Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 (CFSMR1)

Alias:

Cerebrofaciothoracic Dysplasia

Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome

Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development 1

Cerebro-Facio-Thoracic Dysplasia

Tmco1 Defect Syndrome

Pascual-Castroviejo Syndrome Type 1

Cerebro Facio Thoracic Dysplasia

Pascual-Castroviejo Syndrome

Cfsmr1

Cfsmr

Craniofacial Dysmorphism, Skeletal Anomalies and Impaired Intellectual Development Syndrome 1

Dysmorphism, Craniofacial, Skeletal Anomalies, and Mental Retardation Syndrome

Pascual Castroviejo Syndrome

Cftd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1, also known as cerebrofaciothoracic dysplasia, is related to craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 and hypertelorism. An important gene associated with Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 is TMCO1 (Transmembrane And Coiled-Coil Domains 1). Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and short neck

Related ID：

MALACARDS：CRN327

OMIM：213980

MESH：D008607