| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000300 | Oval face | |
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| HP:0000316 | Hypertelorism | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001284 | Areflexia | |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001518 | Low birth weight | |
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| HP:0001522 | Death in infancy | |
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| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001989 | Early severe fetal akinesia sequence | |
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| HP:0002033 | Poor suck | "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] |
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| HP:0002304 | Akinesia | |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0010557 | Overlapping fingers | "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0030799 | Scaphocephaly | "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis." [HPO:probinson, PMID:16156241, PMID:23960302] |
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