AGNATHIA-OTOCEPHALY COMPLEX
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ANIRIDIA
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ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
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AXENFELD-RIEGER SYNDROME, TYPE 1
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BRACHYDACTYLY, TYPE D, INCLUDED
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BRACHYDACTYLY, TYPE E
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BRANCHIOOTIC SYNDROME 3
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CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, INCLUDED
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CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR
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COLOBOMA OF OPTIC NERVE
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COLOBOMA, OCULAR, INCLUDED
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CONE-ROD DYSTROPHY 2
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CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
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CRANIOSYNOSTOSIS 2
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CURRARINO SYNDROME
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DEAFNESS, AUTOSOMAL DOMINANT 15
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DIABETES MELLITUS, INSULIN-DEPENDENT, 20
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DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
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DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO, INCLUDED
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
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FACIAL PARESIS, HEREDITARY CONGENITAL, 3
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FRONTONASAL DYSPLASIA 1
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FRONTONASAL DYSPLASIA 2
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GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
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HAMAMY SYNDROME
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HAND-FOOT-GENITAL SYNDROME
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HOLOPROSENCEPHALY 2
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HYDRANENCEPHALY WITH ABNORMAL GENITALIA
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KERATOCONUS 1
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KLIPPEL-FEIL SYNDROME 2
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LANGER MESOMELIC DYSPLASIA
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LANGER MESOMELIC DYSPLASIA, INCLUDED
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LEBER CONGENITAL AMAUROSIS 7
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LERI-WEILL DYSCHONDROSTEOSIS
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LERI-WEILL DYSCHONDROSTEOSIS, INCLUDED
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LISSENCEPHALY, X-LINKED, 2
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MICROPHTHALMIA, ISOLATED 3
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MICROPHTHALMIA, ISOLATED, WITH CATARACT 2
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MICROPHTHALMIA, SYNDROMIC 11
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MICROPHTHALMIA, SYNDROMIC 5
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MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (1 FAMILY)
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MIRROR-IMAGE POLYDACTYLY
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MOWAT-WILSON SYNDROME
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NAIL-PATELLA SYNDROME
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NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE
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NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
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PANCREATIC AGENESIS
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PARIETAL FORAMINA 1
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PARIETAL FORAMINA 2
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PITUITARY HORMONE DEFICIENCY, COMBINED, 1
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PITUITARY HORMONE DEFICIENCY, COMBINED, 2
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PITUITARY HORMONE DEFICIENCY, COMBINED, 3
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PITUITARY HORMONE DEFICIENCY, COMBINED, 4
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PREMATURE OVARIAN FAILURE 5
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RECESSIVE (1 FAMILY)
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RENAL CYSTS AND DIABETES SYNDROME
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SEPTOOPTIC DYSPLASIA
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SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL
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SYNDACTYLY, TYPE V
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SYNPOLYDACTYLY 1
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TOOTH AGENESIS, SELECTIVE, 1
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VERTICAL TALUS, CONGENITAL
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WITKOP SYNDROME
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