Early-onset parkinsonism-intellectual disability syndrome

Orpha code: 2379OMIM code: 311510

Definition

A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.

Disease data
Classification

Disease

Synonyms
Laxova-Opitz syndrome
Zespół Laxova i Opitza
Zespół Waismana
Waisman syndrome
ORPHA code
2379
OMIM code
311510
ICD10 code
G20
ICD11 code
LD90.1

No additional description.

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