FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 ID (Ontology) DOID:0081124 (Human Disease)
Definition A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24.
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 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1       1
 for disease ribbon | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1       1
 model of | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1       1
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autosomal genetic disease
 |__autosomal recessive disease____________________________________________________
syndrome                                                                           |
 |__craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome__|
                                                                                   craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1  1 rec.
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Is a autosomal recessive disease
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
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MIM:213980