Orphanet: Developmental and speech delay due to SOX5 deficiency

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Developmental and speech delay due to SOX5 deficiency

Disease definition

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

ORPHA:313892

Classification level: Subtype of disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant or Not applicable
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 616803
UMLS: C4749915
MeSH: -
GARD: -
MedDRA: -

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Developmental and speech delay due to SOX5 deficiency

ORPHA:313892

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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