0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
14PubMed Papers
19Diseases
0Drugs
9Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
cell adhesionsynapse organizationplasma membranecell adhesion molecule bindingneurodevelopmental disorder with poor growth and skeletal anomaliescomplex neurodevelopmental disordergenetic disorderatrial flutter
AI summary not yet available. Showing NCBI Gene summary.
protocadherin gamma subfamily C, 4
β Limited data available β This gene has 0 indexed publications. Summary and analysis may be incomplete.
neurodevelopmental disorder with poor growth and skeletal anomaliesOpen Targets
complex neurodevelopmental disorderOpen Targets
genetic disorderOpen Targets
atrial flutterOpen Targets
atrial fibrillationOpen Targets
Down syndromeOpen Targets
ataxia telangiectasiaOpen Targets
Neurodevelopmental disorderOpen Targets
colorectal carcinomaOpen Targets
kidney cancerOpen Targets
Intellectual disabilityOpen Targets
Global developmental delayOpen Targets
Neurodevelopmental delayOpen Targets
Neurodevelopmental disorder with poor growth and skeletal anomaliesUniProt
NM_018928.3(PCDHGC4):c.549del (p.Lys184fs)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β
βββ2024β Residue 184
NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β
βββ2022β Residue 228
NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β
βββ2022β Residue 714
NM_018928.3(PCDHGC4):c.1369C>T (p.Gln457Ter)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β
ββββ Residue 457
NM_018928.3(PCDHGC4):c.194_195del (p.Gln65fs)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β
ββββ Residue 65
NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
ββββ2022β Residue 483
NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
ββββ2022β Residue 40
NM_018928.3(PCDHGC4):c.324del (p.Phe108fs)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
ββββ2022β Residue 108
NM_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
ββββ2022β Residue 415