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Pseudoprogeria Syndrome (MONDO:0008694)

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.

Overview

Category

Unknown

Ontology ID

MONDO:0008694

Internal:9968

Synonyms

Hal-Berg-Rudolph syndrome

absent eyebrows and eyelashes-intellectual disability syndrome

eyebrows and eyelashes absence-intellectual disability syndrome

pseudoprogeria syndrome

absent eyebrows and eyelashes with intellectual disability

absent eyebrows and eyelashes with mental retardation

intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose

mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose

Mapped terms

GARD:0000415

MEDGEN:163218

MESH:C563111

OMIM:200130

Orphanet:2985

SCTID:733086003

UMLS:C0796125

Child terms

Unknown children.

Results

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