| 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:0000060 | Hypoplastic clitoris | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000276 | Long face | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000307 | Pointed chin | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000325 | Triangular facies | |
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| HP:0000448 | Prominent nose | |
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| HP:0000490 | Deep set eyes | |
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| HP:0000798 | Oligospermia | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0001156 | Brachydactyly | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001518 | Low birth weight | |
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| HP:0001620 | High pitched voice | |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002376 | Developmental regression | |
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| HP:0002515 | Waddling gait | |
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| HP:0003187 | Breast hypoplasia | |
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| HP:0003498 | Short stature, disproportionate | |
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| HP:0004590 | Hypoplastic sacrum | |
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| HP:0008070 | Sparse hair | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008839 | Hypoplastic pelvis | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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| HP:0200055 | Small hands | |
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