craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome

Term ID

DOID:0081072

Synonyms

Cerebro-facio-thoracic dysplasia
Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome
TMCO1 defect syndrome

Definition

A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (4)

References

GARD:1210
OMIM:PS213980
ORDO:1394

Ontology

Human Disease ( DOID:0081072 )

Relationships

is a type of: syndrome

syndrome Show first 5 Terms
has subtype: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2

craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations