Brain Malformations With Or Without Urinary Tract Defects; Brmutd

Description

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

Clinical Features

Top most frequent phenotypes and symptoms related to Brain Malformations With Or Without Urinary Tract Defects; Brmutd

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Motor delay
  • Muscular hypotonia
  • Abnormal facial shape
  • Cryptorchidism
  • Cognitive impairment
And another 58 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Brain Malformations With Or Without Urinary Tract Defects; Brmutd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTEN, NSD1, GPC3, SETD2, OFD1, CUL4B, RAB39B, MED12, UPF3B, BRWD3, NFIX, EZH2, RNF135, GLI3, KPTN, HERC1, NFIA, RNF125, TBC1D7, HEPACAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTEN, NSD1, GPC3, SETD2, OFD1, CUL4B, RAB39B, MED12, UPF3B, BRWD3, NFIX, EZH2, RNF135, GLI3, KPTN, HERC1, NFIA, RNF125, TBC1D7, HEPACAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NFIA.

By Fulgent Genetics Fulgent Genetics in United States.

NFIA
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Brain Malformations With Or Without Urinary Tract Defects; Brmutd Is also known as ;del(1)(p31p32); monosomy 1p31p32.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH SECKEL SYNDROME HYDROLETHALUS SYNDROME 2; HLS2 IMMUNODEFICIENCY 36; IMD36 ASPARTYLGLUCOSAMINURIA; AGU

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