Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Fez family zinc finger 1
Synonyms:
Zfp312-like,  Fez,  3110069A13Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fezf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fezf1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Kallmann Syndrome
Tremor, Anosmia, Hyposmia ORPHA:478

The table below shows human diseases predicted to be associated to Fezf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ... OMIM:300067
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Partial agene... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Trehalase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:103909
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... OMIM:611603
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Optic atrophy, Type II lissencephaly, Occipital... ORPHA:352682
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Vomiting, Abdominal pain ORPHA:313906
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Colonic Atresia
Abdominal distention OMIM:303650
Intestinal Dysmotility Syndrome
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... OMIM:620045
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea ORPHA:103907
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... ORPHA:2924
Periventricular Nodular Heterotopia 7
Optic atrophy, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Primary Peritoneal Carcinoma
Abdominal distention, Nausea and vomiting, Constipation, Abdominal pain ORPHA:168829
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abdominal distention, Death in infancy, Feeding difficulties, Hepatic failure OMIM:618528
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Subcortical band he... OMIM:615191
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseudo-obstruction, ... OMIM:613662
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Diarrhea 12, With Microvillus Atrophy
Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition OMIM:619445
Meckel Syndrome, Type 8
Encephalocele, Short nose, Abdominal distention, Depressed nasal ridge OMIM:613885
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Par... ORPHA:101030
Cap Polyposis
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia ORPHA:160148
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Atresia Of Small Intestine
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Lissencephaly 6 With Microcephaly
Bulbous nose, Periventricular heterotopia, Polymicrogyria, Partial agenesis of the corpus callosu... OMIM:616212
Puerto Rican Infant Hypotonia Syndrome
Constipation, Chronic constipation, Abdominal distention, Prominent nasal bridge OMIM:600096
Congenital Hydrocephalus
Hydrocephalus, Bulbous nose, Abnormal cortical gyration, Optic atrophy, Lissencephaly, Colpocephaly ORPHA:2185
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Bulbous nose, Gray matter heterotopia, Communicating hydrocephalus, Optic atrophy, Lissencephaly,... OMIM:615219
Acrocephalopolydactyly
Short nose, Protuberant abdomen, Depressed nasal ridge ORPHA:221054
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Death in infancy, Protuberant abdomen OMIM:277300
Thyroid Hemiagenesis
Abdominal distention, Constipation ORPHA:95719
Inflammatory Pseudotumor Of The Liver
Nausea, Abdominal distention, Vomiting, Abdominal pain ORPHA:90003
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Qazi-Markouizos Syndrome
Torticollis, Abdominal distention, Chronic constipation, Prominent nasal bridge ORPHA:3010
Congenital Short Bowel Syndrome
Abdominal distention, Projectile vomiting, Abnormal peristalsis, Vomiting, Decreased intestinal t... OMIM:615237
Glucose/Galactose Malabsorption
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Neonatal death, Polymicrogyria OMIM:619602
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth OMIM:600972
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Decreased sensory nerve conduction velocity, Abdominal pain, Abdominal d... ORPHA:298
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent infection of the gastrointestinal tract, Abdominal distention, Abdominal pain, Allodyni... ORPHA:51890
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lateral ventricle dilatation... ORPHA:300573
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Wide nose, Abnormality of neuronal migration, Microlissencephaly, Agenes... ORPHA:89844
Folinic Acid-Responsive Seizures
Optic atrophy, Abdominal distention, Dystonia ORPHA:79097
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Constipation, Depressed nasal bridge, Feeding difficulties in infancy, Prot... ORPHA:226313
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal distention, Malnutrition, Abdominal pain OMIM:277320
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele, Abnormal optic disc morphology ORPHA:65
