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
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ... OMIM:300067
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Vomiting, Diarrhea, Abdominal distention ORPHA:35122
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu... OMIM:604213
Trehalase Deficiency
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:103909
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital... ORPHA:352682
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Band Heterotopia
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... OMIM:600348
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Colonic Atresia
Abdominal distention OMIM:303650
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Projectile vomiting, Abdominal distention, Feeding d... OMIM:620045
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abdominal pain, Abdominal distention, Dyspepsia, Nausea, Chronic diarrhea ORPHA:103907
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Neonatal death, Wide nasal bridge, Colpocephaly OMIM:614870
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G... ORPHA:2924
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Primary Peritoneal Carcinoma
Abdominal pain, Constipation, Abdominal distention, Nausea and vomiting ORPHA:168829
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Feeding difficulties, Abdominal distention, Death in infancy OMIM:618528
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Lissencephaly 5
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Subcortical band he... OMIM:615191
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal pain, Abdominal distention, Malnutrition, Gastrointestinal dysmotility, Constipation, I... OMIM:613662
Volvulus Of Midgut
Neonatal intestinal obstruction, Constipation, Abdominal distention OMIM:193250
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... ORPHA:101030
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Vomiting, Secretory diarrhea, Dependency on parenteral nutrition OMIM:619445
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention ORPHA:48686
Cap Polyposis
Diarrhea, Abdominal pain, Abdominal distention, Constipation, Hematochezia ORPHA:160148
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... OMIM:616212
Athyreosis
Feeding difficulties, Constipation, Abdominal distention ORPHA:95713
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Atresia Of Small Intestine
Feeding difficulties, Vomiting, Abdominal distention ORPHA:1201
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Acrocephalopolydactyly
Short nose, Depressed nasal ridge, Protuberant abdomen ORPHA:221054
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Optic atrophy, Simplified gyral pattern, Communicating hydrocephalus, Li... OMIM:615219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Partial age... OMIM:616171
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Thyroid Hemiagenesis
Constipation, Abdominal distention ORPHA:95719
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Abdominal distention, Protuberant abdomen OMIM:277300
Meckel Syndrome, Type 8
Encephalocele, Depressed nasal ridge, Abdominal distention, Short nose, Occipital encephalocele OMIM:613885
Qazi-Markouizos Syndrome
Chronic constipation, Prominent nasal bridge, Torticollis, Abdominal distention ORPHA:3010
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Projectile vomiting, Abdominal distention, Chronic d... OMIM:615237
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appetite, Decreas... ORPHA:298
Achondrogenesis, Type Ib
Stillbirth, Abdominal distention OMIM:600972
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia, Abdominal pain, Abdominal distention, Anorexia, Nausea, Recurrent infection of the gas... ORPHA:51890
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria ORPHA:2512
Folinic Acid-Responsive Seizures
Optic atrophy, Dystonia, Abdominal distention ORPHA:79097
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Depressed nasal bridge, Constipation, Prot... ORPHA:226313
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Abnormality of neuronal migration, Wide nasal bridge, 4-layered lissencephaly, Microli... ORPHA:89844
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Abdominal pain, Abdominal distention, Gastroparesis OMIM:277320
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Leber Congenital Amaurosis
Abnormal optic disc morphology, Encephalocele, Abnormality of neuronal migration ORPHA:65
Achondrogenesis Type 1A
Anteverted nares, Abdominal distention, Short nose ORPHA:93299
Peritoneal Cystic Mesothelioma
Abdominal pain, Constipation, Abdominal distention ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Death in childhood, Abdominal distention, Death in infancy OMIM:619423
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Cleft ala nasi OMIM:164180
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus, Short nose, Anteverted nares, Choanal atresia ORPHA:1895
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Diarrhea, Death in infancy, Abdominal distention, Decreased liver function, Neonatal death OMIM:608104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Agyria, Hydroc... OMIM:614643
Hemimegalencephaly
Gray matter heterotopia, Optic atrophy, Pachygyria, Abnormal neuron morphology, Polymicrogyria ORPHA:99802
Permanent Congenital Hypothyroidism
Feeding difficulties, Constipation, Abdominal distention ORPHA:226292
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Ileus ORPHA:168811
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... OMIM:207950
Wolman Disease
Malnutrition, Hepatic failure, Abdominal distention, Nausea and vomiting ORPHA:75233
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Glucose-Galactose Malabsorption
Vomiting, Diarrhea, Abdominal distention, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Small intestinal dysmotility, Aganglionic megacolon, Abdominal... ORPHA:95427
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Protuberant abdomen OMIM:618272
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Vomiting, Intestinal pseudo-obstruction, Abdominal distention OMIM:300048
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Abdominal pain, Episodic vomiting, Abdominal distention, Nausea, Constipation ORPHA:100924
Liver Failure, Infantile, Transient
Vomiting, Death in infancy, Feeding difficulties in infancy, Abdominal distention, Acute hepatic ... OMIM:613070
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Depressed nasal bridge, Holopros... ORPHA:93274
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Gray matter heterotopia, Pachygyria ORPHA:370980
Gonadoblastoma
Abdominal pain, Abdominal distention ORPHA:206484
Visceral Myopathy 1
Vomiting, Diarrhea, Aganglionic megacolon, Abdominal pain, Abdominal distention, Malnutrition, Co... OMIM:155310
Ovarian Fibroma
Abdominal pain, Abdominal distention ORPHA:314473
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Optic disc coloboma, Secretory diarrhea, Abdominal distention, Choanal atresia OMIM:270420
Lead Poisoning
Vomiting, Abdominal cramps, Abdominal pain, Abnormality of the autonomic nervous system, Abdomina... ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Facial palsy OMIM:608840
Congenital Tufting Enteropathy
Vomiting, Abdominal distention, Secretory diarrhea, Chronic diarrhea, Optic disc coloboma, Choana... ORPHA:92050
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Vomiting, Nausea, Abdominal distention ORPHA:90003
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Optic atrophy, Macrogyria, Hydroce... ORPHA:899
Fibrochondrogenesis 2
Short nose, Anteverted nares, Protuberant abdomen OMIM:614524
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormality of neuronal migration, Depressed nasal ridge, Wide nasal ... ORPHA:2211
Congenital Hypothyroidism
Depressed nasal ridge, Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Anos... ORPHA:442
Desmoplastic Small Round Cell Tumor
Ileus, Abdominal pain, Abdominal distention, Nausea and vomiting ORPHA:83469
Niemann-Pick Disease, Type A
Vomiting, Feeding difficulties in infancy, Constipation, Athetosis, Protuberant abdomen OMIM:257200
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Polymic... ORPHA:35107
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Dystonia, Intention tremor ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction ... ORPHA:309256
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abdominal distention, Gastroparesis ORPHA:1876
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Type II lissenceph... ORPHA:370959
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Joubert Syndrome
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... ORPHA:475
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Abdominal distention ORPHA:85166
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation, Short nose, Depressed nasal bridge, An... OMIM:614105
Neonatal Adrenoleukodystrophy
Anteverted nares, Optic atrophy, Abnormality of neuronal migration, Wide nasal bridge ORPHA:44
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention OMIM:619362
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen OMIM:617102
Ovarian Fibrothecoma
Abdominal pain, Abdominal distention ORPHA:314478
Alternating Hemiplegia Of Childhood
Vomiting, Diarrhea, Abnormal autonomic nervous system physiology, Choreoathetosis, Abdominal dist... ORPHA:2131
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Short nose, Anteverted nares, Optic... OMIM:617201
Tetrasomy 18P
Abnormality of neuronal migration, Short nose ORPHA:3307
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Abdominal distention, Decrea... ORPHA:309271
Pancreatoblastoma
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:677
Joubert Syndrome With Oculorenal Defect
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte... ORPHA:2318
Peripheral Primitive Neuroectodermal Tumor
Episodic abdominal pain, Nausea and vomiting, Torticollis, Abdominal distention, Anorexia ORPHA:370348
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration, Death in infancy ORPHA:2481
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Protuberant abdomen OMIM:613330
Vici Syndrome
Gray matter heterotopia, Optic atrophy, Death in infancy, Depressed nasal tip, Agenesis of corpus... ORPHA:1493
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Chronic hepatic failure, Nausea, Consti... ORPHA:469
Meckel Syndrome 14
Abdominal distention, Holoprosencephaly, Anteverted nares, Occipital encephalocele, Protuberant a... OMIM:619879
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Gray matter heterotopia, Anteverted nares OMIM:619694
Fraser Syndrome 2
Underdeveloped nasal alae, Abdominal distention OMIM:617666
Thanatophoric Dysplasia
Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus ORPHA:2655
Necrotizing Enterocolitis
Bloody diarrhea, Vomiting, Diarrhea, Abdominal distention ORPHA:391673
Thyroid Hypoplasia
Constipation, Abdominal distention ORPHA:95720
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Abdominal distention OMIM:256300
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Polyembryoma
Abdominal pain, Abdominal distention ORPHA:180229
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Wide nasal bridge, Abdominal distention, Death in infancy OMIM:235255
Mirizzi Syndrome
Vomiting, Abdominal colic, Abdominal pain, Abdominal distention, Anorexia, Nausea ORPHA:521219
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Protuberant abdomen OMIM:187600
Chylomicron Retention Disease
Vomiting, Diarrhea, Abdominal distention ORPHA:71
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Acute Intermittent Porphyria
Diarrhea, Nausea and vomiting, Pseudobulbar paralysis, Abdominal pain, Abdominal distention, Trem... ORPHA:79276
Familial Visceral Myopathy
Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Abdominal distention ORPHA:2604
Schneckenbecken Dysplasia
Short nose, Stillbirth, Protuberant abdomen OMIM:269250
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Short nose, Depressed nasal bridge, Holoprosencephaly, Antever... ORPHA:261236
Ovarian Hyperstimulation Syndrome
Abdominal pain, Nausea, Abdominal distention, Nausea and vomiting ORPHA:64739
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia, Aqueductal stenosis, Proboscis, Hydrocephal... OMIM:619895
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Hypoperistalsis, Abdominal distention, Nausea and vomiting ORPHA:2241
3C Syndrome
Abnormality of neuronal migration, Optic atrophy, Wide nasal bridge, Death in infancy, Hydrocepha... ORPHA:7
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia OMIM:618974
Colonic Atresia
Abdominal distention ORPHA:1198
Schimke Immuno-Osseous Dysplasia
Depressed nasal bridge, Broad nasal tip, Abdominal distention ORPHA:1830
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:93552
Wilson Disease
Hepatic failure, Vomiting, Hyposmia, Limb dystonia, Hand tremor, Abdominal distention, Decreased ... OMIM:277900
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Wide nasal bridge, Depressed nasal bridge, Neonatal death, Polymicrogyria OMIM:614887
Primary Hepatic Neuroendocrine Carcinoma
Episodic abdominal pain, Diarrhea, Abdominal distention, Anorexia, Nausea ORPHA:100085
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Sepsis In Premature Infants
Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdomina... ORPHA:90051
Gallbladder Neuroendocrine Tumor
Episodic abdominal pain, Anorexia, Abdominal distention, Nausea ORPHA:100086
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Anteverted nares, Optic atrophy, Abnormality of neuronal migration, Wide nasal bridge ORPHA:2518
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Optic atrophy, Hydrocephalus, Short nose, Depressed nasal bridge, Co... OMIM:619833
Lysosomal Acid Lipase Deficiency
Hepatic failure, Vomiting, Diarrhea, Death in infancy, Acute hepatic failure, Protuberant abdomen OMIM:278000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Depressed nasal bridge, Stillbirth, Protuberant abdomen OMIM:151210
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria ORPHA:255138
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Radio-Tartaglia Syndrome
Gray matter heterotopia, Wide nasal bridge, Prominent nasal tip, Depressed nasal bridge, Antevert... OMIM:619312
Fibrochondrogenesis 1
Short nose, Depressed nasal bridge, Stillbirth, Anteverted nares, Protuberant abdomen OMIM:228520
Donohue Syndrome
Abdominal distention OMIM:246200
Achondrogenesis, Type Ia
Short nose, Hypoplastic nasal bridge, Depressed nasal bridge, Anteverted nares, Stillbirth, Protu... OMIM:200600
