Intellectual disability facial dysmorphism skeletal anomalies syndrome

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Subtype of: Intellectual disability with facial dysmorphism
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Bptf-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
686482
BPTF Unknown
33522091
Orphanet
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Intellectual disability facial dysmorphism skeletal anomalies syndrome.
5 View disease cluster →
Developmental and speech delay, postnatal microcephaly, and dysmorphic features 1 shared geneBPTF Related via 1 shared gene including BPTF. Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 shared geneBPTF Related via 1 shared gene including BPTF. 17q24.2 microdeletion syndrome 1 shared geneBPTF Related via 1 shared gene including BPTF. Syndromic intellectual disability 1 shared geneBPTF Related via 1 shared gene including BPTF. Endometrial neoplasms 1 shared geneBPTF Related via 1 shared gene including BPTF.