| HP:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [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:0000400 | Large ears | |
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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:0000490 | Deep set eyes | |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000567 | Chorioretinal coloboma | |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000616 | Miosis | |
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| HP:0000774 | Narrow chest | |
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| HP:0001249 | Mental retardation | |
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| HP:0001322 | Brain very small | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0003043 | Abnormality of the shoulder | "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0004330 | Increased skull ossification | "An increase in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0005622 | Widened long bones with translucent metaphyseal flaring | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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