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(HPO:0000609) | Optic nerve hypoplasia | rare [HPO:skoehler] | 26 / 7739 | |||
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(HPO:0002650) | Scoliosis | rare [HPO:skoehler] | 705 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | 67 / 7739 | ||||
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(HPO:0009013) | Congenital absence of gluteal muscles | 1 / 7739 | ||||
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(OMIM) | Mental retardation (in 2 patients) Learning disability (in 1 patient) | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |