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Gene: Fezf1 MGI:1920441

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Fezf1 (2 diseases)
Human diseases predicted to be associated with Fezf1 (319 diseases)

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	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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