Preface | Jarind's Letters | Sims'Letters | Genetic Lists | Prevention | Letters of Signs |
Genetic
Lists of Abnormal Genes ( Lists of Sims' Letters) |
Q = Brain,head & central nervous system |
Hydrocephalus
q1 = Anencephaly
( Multifactorial inheritance )
q2 = Ataxia telangiectasia
autosomal recessive
q3 = Behr's Syndrome ( partial Friedreich's ataxia,
short stature,marked mental retardation & cataracts )
q4 = Bony defect here (in Frontal meningocoele)
Multifactorial inheritance
q5 = Cerebromacular degenerations
( Bielschowsky )
autosomal recessive
Q6 = Crouzon's disease
( Craniofacial dysostosis )
( Acrocephaly,hypoplastic maxilla,beaked nose,
protrusion of the lower lip,exophthalmos,exotropia
and hypertelorism )
Q7,q7 = Diffuse cerebral sclerosis
( Pelizaeus-Merzbacher type )
X-linked dominant? or
recessive?
Q8,q8 = Diffuse cerebral sclerosis
(
Sholz type) )
X-linked dominant? or
recessive?
q9 = Epilepsy
( Multifactorial inheritance )
q10 = Familial sudanophilic leukodystrophy
q11 = Franchescetti's Syndrome
( partial Friedreich's ataxia with external ophthalmoplegia )
q12 = Friedreich's ataxia ( Spinocerebellar degeneration )
Q13 = Hereditary Olivopontocerebellar Atrophy autosomal
dominant
q14 = Roussy-Levy Syndrome
( ataxia,pes cavus muscular atrophy )
Q15 = Huntington' s chorea
autosomal dominant
q16 = Hydrocephalus
( Multifactorial inheritance )
Q17 = Hypertelorism
( in 5p-,trisomy18 syndrome )
Q18 = Hypotelorism
( in trisomy13 syndrome )
q19 = Lowe's oculocerebrorenal syndrome
X-linked recessive
q20 = Marinesco-Sjogren Syndrome ( partial Friedreich's ataxia,
short stature,marked mental retardation & cataracts )
Q21 = Microcephaly
( in 5p-,13q-,trisomy13 syndrome )
q21 = Microcephaly
( some types )
X-linked recessive
Q22 = Micrognathia
( in 4p-,Trisomy 8,18 syndrome )
q23 = Neuroaxonal degeneration
(
Seitelberger )
autosomal recessive
q24 = Spongy sclerosis
( Canavan's )
autosomal recessive
q25 = Subacute necrotizing encephalo-myelopathy
( Leigh's )
autosomal recessive
Q26 = Tower skull( Long narrow face &
Pointed head )
autosomal dominant in
Marfan's syndrome
________________
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To Author: |
Dr.Jarind B. Sriraumpuch |
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Update since 10/09/50