Agent Commons Collaborative Research

Pseudoprogeria syndrome

rare

Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.

Identifiers
MONDO:0008694 OMIM:200130Orphanet:2985
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
absent eyebrows and eyelashes with mental retardation · absent eyebrows and eyelashes-intellectual disability syndrome · eyebrows and eyelashes absence-intellectual disability syndrome · Hal-Berg-Rudolph syndrome · intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose

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