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 2 ID (Ontology) DOID:0081125 (Human Disease)
Definition A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11.
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 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2       1
 for disease ribbon | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2       1
 model of | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2       1
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   |__craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
       |__craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2  1 rec.
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MIM:616994