Al Amyloidosis
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Achondrogenesis, Type Ii
Stillbirth, Protuberant abdomen OMIM:200610
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly, Short nose, Depressed nasal bridge, Anteve... OMIM:617822
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite OMIM:227810
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:157
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Celiac Disease, Susceptibility To, 1
Abdominal pain, Vomiting, Diarrhea, Abdominal distention OMIM:212750
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis OMIM:215600
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Depressed nasal bridge, Protuberant abdomen ORPHA:457485
Diaphanospondylodysostosis
Short nose, Depressed nasal bridge, Depressed nasal ridge, Protuberant abdomen OMIM:608022
Lysosomal Acid Lipase Deficiency
Hepatic failure, Vomiting, Diarrhea, Nausea and vomiting, Abdominal pain, Abdominal distention, M... ORPHA:275761
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Depressed nasal ridge, Spina bifid... ORPHA:2671
Letterer-Siwe Disease
Abdominal distention OMIM:246400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Vomiting, Diarrhea, Reye syndrome-like episodes, Abdominal distention, Acute hep... OMIM:256810
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen OMIM:184250
Galloway-Mowat Syndrome
Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Short columella, Partial agenesis of the corpus callosum, Polymicrogyria OMIM:619775
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Encephalocele, Wide nasal bridge, Bifid nose, Periventricular nodular he... OMIM:603671
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Broad nasal tip, Abdominal distention ORPHA:1655
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Vomiting, Poor suck, Wide nasal bridge, Death in infancy, Aganglionic me... OMIM:270400
Fanconi-Bickel Syndrome
Hepatic failure, Abdominal distention ORPHA:2088
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Abdominal distention OMIM:214700
Atelosteogenesis, Type I
Encephalocele, Short nose, Depressed nasal bridge, Stillbirth, Neonatal death, Protuberant abdomen OMIM:108720
Hurler Syndrome
Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Prot... OMIM:607014
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Death in infancy, Nasal congestion, Bulbous nose, Agenesis of ... OMIM:608836
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus ORPHA:1860
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Tube feeding, Wide nasal bridge, Lateral ventricle dilatation, Depressed nasal bridge, Feeding di... OMIM:619479
Schimke Immunoosseous Dysplasia
Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen OMIM:242900
Sialuria
Wide nasal bridge, Protuberant abdomen OMIM:269921
Neu-Laxova Syndrome 2
Spina bifida, Depressed nasal ridge, Protuberant abdomen OMIM:616038
Man1B1-Cdg
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Underdeveloped nasolab... ORPHA:397941
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Optic atrophy, Hydrocephalus, Bulbous nose, Agenesis of corpus callosum OMIM:618476
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Protuberant abdomen OMIM:277440
Gaucher Disease, Type Ii
Gastroesophageal reflux, Death in infancy, Dysphagia, Feeding difficulties, Protuberant abdomen OMIM:230900
Castleman Disease
Abdominal pain, Intestinal obstruction, Abdominal distention, Nausea and vomiting ORPHA:160
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Anteverted nares, Occipital encephalocele, Opti... ORPHA:1454
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:228308
Hereditary Spherocytosis
Abdominal pain, Abdominal distention ORPHA:822
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Primary Biliary Cholangitis
Orthostatic hypotension, Hepatic failure, Abdominal distention, Gastrointestinal inflammation ORPHA:186
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Diarrhea, Abdominal distention, Colitis ORPHA:309031
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Coffin-Lowry Syndrome
Wide nose, Abnormality of neuronal migration, Optic atrophy, Depressed nasal bridge, Death in ear... ORPHA:192
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Abdominal distention, Death in infancy OMIM:617156
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Holoprosencephaly
Absent nares, Aplasia/Hypoplasia involving the nose, Spinal dysraphism, Encephalocele, Depressed ... ORPHA:2162
Opsismodysplasia
Short nose, Depressed nasal bridge, Anteverted nares, Protuberant abdomen OMIM:258480
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Underdeveloped nasal alae, Depressed nasal bridge, Gray matter heterotopia, Anteverted nares OMIM:608624
Idiopathic Hypereosinophilic Syndrome
Vomiting, Chronic diarrhea, Feeding difficulties in infancy, Abdominal pain, Abdominal distention... ORPHA:3260
