| 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:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000201 | Pierre-Robin sequence | |
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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:0000308 | Microretrognathia | |
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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:0000411 | Protruding ears | |
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| HP:0000448 | Prominent nose | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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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:0002827 | Dislocated hips | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0005736 | Hypoplastic tibia | |
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| HP:0006355 | Absent lower central incisors | |
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| HP:0008744 | Abnormal aryepiglottic folds | |
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| HP:0008753 | Absent/abnormal epiglottis | |
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| HP:0008807 | Acetabular dysplasia | |
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| HP:0009094 | Cleft lower alveolar ridge | |
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| HP:0009486 | Radial deviation of the hand | "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [HPO:curators] |
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| HP:0009623 | Proximally placed thumb | "Proximally displaced thumb." [HPO:curators] |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010752 | Cleft mandible | |
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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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| HP:0030043 | Hip Subluxation | "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket." [] |
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| HP:0100499 | Tibial deviation of toes | |
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