| 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:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
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| HP:0000278 | Retrognathia | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000851 | Congenital hypothyroidism | |
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| HP:0001249 | Mental retardation | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [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:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0002019 | Constipation | |
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| HP:0002176 | Spinal cord compression | |
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| HP:0002653 | Bone pain | |
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| HP:0002730 | Chronic noninfectious lymphadenopathy | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002895 | Papillary thyroid carcinoma | |
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| HP:0003003 | Colon cancer | |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [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:0005994 | Nodular goiter | |
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| HP:0006528 | Chronic lung disease | |
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| HP:0006731 | Follicular thyroid carcinoma | |
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| HP:0006766 | Papillary renal cell carcinoma | |
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| HP:0008191 | Athyroidal hypothyroidism | |
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| HP:0010564 | Bifid epiglottis | "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." [HPO:curators] |
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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:0011362 | Abnormal hair quantity | "An abnormal amount of hair." [DDD:cmoss] |
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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:0012288 | Neoplasm of head and neck | "A neoplasm of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, and larynx." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0100786 | Hypersomnia | |
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| HP:3000037 | Abnormality of neck blood vessel | "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] |
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