XLMR Slides powerpoint

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Oral-facial-digital I (OFD1)
Syndromal XLMR genes
Autism (NLGN4)
X-linked VACTERL-hydrocephalus (FANCB)
Telecanthus-hypospadias (MID1)
(AP1S2)
Turner, XLMR-hydrocephaly- basal ganglia
calcification
MIDAS (HCCS)
XLMR-infantile seizures, Rett like (STK9)
Coffin-Lowry (RSK2)
Spermine synthase deficiency (SMS)
Nance-Horan (NHS)
Ichthyosis follicularis, atrichia, photophobia
(MBTPS2)
Pyruvate dehydrogenase deficiency (PDHA1)
Partington, West, Proud, XLAG (ARX)
Glycerol kinase deficiency (GKD)
Duchenne muscular dystrophy (DMD)
Norrie (NDP)
Ornithine transcarbamylase deficiency (OTC)
OFCD, Lenz microphthalmia (BCOR)
XMRE (Renin receptor ATP6AP2)
Monoamine oxidase-A deficiency (MAOA)
Turner macrocephaly (HUWE1)
11.23
Goltz (PORCN)
11.22
XLMR-choreoathetosis (HADH2)
X-linked Cornelia de Lange (SMC1L1, SMC1A)
11.21
Epilepsy/macrocephaly (SYN1)
Aarskog (FGDY)
Stocco dos Santos (KIAA1202)
XLMR-cleft lip/palate (PHF8)
XLMR-cerebellar dysgenesis (OPHN-1)
Graham coloboma (IGBP1)
Opitz-Kaveggia FG, Lujan (MED12, HOPA)
Menkes disease (ATP7A)

Phosphoglycerate kinase deficiency (PGK1)
Allan-Herndon (MCT8, SLC16A2)
XLMR-Hypotonic Facies
Cantagrel spastic paraplegia (KIAA2022)
?-thalassemia mental retardation,
Carpenter-Waziri, Holmes-Gang, Chudley Lowry,
Juberg-Marsidi(?), Smith-Fineman-Myers(?)
XLMR-macrocephaly-large ears (BRWD3)
(XNP, XH2)
XLMR-hyperekplexia-seizures (ARHGEF9)
Mohr-Tranebjaerg (DDP, TIMM8A)
XLMR-short stature-muscle wasting (NXF5)
Pelizaeus-Merzbacher (PLP)
Epilepsy-mental retardation limited to females
(PCDH19)
Arts, PRPP synthetase superactivity (PRPS1)
X-linked lissencephaly (DCX)
Mitochondrial encephalopathy (NDUFA1)
XLMR-optic atrophy (AGTR2)
Danon cardiomyopathy (LAMP2)
FG/Lujan phenotype (UPF3B)
XLMR-hypogonadism-tremor (CUL4B)
XLMR-nail dystrophy-seizures (UBE2A)
Chiyonobu XLMR (GRIA3)
Lowe (OCRL1)
XLMR-macrocephaly-Marfanoid habitus (ZDHHC9)
Börjeson-Forssman-Lehmann (PHF6)
Simpson-Golabi-Behmel (GPC3)
XLMR/growth hormone deficiency (SOX3)
Christianson, Angelman-like (SLC9A6)
Lesch-Nyhan (HPRT)
Fragile XA (FMR1)
Mucopolysaccharidosis IIA (IDS)
X-linked hydrocephaly-MASA spectrum (L1CAM)
(FLN1, FLNA)
Myotubular myopathy (MTM1)
Periventricular nodular heterotopia,
Otopalatodigital 1, Otopalatodigital 2,
Melnick-Needles
Adrenoleukodystrophy (ABCD1)
Rett, PPM-X (MECP2)
Incontinentia pigmenti (NEMO, IKBKG)
Autism (RPL10)
Dyskeratosis congenita (DKC1)
Creatine transporter deficiency (SLC6A8)
Greenwood Genetic Center, updated July 2009
XLMR-hypotonia-recurrent infections (MECP2 dup)