ZNF335 gene related symptoms and diseases

All the information presented here about the ZNF335 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZNF335 gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Gliosis Very Common - Between 80% and 100% cases
Abnormality of the cerebral cortex Very Common - Between 80% and 100% cases
Abnormality of the cerebrum Very Common - Between 80% and 100% cases
Small cerebral cortex Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZNF335 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Profound global developmental delay
  • Cortical gyral simplification
  • Choanal atresia
  • Sloping forehead
  • Neuronal loss in central nervous system
  • Delayed myelination
  • Brain atrophy
  • Abnormal cerebellum morphology

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ZNF335 gene

Here you will find a list of rare diseases related to the ZNF335. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Alternate names

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Description

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

Most common symptoms of MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for ZNF335 gene

Autosomal Recessive Primary Microcephaly Tier 2 panel Panel

United States.

By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF

More info about this panel

Microcephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT

More info about this panel

Microcephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18

More info about this panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Microcephaly Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Microcephaly that also includes the following genes: STIL ZNF335 CENPJ CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Germany.

By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Germany.

By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

ZNF335 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZNF335 gene.

More info about this panel


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