Home > Our Research Activities > Calls for collaboration > Deep phenotyping of FLVCR1-related neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (NEDMISH) and retinopathy-sensory neuropathy syndrome (RETSNS)

Deep phenotyping of FLVCR1-related neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (NEDMISH) and retinopathy-sensory neuropathy syndrome (RETSNS)

Closed

Gene/phenotype/disorder of interest

FLVCR1 (OMIM # 621060, 609033)

Abstract

We recently identified severe neurodevelopmental disorders as part of the FLVCR1 allelic series (Calame et al., Genet. Med. 2025). The severe end of the spectrum includes neonatal demise or stillbirth with multiple congenital anomalies; the mild end consists of adult-onset sensory neuropathies, ataxia, and/or retinitis pigmentosa. We seek to further characterize the phenotypic spectrum of FLVCR1-related disorders with an emphasis on emerging non-neurological features, e.g., gastroparesis, hematologic and immune dysfunction.

Coordinating clinician

Daniel Calame; Daniel.calame@bcm.edu

Institution

Section of Pediatric Neurology & Developmental Neurosciences, Department of Pediatrics, Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA

Specific requirements beyond clinical data and genotype data sharing

  1. Re-analysis of DNA samples: N
  2. Resampling of patients: N
  3. Linked to a translational/basic research project? Y