A: The variant NC_000020.11:g.36606026G>A in gene RAB5IF is classified as 'Pathogenic/Likely_pathogenic' for Hypertelorism|Intellectual_disability|Scoliosis|Bifid_ribs|Flat_face|Micrognathia|Bilateral_cleft_lip_and_palate|Rib_fusion|Abnormality_of_the_vertebral_column|Macrocephaly|Craniofacial_dysmorphism,_skeletal_anomalies,_and_impaired_intellectual_development_syndrome_2|Craniofacial_dysmorphism,_skeletal_anomalies,_and_impaired_intellectual_development_1. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439|Human_Phenotype_Ontology:HP:0000892,MedGen:C4721788|Human_Phenotype_Ontology:HP:0012368,MedGen:C1853241|Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990|Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522|Human_Phenotype_Ontology:HP:0000880,Human_Phenotype_Ontology:HP:0000902,MedGen:C0265695|Human_Phenotype_Ontology:HP:0000925,MedGen:C4021789|Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051|MONDO:MONDO:0859567,MedGen:C5676895,OMIM:616994|MONDO:MONDO:0800436,MedGen:C5677021,OMIM:213980,Orphanet:1394. Review status: no assertion criteria provided.