<unk>  (Zinc finger<unk> -type) is a protein-coding gene located on the X-chromosome. This gene encodes a protein which is a member of the so-called zinc finger domain-containing protein family. There is currently very limited understanding about the<unk>  gene and its protein function. Any pathogenic variant of<unk>  which is associated with a clinical phenotype is referred to as<unk> ". The limited research published to date indicates that<unk>  is expressed at various developmental stages and is subject to X-inactivation in females. There are a few families and singletons (males and females) with pathogenic variants of<unk>  described in the medical literature. In the families the variants can be transmitted as an X-linked recessive trait, which means that the disorder is fully expressed predominantly in males, while their carrier female siblings are unaffected or much less severely affected. In contrast to these females, heterozygous de novo variants in<unk>  in singleton females can result in a specific phenotype. It is believed that the pathogenic variants of<unk>  may result in impairment of the central and peripheral nervous system through the impairment of neurologic development and/or synaptic plasticity. Studies in zebrafish showed that the homologue of human<unk>  is associated with the generation of a specific subset of central nervous system interneurons. Besides the cases described in the current literature, an additional 46 diagnosed cases of males and females with<unk>  are known worldwide, constituting this an ultra-rare orphan disorder.
ZC4H2 deficiency
WNT4 deficiency
DOCK8 deficiency
Janus kinase 3 deficiency
NGLY1 deficiency
PMM2 deficiency
GATA2 deficiency
ZAP70 deficiency