| 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:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| HP:0000232 | Everted lower lip | |
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| HP:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] |
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| HP:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [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:0000368 | Low-set, posteriorly rotated ears | |
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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:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000527 | Long eyelashes | "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] |
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| HP:0000574 | Thick eyebrows | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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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:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001320 | Cerebellar vermis hypoplasia | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001344 | Absent speech development | |
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| HP:0001510 | Growth retardation | |
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| HP:0002465 | Poor speech | |
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| HP:0002470 | Cerebellar ataxia, nonprogressive | |
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| HP:0002509 | Limb hypertonia | |
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| HP:0002553 | Arched eyebrows | |
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| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0008070 | Sparse hair | |
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| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
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| HP:0011451 | Congenital microcephaly | "Microcephaly (HP:0000252) that is present already at the time of birth." [HPO:probinson] |
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| HP:0012724 | Upper eyelid edema | "Edema in the region of the upper eyelid." [HPO:probinson] |
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| HP:0100540 | Palpebral edema | |
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