Achondrogenesis Type 1A
Anteverted nares, Short nose, Abdominal distention ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Dysplastic corpus callosum, Abdominal distention, Death in infancy OMIM:619423
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration, Short nose, Choanal atresia, Anteverted nares ORPHA:1895
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain ORPHA:168816
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Broad nasal tip, Periventricular nodular heterotopia, Bifid nose, Bifid ... OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Optic nerve dysplasia, Type II lissencephaly... OMIM:615287
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft ala nasi, Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Neonatal death, Death in infancy OMIM:608104
Hemimegalencephaly
Gray matter heterotopia, Polymicrogyria, Optic atrophy, Abnormal neuron morphology, Pachygyria ORPHA:99802
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Permanent Congenital Hypothyroidism
Abdominal distention, Constipation, Feeding difficulties ORPHA:226292
Malignant Peritoneal Mesothelioma
Ileus, Abdominal distention, Abdominal pain ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure ORPHA:75233
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Agenesis of corpus callos... OMIM:207950
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Episodic vomiting, Nausea ORPHA:100924
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormal nasal bridge morphology, Abnormality of neuronal migration OMIM:614887
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Secondary Short Bowel Syndrome
Constipation, Enterocolitis, Abdominal distention, Small intestinal dysmotility, Diarrhea, Vomiti... ORPHA:95427
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Abdominal distention, Vomiting, Feeding difficulties in infancy OMIM:300048
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Abnormality of neuronal migration, Ence... ORPHA:93274
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Pachygyria, Gray matter heterotopia ORPHA:370980
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Liver Failure, Infantile, Transient
Abdominal distention, Acute hepatic failure, Vomiting, Feeding difficulties in infancy, Death in ... OMIM:613070
Fibrochondrogenesis 2
Anteverted nares, Short nose, Protuberant abdomen OMIM:614524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Pachygyria, Optic nerve hypoplasia, Polymicrogyria, Parti... OMIM:614643
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Visceral Myopathy 1
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Vomiting, Malnutrition, Dysphagia, ... OMIM:155310
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Abdominal distention, Choanal atresia, Optic disc coloboma OMIM:270420
Ovarian Fibroma
Abdominal distention, Abdominal pain ORPHA:314473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Facial palsy, Pachygyria OMIM:608840
Achondrogenesis, Type Ii
Abdominal distention, Stillbirth OMIM:200610
Walker-Warburg Syndrome
Hydrocephalus, Macrogyria, Polymicrogyria, Abnormal cortical gyration, Optic atrophy, Lissencepha... ORPHA:899
Lead Poisoning
Abdominal cramps, Miscarriage, Constipation, Abdominal distention, Abdominal pain, Anorexia, Abno... ORPHA:330015
Congenital Tufting Enteropathy
Abdominal distention, Vomiting, Optic disc coloboma, Choanal atresia, Chronic diarrhea, Secretory... ORPHA:92050
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Depressed nasal ridge, Encephalocele, Pachygyria, Polymicrogyria, Abnormal cortical gyration, Lis... ORPHA:2211
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Abdominal distention, Abdominal pain ORPHA:83469
Desmosterolosis
Hydrocephalus, Macrogyria, Depressed nasal bridge, Polymicrogyria, Abnormal cortical gyration, Ab... ORPHA:35107
Niemann-Pick Disease, Type A
Constipation, Vomiting, Athetosis, Feeding difficulties in infancy, Protuberant abdomen OMIM:257200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Protuberant abdomen, Wide nasal bridge OMIM:617102
Gaucher Disease, Type Ii
Dysphagia, Protuberant abdomen, Feeding difficulties OMIM:230900
Congenital Hypothyroidism
Constipation, Abdominal distention, Depressed nasal ridge, Optic atrophy, Feeding difficulties in... ORPHA:442
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Optic atrophy, Dystonia ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form
Abdominal distention, Decreased nerve conduction velocity, Optic atrophy, Feeding difficulties in... ORPHA:309256
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention ORPHA:1876
Joubert Syndrome
Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Anteverted nares, Encephalocele... ORPHA:475