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Thyroid Ectopia
Constipation, Abdominal distention ORPHA:95712
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Bilateral choanal atresia/stenosis, Wide nasal bridge, Dysplastic corpus... ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydroce... OMIM:615287
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Holoprosencephaly, Neonatal death, Protuberant abdomen OMIM:269860
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Convex nasal ridge, Periventricular heterotopia, Prominent nasal tip, Depressed nasal bridge, Ant... OMIM:618870
Van Maldergem Syndrome 1
Gray matter heterotopia, Wide nasal bridge, Simplified gyral pattern, Periventricular nodular het... OMIM:601390
Hepatocellular Carcinoma
Diarrhea, Poor appetite, Abdominal pain, Abdominal distention, Anorexia ORPHA:88673
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Wide nasal bridge, Simplified gyral pattern, Lissencephaly, Optic ne... ORPHA:468631
Junctional Epidermolysis Bullosa With Pyloric Atresia
Abdominal distention, Nausea and vomiting ORPHA:79403
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Depressed nasal bridge, Anteverted nares OMIM:618797
Bohring-Opitz Syndrome
Gray matter heterotopia, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Agenesis of... OMIM:605039
Pagod Syndrome
Meningocele, Encephalocele, Abnormality of neuronal migration, Optic atrophy, Death in infancy, S... ORPHA:991
Aicardi Syndrome
Gray matter heterotopia, Optic atrophy, Lateral ventricle dilatation, Spina bifida, Partial agene... OMIM:304050
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Gray matter heterotopia ORPHA:531151
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Aplasia of the nasal bone, Colpocephaly, Short nose, Holoprosencephaly, ... OMIM:618820
Mucolipidosis Ii Alpha/Beta
Recurrent bronchitis, Depressed nasal bridge, Myelopathy, Anteverted nares, Death in childhood, P... OMIM:252500
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Bifid nose, Mi... OMIM:236680
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia, Anteverted nares, Optic nerve hypoplasia ORPHA:261250
Mucopolysaccharidosis Type 3
Intermittent diarrhea, Optic atrophy, Hydrocephalus, Adenoiditis, Constipation, Dysphagia, Thick ... ORPHA:581
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Wide nasal bridge, Agyria, Lissencephaly, Short nose, Anteverted nares, ... OMIM:247200
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Depressed nasal bridge OMIM:617563
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Diarrhea, Aganglionic megacolon, Abdominal distention, Constipation ORPHA:653
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention ORPHA:158684
X-Linked Acrogigantism
Abdominal distention ORPHA:300373
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Greenberg Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Stillbirth, Neonatal death, Protuberant abdomen OMIM:215140
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Periventri... OMIM:618733
Currarino Syndrome
Abdominal distention, Chronic constipation, Gastrointestinal obstruction OMIM:176450
Blomstrand Lethal Chondrodysplasia
Short nose, Depressed nasal bridge, Anteverted nares, Protuberant abdomen ORPHA:50945
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr... ORPHA:75857
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Arboleda-Tham Syndrome
Gastroesophageal reflux, Optic atrophy, Dystonia, Broad nasal tip, Bifid nasal tip, Dysphagia, Lo... OMIM:616268
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Constipation, Abdominal distention OMIM:218700
Atelosteogenesis Type Ii
Wide nasal base, Protuberant abdomen ORPHA:56304
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Prominent nose, Hydrocephalus, Partial agenesis of the corpus callosum, ... OMIM:305450
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly, Aplasia of the nose ORPHA:3186
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Dyggve-Melchior-Clausen Disease
Recurrent upper respiratory tract infections, Protuberant abdomen ORPHA:239
Orofaciodigital Syndrome I
Underdeveloped nasal alae, Gray matter heterotopia, Myelomeningocele, Wide nasal bridge, Abnormal... OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Prominent nose, Colpocephaly, Abnormal cortical gyration, Lateral ventri... OMIM:210710
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Neonatal death, Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Kasabach-Merritt Syndrome
Abdominal pain, Abdominal distention ORPHA:2330
Pyknoachondrogenesis
Depressed nasal ridge, Abdominal distention ORPHA:3003
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention OMIM:271520
Short Rib-Polydactyly Syndrome
Depressed nasal bridge, Protuberant abdomen ORPHA:1505
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Abdominal distention ORPHA:436252
