Akinesia | |
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| HP:0002375 | Hypokinesia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002828 | Multiple joint contractures | |
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| HP:0003700 | Generalized amyotrophy | "Generalized wasting of loss of muscle tissue." [HPO:curators] |
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| HP:0005245 | Hypoplastic intestines | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0010489 | Aplasia of the palmar creases | "Absence of the palmar creases." [HPO:curators] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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