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Summary
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS MRFACD (MED13L)
616789
OMIM = Online Medalian Inheritance of Men
369891
12q24.21
rare
autosomal dominant
mutation in the MED13L gene
symptoms
ataxia
behavior, autism or autistic-like
brachycephaly
clubfoot
congenital heart defect
craniostenosis
cryptorchism
dysmorphism
hypertelorism
hypotonia
infections (severe or recurrent)
intellectual disability/intellectual developmental disorder (ID/ IDD)
macroglossia, large/protuding tongue
mental retardation
onset, childhood
onset, infancy
psychomotor retardation
seizures
speech development, delayed, abnormal
strabismus
laboratory finding
MRI, brain, abnormalities -
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Haglind CB,et al.Erratum to: increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fastJ Inherit Metab Dis3823772015
Sequeira S,et al.MEGDEL Syndrome: Expanding the Phenotype and New MutationsNeuropediatrics485382-3842017
Saunders C.et al.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaAm J Hum Genet962258-2652015
Macchiaiolo M,et al.A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencingItal J Pediatr431652017
Anna T,et al.White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin BrotherJIMD Rep350105-1152017
Miyajima HAceruloplasminemiaGeneReviews-« Internet002015
Ferreira CRPrevalence of adenylosuccinate lyase deficiency based on aggregated exome dataMol Genet Metab Rep10081-822017
Therrell BL,et al.Newborn screening for hyperargininemia due to arginase 1 deficiencyMol Genet Metab1214308-3132017
Rojek A,et al.X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 GenesInt J Endocrinol201602016
Kanabus M,et al.Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregationJ Inherit Metab Dis382211-2192015
Gupta N,et al.Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian PatientsJIMD Rep2101292015
Yamamoto T,et al.Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from JapanBrain Dev395422-4252017