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Optic nerve hypoplasia, Polymicrogyria, Optic atrophy, Ty... ORPHA:370959
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Abdominal distention ORPHA:85166
Neonatal Adrenoleukodystrophy
Optic atrophy, Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge ORPHA:44
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Neonatal death OMIM:619362
Alternating Hemiplegia Of Childhood
Constipation, Abdominal distention, Abnormal autonomic nervous system physiology, Anorexia, Diarr... ORPHA:2131
Tetrasomy 18P
Abnormality of neuronal migration, Short nose ORPHA:3307
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of neuronal migration, Anteverted nares, Encephalocele, Prominent nasa... ORPHA:2318
Ovarian Fibrothecoma
Abdominal distention, Abdominal pain ORPHA:314478
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Decreased nerve conduction velocity, Orthostatic hypotension due to autonom... ORPHA:309271
Thanatophoric Dysplasia
Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia ORPHA:2655
Pancreatoblastoma
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:677
Developmental Delay With Variable Neurologic And Brain Abnormalities
Anteverted nares, Wide nose, Gray matter heterotopia OMIM:619694
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hydrocephalus, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618476
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Depressed nasal bridge, Abnormality of neuronal migration, Short nose, Antever... ORPHA:261236
Hereditary Fructose Intolerance
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Chronic hepatic failure, ... ORPHA:469
Fraser Syndrome 2
Abdominal distention, Underdeveloped nasal alae OMIM:617666
Meckel Syndrome 14
Abdominal distention, Holoprosencephaly, Occipital encephalocele, Anteverted nares, Protuberant a... OMIM:619879
Chylomicron Retention Disease
Diarrhea, Abdominal distention, Vomiting ORPHA:71
Nephrotic Syndrome, Type 1
Abdominal distention, Gastroesophageal reflux OMIM:256300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Death in infancy, Wide nasal bridge, Hepatic failure OMIM:235255
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Thyroid Hypoplasia
Abdominal distention, Constipation ORPHA:95720
Necrotizing Enterocolitis
Bloody diarrhea, Diarrhea, Abdominal distention, Vomiting ORPHA:391673
Vici Syndrome
Gray matter heterotopia, Depressed nasal tip, Optic atrophy, Death in infancy, Agenesis of corpus... ORPHA:1493
Acute Intermittent Porphyria
Ileus, Constipation, Abdominal distention, Abdominal pain, Pseudobulbar paralysis, Diarrhea, Trem... ORPHA:79276
Mirizzi Syndrome
Abdominal distention, Abdominal pain, Anorexia, Vomiting, Nausea, Abdominal colic ORPHA:521219
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Death in infancy, Meningocele ORPHA:2481
Familial Visceral Myopathy
Anteverted nares, Abdominal distention, Prominent nasal bridge, Aganglionic megacolon ORPHA:2604
3C Syndrome
Hydrocephalus, Depressed nasal bridge, Optic atrophy, Short nose, Death in infancy, Abnormality o... ORPHA:7
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Schneckenbecken Dysplasia
Short nose, Stillbirth, Protuberant abdomen OMIM:269250
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea and vomiting ORPHA:370348
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Periventricular heterotopia, Prominent nasal bridge OMIM:618974
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Nausea, Abdominal distention, Abdominal pain ORPHA:64739
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Hypoperistalsis, Abdominal distention, Death in infancy ORPHA:2241
Thanatophoric Dysplasia, Type I
Hydrocephalus, Protuberant abdomen, Neonatal death OMIM:187600
Holoprosencephaly 14
Hydrocephalus, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, Gray m... OMIM:619895
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Depressed nasal bridge, Short nose, Lissencephaly, Anteve... OMIM:617822
Colonic Atresia
Abdominal distention ORPHA:1198
Primary Hepatic Neuroendocrine Carcinoma
Abdominal distention, Episodic abdominal pain, Anorexia, Diarrhea, Nausea ORPHA:100085
Pediatric Systemic Lupus Erythematosus
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:93552
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge ORPHA:2518
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Schimke Immuno-Osseous Dysplasia
Broad nasal tip, Depressed nasal bridge, Abdominal distention ORPHA:1830
Wilson Disease
Abdominal distention, Decreased nerve conduction velocity, Hand tremor, Hepatic failure, Hyposmia... OMIM:277900
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Nausea, Episodic abdominal pain ORPHA:100086
Lysosomal Acid Lipase Deficiency
Acute hepatic failure, Hepatic failure, Diarrhea, Vomiting, Death in infancy, Protuberant abdomen OMIM:278000
