X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Orpha code: 85320OMIM code:

Definition

An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.

Disease data
Classification

Malformation syndrome

Synonyms
Johnson syndrome
Zespół Johnsona
ORPHA code
85320
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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