| HP:0000023 | Inguinal hernia | |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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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:0000238 | Hydrocephalus | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000365 | Hearing loss | |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000470 | Short neck | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000687 | Widely spaced teeth | |
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| HP:0000943 | Dysostosis multiplex | |
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| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
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| HP:0001085 | Papilledema | "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001371 | Contractures | |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001609 | Hoarse voice | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0002014 | Diarrhea | |
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| HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
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| HP:0002159 | Heparan sulfate excretion in urine | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002341 | Cervical cord compression | |
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| HP:0002786 | Tracheobronchomalacia | |
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| HP:0002808 | Kyphosis | |
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| HP:0002870 | Obstructive sleep apnea | "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:curators] |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003541 | Dermatan and heparan sulfate excretion in urine | |
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| HP:0004389 | Intestinal pseudo-obstruction | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0008301 | Dermatan sulfate excretion in urine | |
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| HP:0030799 | Scaphocephaly | "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis." [HPO:probinson, PMID:16156241, PMID:23960302] |
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