Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
14q21.1
NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610397.1 | United Arab Emirates | Female | No | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability  | NM_001079537.2:c.267+1G>A | Homozygous | Autosomal, Recessive | Mahfouz et al. 2020 | |
| 617862.1.1 | Lebanon | Male | No | Yes | Microcephaly; Intellectual disability; H... Microcephaly; Intellectual disability; Hypotonia; Lactic acidosis; Hypoplasia of the corpus callosum; Periventricular leukomalacia | NM_001079537.2:c.23T>A | Homozygous | Autosomal, Recessive | Nair et al, 2019b | Proband |
| 617862.2.1 | Egypt | Unknown | Yes | Yes | Delayed ability to walk; Delayed fine mo... Delayed ability to walk; Delayed fine motor development; Absent speech; Impaired social interactions; Hyperactivity; Recurrent hand flapping; Hand tremor; Nystagmus; Hypotonia; Seizure; Strabismus | NM_001079537.1:c.150-2A>G | Homozygous | Autosomal, Recessive | Marin-Valencia et al. 2018 | Patient is from Beni... |
| 617862.2.2 | Egypt | Unknown | Yes | Yes | Delayed ability to walk with support; De... Delayed ability to walk with support; Delayed fine motor development; Absent speech; Impaired social interactions; Hyperactivity; Recurrent hand flapping; Hypotonia; Seizure | NM_001079537.1:c.150-2A>G | Homozygous | Autosomal, Recessive | Marin-Valencia et al. 2018 | Relative of 617862.2... |
| 617862.3.1 | Egypt | Unknown | Yes | Yes | Delayed ability to walk; Delayed fine mo... Delayed ability to walk; Delayed fine motor development; Delayed speech and language development; Impaired social interactions; Hyperactivity; Recurrent hand flapping; Developmental regression; Hypotonia; Seizure; Dysphagia | NM_001079537.1:c.150-2A>G | Homozygous | Autosomal, Recessive | Marin-Valencia et al. 2018 | Patient is from Qaly... |
| 617862.3.2 | Egypt | Unknown | Yes | Yes | Delayed ability to walk; Delayed fine mo... Delayed ability to walk; Delayed fine motor development; Delayed speech and language development; Impaired social interactions; Hyperactivity; Recurrent hand flapping; Developmental regression; Hypotonia; Seizure | NM_001079537.1:c.150-2A>G | Homozygous | Autosomal, Recessive | Marin-Valencia et al. 2018 | Relative of 617862.3... |
| 617862.4.1 | Egypt | Unknown | Yes | Yes | Delayed ability to walk; Delayed fine mo... Delayed ability to walk; Delayed fine motor development; Delayed speech and language development; Impaired social interactions; Hyperactivity; Recurrent hand flapping; Nystagmus; Hypotonia; Seizure; Strabismus; Recurrent fractures | NM_001079537.1:c.150-2A>G | Homozygous | Autosomal, Recessive | Marin-Valencia et al. 2018 | Patient is from Shar... |
| 617862.4.2 | Egypt | Unknown | Yes | Yes | Inability to walk; Delayed fine motor de... Inability to walk; Delayed fine motor development; Absent speech; Impaired social interactions; Recurrent hand flapping; Nystagmus; Hypotonia; Strabismus | NM_001079537.1:c.150-2A>G | Homozygous | Autosomal, Recessive | Marin-Valencia et al. 2018 | Relative of 617862.4... |