Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Orpha code: 2234OMIM code: 307500

Definition

This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

Disease data

Classification

Malformation syndrome

Synonyms

Sohval-Soffer syndrome

Zespół Sohval i Soffer

ORPHA code

2234

OMIM code

307500

ICD10 code

Q87.8

ICD11 code

*Soruce

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Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Description of the disease *

Extended description of the disease