| 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:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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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:0000280 | Coarse facial features | |
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| HP:0000376 | Mondini malformation | "The normal cochlea has two and one half turns. Mondini malformation refers to the development of only one and a half turns of the cochlea. The defect usually occurs in the seventh week of gestation after development of the basal turn. There is incomplete partition with resulting confluency of the middle and apical turns." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000843 | Hyperparathyroidism | |
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| HP:0000853 | Goiter | "An enlargement of the thyroid gland." [HPO:curators] |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [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: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:0001751 | Vestibular dysfunction | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002019 | Constipation | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002777 | Tracheal stenosis | |
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| HP:0002890 | Thyroid carcinoma | |
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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:0005990 | Hypoplastic thyroid | |
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| HP:0008191 | Athyroidal hypothyroidism | |
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| HP:0008223 | Compensated hypothyroidism | |
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| HP:0008527 | Congenital sensorineural hearing loss | |
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| HP:0008554 | Cochlear malformation | "A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two." [HPO:curators] |
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| HP:0008586 | Hypoplastic cochlea | |
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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:0011387 | Enlarged vestibular aqueduct | "Increased size of the vestibular aqueduct." [DDD:mbitner-glidicz] |
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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: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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