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Topic: Cataract hypertrichosis mental retardation

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Cataract hypertrichosis mental retardation

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	www.whonamedit.com
		Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies.
		Schinzel's acrocallosal syndrome (Schinzel's syndrome I) A syndrome of mental retardation, peculiar facies, absence of the corpus callosum, and polydactyly.
		A syndrome of mental retardation, peculiar facies, absence of the corpus callosum, and polydactyly.
	www.whonamedit.com /syndlist.cfm/21 (4092 words)

	viewANDmorbid
		Mental retardation- X-linked- syndromic-2- with dysmorphism and cerebral atrophy (2)
		Neuropathy axonal motor-sensory with deafness and mental retardation
		Mental retardation- X-linked- syndromic-6- with gynecomastia and obesity (2)
	www.fortunecity.com /skyscraper/epson/1227/genetics/chromoxy.htm (683 words)

	[No title]
		X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between Xq21.33 and Xq23.
		We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses.
		We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion.
	genetics.rusmedserv.com /add/article_23.html (16406 words)

	SERGG - Neurofibromatosis - Hypertrichosis, Facial Dysmorphia, Pigmentary Retinopathy
		Hypertrichosis terminalis is presumably secondary to general defects in hair growth expression (10).
		Congenital hypertrichosis lanuginosa and congenital hypertrichosis terminalis have both been reported as autosomal dominant disorders with variable manifestations(2).
		Terntamy SA, Sinbaway AHH (1991): Cataract, hypertrichosis and mental retardation (CAHMR): A new autosomal recessive syndrome.
	www.circ.uab.edu /sergg/f95/neuro8.htm (810 words)

	Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor ...
		Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?
		severe mental retardation, and congenital cataract (table 1).
		Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism.
	jmg.bmjjournals.com /cgi/content/full/36/8/637 (1503 words)

	diagnosis - hypertrichosis table
		The first table lists disorders where hypertrichosis is a primary symptom.
		Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth
		Trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of the retina
	www.keratin.com /ab/ab007.shtml (322 words)

	Cataract Hutterite type
		congenital dominant non nuclear cataract congenital ichthyosis cataract congenital volkmann type cataract congenital with microphthalmia cataract deafness hypogonadism cataract hutterite type...
		Cataract Hutterite type: Cataract hypertrichosis mental retardation: Cataract mental retardation hypogonadism
		Cataract congenital autosomal dominant; Cataract congenital dominant non nuclear; Cataract congenital Volkmann type; Cataract congenital with microphthalmia; Cataract dental syndrome; Cataract Hutterite type...
	www.dampffreunde.de /CataractHutteritetype-912 (262 words)

	Birth Disorder Information Directory - CA-CL
		Cantalamessa Baldini Ambrosi Syndrome (Hypogonadism Mitral Valve Prolapse Mental Retardation)
		Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy
		MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD
	www.bdid.com /defectca.htm (705 words)

	Partly Mapped Human Disease Genes
		A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded.
		3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.
		Lissencephaly is a cortical malformation secondary to impaired neuronal migration resulting in mental retardation, epilepsy and motor impairment.
	www.mad-cow.org /00/human_inherited.html (5596 words)

	pSTIING - Search
		Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
		Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
		Cubitus valgus with mental retardation and unusual facies
	pstiing.licr.org /search.jsp?script=a_start_disease&... (546 words)

	Birth Disorder Information Directory - M
		JUVENILE CATARACT, CEREBELLAR ATROPHY, MENTAL RETARDATION, AND MYOPATHY
		Martsolf Syndrome (Cataract with Mental Retardation and Hypogonadism)
		Mohr-Tranebjaerg Syndrome (Dystonia-Deafness Syndrome; Deafness-Dystonia-Optic Atrophy Syndrome; Deafness Syndrome, Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency)
	www.bdid.com /defectm.htm (411 words)

	cataract-hypertrichosis-mental retardation (CAHMR) syndrome (Site not responding. Last check: 2007-10-24)
		A syndrome consisting mainly of cataracts, hypertrichosis, and mental retardation.
		Mouth and oral structures: High narrow palate and microdontia.
		Skin appendages: Low hairline on the back and hypertrichosis.
	www.nlm.nih.gov /mesh/jablonski/syndromes/syndrome091.html (71 words)

	Orthopaedics Syndromes Second Page
		BORK (1987) - ECTODERMAL DYSPLASIA; CATARACT; RETINAL DYSTROPHY
		DE BARSY - CUTIS LAXA; MENTAL RETARDATION; CORNEAL OPACITY
		KINGSTON (1982) - UVEAL COLOBOMA; CLEFTING; MENTAL RETARDATION
	freeortho.com /syndromes2.html (1167 words)

	List of diseases starting with C
		Congenital cystic eye multiple ocular and intracranial anomalies
		Congenital heart disease radio ulnar synostosis mental retardation
		Cutis laxa with joint laxity and retarded development
	www.knowledgefun.com /book/l/li/list_of_diseases_starting_with_c.html (148 words)

	OMIM Update List for March, 2004
		Clinical Synopsis for 312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION
		607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
		300148 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM,
	www.ncbi.nlm.nih.gov /Omim/dispmonthly.cgi?3.2004 (2183 words)

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