| 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:0000194 | Open mouth | |
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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:0000331 | Small chin | |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000522 | Alacrima | |
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| HP:0000559 | Corneal scarring | |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0001075 | Atrophic scars | |
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| HP:0001188 | Clenched hands | |
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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:0001371 | Contractures | |
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| HP:0001510 | Growth retardation | |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001662 | Bradycardia | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0001945 | Fever | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0003093 | Limited elbow and hip extension | |
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| HP:0007610 | Blotching pigmentation of the skin | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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