ACROCALLOSAL SYNDROME
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ARTHROGRYPOSIS, DISTAL, TYPE 2A
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ARTHROGRYPOSIS, DISTAL, TYPE 2B
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ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
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BARDET-BIEDL SYNDROME (BBS)
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CARDIOMYOPATHY, DILATED, 1S
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
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CARNEY COMPLEX VARIANT
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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1
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CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (1 FAMILY)
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CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
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DEAFNESS, AUTOSOMAL DOMINANT 11
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DEAFNESS, AUTOSOMAL DOMINANT 22
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DEAFNESS, AUTOSOMAL DOMINANT 4
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DEAFNESS, AUTOSOMAL DOMINANT 48
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DEAFNESS, AUTOSOMAL RECESSIVE 2
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DEAFNESS, AUTOSOMAL RECESSIVE 3
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DEAFNESS, AUTOSOMAL RECESSIVE 37
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DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY
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FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
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LAING DISTAL MYOPATHY
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LEFT VENTRICULAR NONCOMPACTION 5
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LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
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MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL
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MICROVILLUS INCLUSION DISEASE
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RETARDATION
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SPASTIC PARAPLEGIA 10
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SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
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SPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY
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SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE
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SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
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TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, INCLUDED
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USHER SYNDROME, TYPE IB
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USHER SYNDROME, TYPE IB, INCLUDED
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