The presentation of MA is highly variable: it may be associated with other neurological diseases; clinically presents on a spectrum from asymptomatic to seizures or focal deficits; radiologically presents with multifocal, tumor-like, or cystic lesions [pubfacts.com]

We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. [worldwidescience.org]

Human genomes (the complete set of genes or genetic material present in a cell or organism) consist of 3 million DNA base pairs. They contain both protein-coding DNA genes and noncoding DNA. [dna.universeofatoms.com]

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: HGNC,ORPHANET,NCBIGENE,OMIM. [mendelian.co]

• Pallister-Hall Syndrome

  Optic Atrophy, Hereditary, Leber ND4 Oral Ulcer EDN1 Orofacial Cleft 5 MSX1 Orofaciodigital Syndromes C2CD3 Osler-Rendu-Weber Syndrome 2 ACVRL1 Osteoglophonic Dwarfism FGFR1 Osteoporosis ENO1 Ovarian Cysts IHH Ovarian Epithelial Cancer TP53 Pain EDN1 Pallister-Hall [selfdecode.com]

  Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia PMM2-CDG Pachydermoperiostosis Pachygyria-intellectual disability-epilepsy syndrome Pacman dysplasia Pai syndrome Pallister-Hall [se-atlas.de]

  A1 and B Sanger Sequencing of the GLI3 gene Polydactyly, preaxial type II Sanger Sequencing of the LMBR1 gene Polydactyly, preaxial, type IV Sanger Sequencing of the GLI3 gene Polydactyly-Syndactyly-Triphalangism group: Greig cephalopolysyndactyly; Pallister-Hall [pentacorelab.hu]

  […] congenita 1,167200 KRT17 Pachyonychia congenita 2,167210 KRT6A Pachyonychia congenita 3,167200 KRT6B Pachyonychia congenita Jackson-Lawler type,615726 TNFRSF11B Paget disease of bone 5, juvenile-onset,239000 SQSTM1 Paget disease of bone, 602080 GLI3 Pallister-Hall [gsdseq.ir]

  […] syndrome 1 253310 603371 Autosomal recessive GLI2 2q14.2 Holoprosencephaly 9 610829 165230 Autosomal dominant GLI2 2q14.2 Culler-Jones syndrome 615849 165230 Autosomal dominant GLI3 7p14.1 {Hypothalamic hamartomas, somatic} 241800 165240 GLI3 7p14.1 Pallister-Hall [mnglabs.com]

• Fatigue

  Dyschromatosis Symmetrica Hereditaria 1 ADAR Dyslipidemias APOB Emphysema TP53 Epilepsy GRIN2B Erythrokeratodermia Variabilis GJB3 Eye Diseases RPGRIP1L Familial Dilated Cardiomyopathy TTN Familial Wilms Tumor 2 H19 Fanconi Anemia, Complementation Group N PALB2 Fatigue [selfdecode.com]

• Febrile Seizures

  seizures plus, type 5, susceptibility to} 613060 137163 Autosomal dominant GABRG2 5q34 Epilepsy, generalized, with febrile seizures plus, type 3 611277 137164 Autosomal dominant GABRG2 5q34 Febrile seizures, familial, 8 611277 137164 Autosomal dominant [mnglabs.com]

  seizures, familial, 3A, 604403 SCN9A Febrile seizures,familial,3B,613863 GPR98 Febrile seizures, familial, 4, 604352 GABRG2 Febrile seizures,familial,8,611277 CPA6 Febrile seizures,familial,11,614418 MYH9 Fechtner syndrome,153640 MYCN Feingold syndrome [gsdseq.ir]

  seizures plus, type 3 Sanger Sequencing of the SCN1A gene Epilepsy, generalized, with febrile seizures plus, type 3 Sanger Sequencing of the GABRG2 gene Epilepsy, generalized, with febrile seizures plus, type 7 Sanger Sequencing of the SCN9A gene Epilepsy [pentacorelab.hu]

  seizures plus [GEFS ] (ADGRV1, CPA6, GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B)Pan143Craneosinostosis ligado al FGFR y su diagnóstico diferencial [incl. síndrome de Pfeiffer, síndrome de Apert, síndrome de Crouzon, síndrome de Beare-Stevenson, sinostosis [bredagenetics.com]

  Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3) GABRG2 G:137164. Febrile seizures, familial, 8, 611277 (3) GABRG2 G:137164. {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3) GABRG3 G:600233. . GABRP G:602729. . [usegalaxy.org]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

Individuals with RSS respond favorably to growth hormone treatment. Children with RSS that are treated with growth hormone before puberty may achieve several inches of additional height. [en.wikipedia.org]

Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments. [pubfacts.com]

PMID: 21857152 Prognosis Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S Ann Saudi Med 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391. [ncbi.nlm.nih.gov]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology Alrayes N, Mohamoud HS, Ahmed S, Almramhi MM, Shuaib TM, Wang J, Al-Aama JY, Everett K, Nasir J, Jelani M J Neurol Sci 2016 Apr 15;363:240-4. Epub 2016 Mar 2 doi: 10.1016/j.jns.2016.02.063. PMID: 27000257 Brain Dev 2014 Apr;36(4):351-5. [ncbi.nlm.nih.gov]

To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. [worldwidescience.org]

Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. [pubfacts.com]

Walsh type Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for ZNF335 Genetic Association Database (GAD) ZNF335 Human Genome Epidemiology (HuGE) Navigator ZNF335 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ZNF335 No data available for Genatlas for ZNF335 Gene Identification [genecards.org]

Read More Meningioangiomatosis: A review of the variable manifestations and complex pathophysiology. J Neurol Sci 2018 Sep 24;392:130-136. Epub 2018 Jul 24. [pubfacts.com]

Despite the recent identification of six genes involved in microlissencephaly, the pathophysiological basis of this condition remains poorly understood. [worldwidescience.org]