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:255138
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia, Depressed nasal bridge, Optic atrophy, Short nose, Co... OMIM:619833
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Enterocolitis, Diarrhea, Vomiting, Gastrointestin... ORPHA:90051
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Protuberant abdomen, Short nose, Anteverted nar... OMIM:200600
Fibrochondrogenesis 1
Depressed nasal bridge, Protuberant abdomen, Short nose, Anteverted nares, Stillbirth OMIM:228520
Radio-Tartaglia Syndrome
Bulbous nose, Prominent nasal tip, Gray matter heterotopia, Depressed nasal bridge, Anteverted na... OMIM:619312
Al Amyloidosis
Autonomic erectile dysfunction, Abdominal distention, Abnormal autonomic nervous system physiolog... ORPHA:85443
Donohue Syndrome
Abdominal distention OMIM:246200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:157
Fanconi-Bickel Syndrome
Poor appetite, Abdominal distention OMIM:227810
Diarrhea 1, Secretory Chloride, Congenital
Diarrhea, Abdominal distention OMIM:214700
Cirrhosis, Familial
Fulminant hepatitis, Abdominal distention OMIM:215600
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Diaphanospondylodysostosis
Depressed nasal bridge, Short nose, Protuberant abdomen, Depressed nasal ridge OMIM:608022
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen OMIM:184250
Sialuria
Protuberant abdomen, Wide nasal bridge OMIM:269921
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Depressed nasal bridge, Protuberant abdomen ORPHA:457485
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis ORPHA:2065
Celiac Disease, Susceptibility To, 1
Diarrhea, Abdominal distention, Vomiting, Abdominal pain OMIM:212750
Letterer-Siwe Disease
Abdominal distention OMIM:246400
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Feeding difficulties, Hepatic failure, Abdominal ... ORPHA:275761
Neu-Laxova Syndrome
Depressed nasal ridge, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality of ... ORPHA:2671
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Gastroesophageal reflux, Abdominal distention, Constipation, Holoprosencephaly, Po... OMIM:270400
Atelosteogenesis, Type I
Depressed nasal bridge, Protuberant abdomen, Neonatal death, Short nose, Encephalocele, Stillbirth OMIM:108720
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Bulbous nose, Polymicrogyria, Nasal congestion, Death in infancy, Abnormality of neuronal migrati... OMIM:608836
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Short columella, Gray matter heterotopia, Polymicrogyria OMIM:619775
Hurler Syndrome
Hydrocephalus, Broad nasal tip, Depressed nasal bridge, Anteverted nares, Protuberant abdomen, Wi... OMIM:607014
Schimke Immunoosseous Dysplasia
Depressed nasal bridge, Bulbous nose, Protuberant abdomen, Wide nasal bridge OMIM:242900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Broad nasal tip, Abdominal distention, Hepatic failure ORPHA:1655
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Man1B1-Cdg
Periventricular heterotopia, Underdeveloped nasolabial fold, Wide nose, Prominent nose, Wide nasa... ORPHA:397941
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia ORPHA:1860
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen, Wide nasal bridge OMIM:277440
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:228308
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Abnormality of neuronal migration, Optic disc coloboma, Prominent nasal bridge, An... ORPHA:1454
Primary Biliary Cholangitis
Orthostatic hypotension, Abdominal distention, Gastrointestinal inflammation, Hepatic failure ORPHA:186
Hereditary Spherocytosis
Abdominal distention, Abdominal pain ORPHA:822
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Neu-Laxova Syndrome 2
Spina bifida, Protuberant abdomen, Depressed nasal ridge OMIM:616038
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Abdominal distention, Colitis, Abdominal pain ORPHA:309031
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Anteverted nares, Depressed nasal bridge, Gray matter heterotopia, Underdeveloped nasal alae OMIM:608624
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Castleman Disease
Intestinal obstruction, Nausea and vomiting, Abdominal distention, Abdominal pain ORPHA:160
Coffin-Lowry Syndrome
Depressed nasal bridge, Abnormality of neuronal migration, Death in early adulthood, Optic atroph... ORPHA:192
Holoprosencephaly
Hydrocephalus, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Holoprosencephaly, H... ORPHA:2162
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Idiopathic Hypereosinophilic Syndrome
Colitis, Abdominal distention, Abdominal pain, Eosinophilia, Vomiting, Feeding difficulties in in... ORPHA:3260
