New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria.
about
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition.Syndromes with lissencephaly.Syndromic XLMR genes (MRXS): update 2000.Cortical malformations and epilepsy.XLMR genes: update 1996.X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome.Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
P2860
Q24517924-FB569AF7-26FA-4415-86A9-01FA6EEE9001Q33676053-F8730FA4-23BF-47C2-AE5E-84F48D5B4238Q33677235-59FB06F4-A97F-49B2-BBD3-3D75F8C03D7DQ34069962-05D75BAB-4D48-4226-9F4D-A4298A95DDEFQ34099221-DF83D327-0372-4F51-88B5-F1540A00416AQ41127106-1F42FCE2-A4EC-4BE7-A030-5AE7CDCFC92BQ52200613-2CF2157E-114D-429B-92C1-F1E7CED1C3A3Q54987240-83B189BB-2431-4CE1-B9FF-1A0B0B7C28A6
P2860
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
New XLMR syndrome with charact ...... ital hypotonia and pachygyria.
@en
type
label
New XLMR syndrome with charact ...... ital hypotonia and pachygyria.
@en
prefLabel
New XLMR syndrome with charact ...... ital hypotonia and pachygyria.
@en
P2093
P356
P1476
New XLMR syndrome with charact ...... ital hypotonia and pachygyria.
@en
P2093
P304
P356
10.1002/AJMG.1320430168
P577
1992-04-01T00:00:00Z