Van Maldergem Syndrome 2
Gray matter heterotopia, Wide nasal bridge, Periventricular nodular heterotopia, Depressed nasal ... OMIM:615546
Mowat-Wilson Syndrome
Vomiting, Wide nasal bridge, Aganglionic megacolon, Prominent nasal tip, Agenesis of corpus callo... OMIM:235730
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Anteverted nares, Optic disc pallor, Death in childhood, Polymicrogyria OMIM:214100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention OMIM:619351
Liver Disease, Severe Congenital
Hepatic failure, Vomiting, Diarrhea, Dependency on parenteral nutrition, Narrow nasal ridge, Abdo... OMIM:619991
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Depressed nasal bridge ORPHA:26791
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Abdomi... OMIM:619534
Mucolipidosis Type Ii
Depressed nasal bridge, Gastrostomy tube feeding in infancy, Protuberant abdomen ORPHA:576
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wide nose, Spinal dysraphism, Gastrostomy tube feeding in infancy, Wide nasal bridge, Miscarriage... ORPHA:96334
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Orofaciodigital Syndrome Type 6
Prominent nasal bridge, Broad nasal tip, Abnormality of neuronal migration ORPHA:2754
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Protuberant abdomen OMIM:608328
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Diarrhea, Ulcerative colitis, Epistaxis, Inflammation of the large intestine, Prot... ORPHA:79259
Koolen-De Vries Syndrome
Gray matter heterotopia, Bulbous nose, Pear-shaped nose, Prominent nasal bridge OMIM:610443
Leprechaunism
Wide nose, Abdominal distention ORPHA:508
Glycogen Storage Disease Ib
Inflammation of the large intestine, Protuberant abdomen OMIM:232220
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Cranioectodermal Dysplasia 1
Anteverted nares, Hepatic failure, Wide nasal bridge, Protuberant abdomen OMIM:218330
Vici Syndrome
Wide nose, Depressed nasal bridge, Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Rhinitis, Diarrhea, Abdominal distention, Anorexia, Gastrointestinal inflammation, Oral-pharyngea... ORPHA:95455
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Proteasome-Associated Autoinflammatory Syndrome 1
Prominent nose, Chronic constipation, Recurrent sinusitis, Recurrent upper respiratory tract infe... OMIM:256040
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Depressed nasal bridge, Protuberant abdomen OMIM:618019
Atresia Of Urethra
Abdominal distention ORPHA:105
Viss Syndrome
Hypereosinophilia, Gastroesophageal reflux, Chronic diarrhea, Chronic constipation, Abdominal dis... OMIM:619472
Nijmegen Breakage Syndrome
Convex nasal ridge, Prominent nose, Abnormality of neuronal migration, Depressed nasal bridge, Pr... ORPHA:647
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Agenesis of corpus callosum, Abdominal distention ORPHA:93271
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Underdeveloped nasal alae, Abnormal autonomic nervous system physiology, Gray matter heterotopia,... ORPHA:453499
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Underdeveloped nasal alae, Gray matter heterotopia, Wide nasal bridge, Optic nerve hypoplasia, Br... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Underdeveloped nasal alae, Gray matter heterotopia, Wide nasal bridge, Optic nerve hypoplasia, Br... ORPHA:352665
Fontaine Progeroid Syndrome
Gray matter heterotopia, Convex nasal ridge, Periventricular heterotopia, Death in infancy, Hydro... OMIM:612289
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Partial agenesis of the... OMIM:615948
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Prominent nasal bridge, Abnormality of neuronal migration ORPHA:464311
Arima Syndrome
Occipital meningocele, Gray matter heterotopia, Optic atrophy OMIM:243910
Genitopatellar Syndrome
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Pachygyria, Prominent ... OMIM:606170
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Eisenmenger Syndrome
Abdominal distention ORPHA:97214
Orofaciodigital Syndrome Type 14
Bulbous nose, Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Proteus Syndrome
Gray matter heterotopia, Depressed nasal bridge, Thick nasal alae, Anteverted nares ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Convex nasal ridge, Periventricular heterotopia, Wide nasal bridge, Lateral ventricle dilatation,... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Convex nasal ridge, Periventricular heterotopia, Wide nasal bridge, Optic atrophy, Lateral ventri... ORPHA:261552
Mowat-Wilson Syndrome
Periventricular heterotopia, Wide nasal bridge, Aganglionic megacolon, Prominent nasal tip, Broad... ORPHA:2152
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
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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