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Hypoplasia of the corpus callosum

Known as: Thinning of the corpus callosum, Small corpus callosum, Hypoplasia of corpus callosum 
Underdevelopment of the corpus callosum. [HPO:probinson, pmid:21263138]
National Institutes of Health

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AICARDI-GOUTIERES SYNDROME 3ASPARAGINE SYNTHETASE DEFICIENCYAchondroplasia, Severe, With Developmental Delay And Acanthosis NigricansAdams Oliver syndrome

Papers overview

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2020
2020
Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly
To the Editor: Contactin-associated proteins are a subgroup of the neurexin family of multidomain transmembrane proteins (Traut… 
2016
2016
Novel compound heterozygous mutations of SPG11 gene in sporadic spastic paraplegia with thin corpus callosum
2016
2016
Paraplejía espástica hereditaria ligada al cromosoma X por mutación en el gen L1CAM:: presentación de tres casos del síndrome CRASH
Introduccion. La paraplejia espastica hereditaria (PEH) representa un conjunto de cuadros clinicos neurodegenerativos que se… 
2016
2016
Forensic Pathology and Newborn Screening for Inborn Errors of Metabolism: Implications for the Middle East
We report the postmortem findings of two infants and one child who died in Iraq. In each case, a specific clinical diagnosis was… 
2012
2012
Warburg Micro syndrome
Abstract Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly… 
2012
2012
“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia
Pelizaeus–Merzbacher-like disease (PMLD) is an autosomal recessive leukodystrophy caused by GJC2 gene mutations [1]. Clinical and… 
2004
2004
Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly.
Deletion (14)(q11.2q13.1) is a rare cytogenetic abnormality associated with severe neurological deficit, microcephaly and… 
1997
1997
Transient nonketotic hyperglycinaemia: ultrasound, CT and MRI: case report.
We report a case of transient nonketotic hyperglycinaemia in which radiography correlated closely with clinical and biochemical… 
1990
1990
Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia.
A boy was born at 36 weeks' gestation weighing 2450 g. Though his Apgar score was 9 at birth, by the age of 48 hours he required… 
1975
1975
[Shapiro's syndrome. Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum].