Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies(NEDMABA) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SMPD4/55627 | sphingomyelin phosphodiesterase 4 | 2q21.1 | Chr2, NC_000002.12 (130151392..130181757, complement) |
30366 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities