Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the cerebrum (HP:0007364)help
Parent Node:
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Abnormal cerebral cortex morphology (HP:0002538)help
Parent Node:
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Cerebral hypoplasia (HP:0006872)help
..Starting node
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Hypoplasia of the frontal lobes (HP:0007333)help
Term ID: 7333
Name: Hypoplasia of the frontal lobes
Synonym: Frontal lobe hypoplasia; Hypoplastic frontal lobes; Underdeveloped frontal lobe
Definition: Underdevelopment of the frontal lobe of the cerebrum.
Comments:
Reference: HP:0007333
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOpen operculum (HP:0100954) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007333HP:0007333Hypoplasia of the frontal lobes0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent3
HP:0007333HP:0007333Hypoplasia of the frontal lobes0ARHGEF9 CL E G H2322914561ORPHA:163985Hyperekplexia-epilepsy syndromeHP:0040282 - Frequent45
HP:0007333HP:0007333Hypoplasia of the frontal lobes0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent512
HP:0007333HP:0007333Hypoplasia of the frontal lobes0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0007333HP:0007333Hypoplasia of the frontal lobes0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent181
HP:0007333HP:0007333Hypoplasia of the frontal lobes0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent6
HP:0007333HP:0007333Hypoplasia of the frontal lobes0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent161
HP:0007333HP:0007333Hypoplasia of the frontal lobes0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent38
HP:0007333HP:0007333Hypoplasia of the frontal lobes0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent146
HP:0007333HP:0007333Hypoplasia of the frontal lobes0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent31
HP:0007333HP:0007333Hypoplasia of the frontal lobes0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent15
HP:0007333HP:0007333Hypoplasia of the frontal lobes0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007333HP:0007333Hypoplasia of the frontal lobes0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0007333HP:0007333Hypoplasia of the frontal lobes0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0007333HP:0007333Hypoplasia of the frontal lobes0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0007333HP:0007333Hypoplasia of the frontal lobes0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0007333HP:0007333Hypoplasia of the frontal lobes0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0007333HP:0007333Hypoplasia of the frontal lobes0KIF14 CL E G H992819181ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent9
HP:0007333HP:0007333Hypoplasia of the frontal lobes0KNL1 CL E G H5708224054ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent112
HP:0007333HP:0007333Hypoplasia of the frontal lobes0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0007333HP:0007333Hypoplasia of the frontal lobes0MCM7 CL E G H41766950ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007333HP:0007333Hypoplasia of the frontal lobes0MCPH1 CL E G H796486954ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent155
HP:0007333HP:0007333Hypoplasia of the frontal lobes0METTL5 CL E G H2908125006ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007333HP:0007333Hypoplasia of the frontal lobes0MFSD2A CL E G H8487925897ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent5
HP:0007333HP:0007333Hypoplasia of the frontal lobes0NCAPD3 CL E G H2331028952ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent1
HP:0007333HP:0007333Hypoplasia of the frontal lobes0PHC1 CL E G H19113182ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent16
HP:0007333HP:0007333Hypoplasia of the frontal lobes0PYCR2 CL E G H2992030262ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent11
HP:0007333HP:0007333Hypoplasia of the frontal lobes0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0007333HP:0007333Hypoplasia of the frontal lobes0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0007333HP:0007333Hypoplasia of the frontal lobes0SASS6 CL E G H16378625403ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent4
HP:0007333HP:0007333Hypoplasia of the frontal lobes0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0007333HP:0007333Hypoplasia of the frontal lobes0STIL CL E G H649110879ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent99
HP:0007333HP:0007333Hypoplasia of the frontal lobes0TAF13 CL E G H688411546ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent2
HP:0007333HP:0007333Hypoplasia of the frontal lobes0TRAPPC10 CL E G H710911868ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent1
HP:0007333HP:0007333Hypoplasia of the frontal lobes0TRAPPC14 CL E G H5526225604ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent
HP:0007333HP:0007333Hypoplasia of the frontal lobes0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0007333HP:0007333Hypoplasia of the frontal lobes0WDR62 CL E G H28440324502ORPHA:2512Autosomal recessive primary microcephalyHP:0040282 - Frequent224


Genes (36) :ANKLE2 ARHGEF9 ASPM BRAF CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CIT COPB2 DHCR7 DPM1 FDXR FIG4 KIF14 KNL1 MBD5 MCM7 MCPH1 METTL5 MFSD2A NCAPD3 PHC1 PYCR2 RNU4ATAC RTTN SASS6 SLC35C1 STIL TAF13 TRAPPC10 TRAPPC14 VAC14 WDR62

Diseases (12) :ORPHA:2512 ORPHA:163985 OMIM:115150 OMIM:270400 ORPHA:79322 ORPHA:543470 OMIM:216340 ORPHA:3472 OMIM:156200 OMIM:210710 ORPHA:468631 ORPHA:99843
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.