Infantile hypotonia with psychomotor retardation and characteristic facies-3 (IHPRF3)

[anna-anagnostop]

Please consider adding new DO term:

DO TERM NAME: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3

SUGGESTED DEF: a severe autosomal recessive neurodevelopmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene (616899) on chromosome 4q24.

SYN: IHPRF3

PubMed IDs: PMID:30103036, PMID:27040691, PMID:27040692

OMIM #: 616900

Thank you,

Anna V. Anagnostopoulos https://orcid.org/0000-0002-6490-7723

[csbjohnson]

Hi @anna-anagnostop,

Thank you for your request. I've added infantile hypotonia with psychomotor retardation and characteristic facies-3 (IHPRF3) to the Disease Ontology. You can expect to see this addition reflected in the next release.

Best, Claudia Marie Sánchez-Beato Johnson

[anna-anagnostop]

Thanks so much for adding this term to the DO.

[csbjohnson]

You're most welcome! If you have any further requests, please don't hesitate to let us know. Happy to help!