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Opsismodysplasia
Anteverted nares, Depressed nasal bridge, Short nose, Protuberant abdomen OMIM:258480
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Thyroid Ectopia
Abdominal distention, Constipation ORPHA:95712
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Bilateral choanal atresia/stenosis, Agenesis... ORPHA:314679
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Optic nerve hypoplasia, Polymicrogyria, Optic disc pallor, Lissencep... ORPHA:468631
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Tube feeding, Feeding difficulties, Depressed nasal bridge, Protuberant abdomen, Wide nasal bridge OMIM:619479
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Anteverted nares, Depressed nasal bridge, Gray matter heterotopia OMIM:618797
Hydrolethalus Syndrome 1
Gray matter heterotopia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Bifid nose, Abnormal... OMIM:236680
Bohring-Opitz Syndrome
Gray matter heterotopia, Depressed nasal bridge, Anteverted nares, Agenesis of corpus callosum, W... OMIM:605039
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Anencephaly, Neonatal death, Protuberant abdomen OMIM:269860
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Pagod Syndrome
Optic atrophy, Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, S... ORPHA:991
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Prominent nasal tip, Convex nasal ridge, Depressed nasal bridge, Ant... OMIM:618870
16Q24.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Periventricular heterotopia, Colpocephaly ORPHA:261250
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention ORPHA:79403
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Aplasia o... OMIM:618820
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Short nose, Lissencephaly, Anteverted nares, Pachygyria, Wide na... OMIM:247200
Mucolipidosis Ii Alpha/Beta
Depressed nasal bridge, Death in childhood, Myelopathy, Recurrent bronchitis, Anteverted nares, P... OMIM:252500
Orofaciodigital Syndrome Xvi
Depressed nasal bridge, Gray matter heterotopia OMIM:617563
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Constipation, Diarrhea, Ganglioneuromatosis, Aganglionic megacolon ORPHA:653
Hepatocellular Carcinoma
Abdominal distention, Abdominal pain, Anorexia, Diarrhea, Poor appetite ORPHA:88673
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Mucopolysaccharidosis Type 3
Hydrocephalus, Constipation, Optic atrophy, Intermittent diarrhea, Thick nasal alae, Dysphagia, A... ORPHA:581
Opitz-Kaveggia Syndrome
Hydrocephalus, Gray matter heterotopia, Partial agenesis of the corpus callosum, Choanal atresia,... OMIM:305450
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Periventricular heterotopia, Decreased nerve co... OMIM:618733
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Wide nasal ridge ORPHA:531151
Aicardi Syndrome
Gray matter heterotopia, Optic disc coloboma, Polymicrogyria, Partial agenesis of the corpus call... OMIM:304050
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal mig... ORPHA:75857
X-Linked Acrogigantism
Abdominal distention ORPHA:300373
Dyggve-Melchior-Clausen Disease
Recurrent upper respiratory tract infections, Protuberant abdomen ORPHA:239
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting ORPHA:158684
Greenberg Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Protuberant abdomen, Neonatal death, Stillbirth OMIM:215140
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Constipation OMIM:218700
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Aplasia of the nose, Holoprosencephaly ORPHA:3186
Blomstrand Lethal Chondrodysplasia
Anteverted nares, Depressed nasal bridge, Short nose, Protuberant abdomen ORPHA:50945
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Underdevelo... OMIM:311200
Currarino Syndrome
Gastrointestinal obstruction, Chronic constipation, Abdominal distention OMIM:176450
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Wide nasal bridge, Subcortical band... OMIM:615546
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia, Neonatal death OMIM:620024
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Kniest-Like Dysplasia, Lethal
Protuberant abdomen OMIM:245190
Arboleda-Tham Syndrome
Gastroesophageal reflux, Low hanging columella, Feeding difficulties, Broad nasal tip, Protuberan... OMIM:616268
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Atelosteogenesis Type Ii
Protuberant abdomen, Wide nasal base ORPHA:56304
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention OMIM:271520
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Death in childhood, Polymicrogyria, Optic disc pallor, Anteverted nares OMIM:214100
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Abdominal distention ORPHA:436252
Short Rib-Polydactyly Syndrome
