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All: 22 
OMIM dbSNP: 2 
OMIM UniSTS: 3 
Items 1 - 20 of 22
 
 of 2
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1: 236600 Links
HYDROCEPHALUS
2: %602200 Links
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
3: 219730 Links
CYSTIC KIDNEY DISEASE WITH VENTRICULOMEGALY
4: #608836 GeneTests, Links
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Gene map locus 1p32
5: 601170 Links
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
6: %269150 Links
SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME
7: #117550 GeneTests, Links
SOTOS SYNDROME
Gene map locus 5q35
8: #101200 GeneTests, Links
APERT SYNDROME
APERT-CROUZON DISEASE, INCLUDED
Gene map locus 10q26
9: 602613 Links
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL
10: #309000 GeneTests, Links
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
Gene map locus Xq26.1
11: #302960 GeneTests, Links
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
Gene map locus Xp11.23-p11.22
12: #236670 GeneTests, Links
WALKER-WARBURG SYNDROME
MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION, INCLUDED
Gene map locus 19q13.3, 14q24.3, 9q34.1, 9q31
13: %235255 Links
MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY
14: %145410 Links
HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
Gene map locus 22q11.2
15: #242650 GeneTests, Links
PRIMARY CILIARY DYSKINESIA; PCD
CILIARY DYSKINESIA, PRIMARY, 1, INCLUDED; CILD1, INCLUDED
Gene map locus 9p21-p13
16: #312170 GeneTests, Links
PYRUVATE DECARBOXYLASE DEFICIENCY
LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED
Gene map locus Xp22.2-p22.1
17: *300205 GeneTests, Links
EMOPAMIL-BINDING PROTEIN; EBP
Gene map locus Xp11.23-p11.22
18: #276950 Links
VACTERL ASSOCIATION WITH HYDROCEPHALUS
VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED
Gene map locus 10q23.31
19: +274270 GeneTests, Links
DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD
THYMINE-URACILURIA, HEREDITARY, INCLUDED
Gene map locus 1p22
20: 273390 Links
TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES
Items 1 - 20 of 22
 
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Jun 21 2006 12:14:26