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(HPO:0000133) | Gonadal dysgenesis | 21 / 7739 | ||||
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(HPO:0007033) | Cerebellar dysplasia | 13 / 7739 | ||||
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(HPO:0007260) | Type II lissencephaly | 13 / 7739 | ||||
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(HPO:0007973) | Retinal dysplasia | 27 / 7739 | ||||
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(OMIM) | Visceral malformations | 2 / 7739 | ||||
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(OMIM) | Limb deformation (rare) | 2 / 7739 | ||||
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(OMIM) | Occipital neural tube defects | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003560) | Muscular dystrophy | 88 / 7739 |