Depressed nasal bridge, Protuberant abdomen ORPHA:1505
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention OMIM:619351
Mowat-Wilson Syndrome
Prominent nasal tip, Constipation, Abdominal distention, Low hanging columella, Agenesis of corpu... OMIM:235730
Pyknoachondrogenesis
Abdominal distention, Depressed nasal ridge ORPHA:3003
Liver Disease, Severe Congenital
Abdominal distention, Feeding difficulties, Hepatic failure, Depressed nasal bridge, Diarrhea, Vo... OMIM:619991
Kasabach-Merritt Syndrome
Abdominal distention, Abdominal pain ORPHA:2330
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Gray matter heterotopia ORPHA:26791
Mucolipidosis Type Ii
Gastrostomy tube feeding in infancy, Depressed nasal bridge, Protuberant abdomen ORPHA:576
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Feeding difficulties, Depressed nasal bridge, Gastrostomy tube feeding in infancy, S... ORPHA:96334
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Broad nasal tip, Prominent nasal bridge ORPHA:2754
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Protuberant abdomen OMIM:608328
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Diarrhea, Protuberant abdomen, Inflammation of the large intestine, Ulcerative col... ORPHA:79259
Cranioectodermal Dysplasia 1
Anteverted nares, Protuberant abdomen, Wide nasal bridge, Hepatic failure OMIM:218330
Leprechaunism
Wide nose, Abdominal distention ORPHA:508
Bilateral Perisylvian Polymicrogyria
Facial diplegia, Bilateral perisylvian polymicrogyria, Choanal atresia, Abnormality of neuronal m... ORPHA:98889
Glycogen Storage Disease Ib
Protuberant abdomen, Inflammation of the large intestine OMIM:232220
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Gastroesophageal reflux, Aqueductal stenosis, Abdominal distention, Depressed nasa... OMIM:619534
Koolen-De Vries Syndrome
Bulbous nose, Gray matter heterotopia, Prominent nasal bridge, Pear-shaped nose OMIM:610443
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Death in adolescence, Recurrent sinusitis, Prominen... OMIM:256040
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Prominent nose, Pachygyria, Stillbirth, Agenesis of corpus callosum OMIM:210710
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abdominal distention, Anorexia, Diarrhea, Rhinitis, Gastrointestinal inflammation, Oral-pharyngea... ORPHA:95455
Atresia Of Urethra
Abdominal distention ORPHA:105
Viss Syndrome
Gastroesophageal reflux, Abdominal distention, Feeding difficulties, Depressed nasal bridge, Hype... OMIM:619472
Nijmegen Breakage Syndrome
Convex nasal ridge, Depressed nasal bridge, Prominent nose, Abnormality of neuronal migration, Pr... ORPHA:647
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Depressed nasal bridge, Protuberant abdomen OMIM:618019
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Wide nose, Abdominal distention, Agenesis of corpus callosum ORPHA:93271
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Broad nasal tip, Optic nerve hypoplasia, Underdeveloped nasal alae, Agen... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Broad nasal tip, Optic nerve hypoplasia, Underdeveloped nasal alae, Agen... ORPHA:352665
Fontaine Progeroid Syndrome
Hydrocephalus, Gray matter heterotopia, Convex nasal ridge, Periventricular heterotopia, Depresse... OMIM:612289
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Gray matter heterotopia, Underdeveloped nasal alae,... ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Optic disc pallor, Prominent nasal bridge ORPHA:464311
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Polymicrogyria, Optic disc coloboma, Simplified g... OMIM:615948
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Genitopatellar Syndrome
Periventricular heterotopia, Wide nose, Prominent nose, Prominent nasal bridge, Colpocephaly, Age... OMIM:606170
Eisenmenger Syndrome
Abdominal distention ORPHA:97214
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Bulbous nose, Periventricular heterotopia ORPHA:434179
Proteus Syndrome
Anteverted nares, Depressed nasal bridge, Gray matter heterotopia, Thick nasal alae ORPHA:744
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Convex nasal ridge, Low hanging columella, Depressed nasal tip, Agen... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Convex nasal ridge, Low hanging columella, Depressed nasal tip, Agen... ORPHA:261552
Mowat-Wilson Syndrome
Periventricular heterotopia, Prominent nasal tip, Low hanging columella, Depressed nasal tip, Age... ORPHA:2152
Kallmann Syndrome
Tremor, Anosmia, Hyposmia ORPHA:478

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fezf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fezf1.

No publications found that use IMPC mice or data for Fezf1.

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