AORTIC ANEURYSM, FAMILIAL THORACIC 7
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BREAST CANCER, SUSCEPTIBILITY TO
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CARDIOFACIOCUTANEOUS SYNDROME 3
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CARDIOFACIOCUTANEOUS SYNDROME 4
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CEREBRAL INFARCTION, SUSCEPTIBILITY TO
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COFFIN-LOWRY SYNDROME
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COFFIN-LOWRY SYNDROME, MILD
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CROUZON SYNDROME
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DIABETES MELLITUS, TYPE II
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ENDOCRINE-CEREBROOSTEODYSPLASIA
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
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FG SYNDROME 4
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GLYCOGEN STORAGE DISEASE IXC
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HARTSFIELD SYNDROME
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HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
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HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
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HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
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HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
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HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
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IRAK4 DEFICIENCY
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LADD SYNDROME
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MALFORMATIONS
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MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
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MELANOMA, MALIGNANT, SOMATIC
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MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
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MENTAL RETARDATION, X-LINKED 19
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MENTAL RETARDATION, X-LINKED 30
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MENTAL RETARDATION, X-LINKED, WITH NYSTAGMUS
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NEPHRONOPHTHISIS 9 (NPHP9)
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OGUCHI DISEASE 2
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PEUTZ-JEGHERS SYNDROME
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PFEIFFER SYNDROME
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RETINITIS PIGMENTOSA 62
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RETINITIS PIGMENTOSA 62 (RP62)
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SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED
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SHORT RIB-POLYDACTYLY SYNDROME 2A (SRPS2A)
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SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
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SPERMATOGENIC FAILURE 5
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SPINOCEREBELLAR ATAXIA 14
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T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC
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TESTICULAR TUMOR, SOMATIC
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TO
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