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
Hyposmia, Tremor, Anosmia ORPHA:478

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Partial agene... OMIM:604213
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc... OMIM:611603
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Gray matt... ORPHA:352682
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Vomiting, Abdominal pain ORPHA:313906
Wolman Disease
Vomiting, Abdominal distention, Acute hepatic failure, Death in infancy OMIM:620151
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption ORPHA:103907
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent... OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Feeding d... OMIM:620045
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Wide nasal bridge, Pachygyria OMIM:614870
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Isolated Polycystic Liver Disease
Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Feedi... ORPHA:2924
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Primary Peritoneal Carcinoma
Constipation, Abdominal distention, Nausea and vomiting, Abdominal pain ORPHA:168829
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Constipation, Malabsorption,... OMIM:613662
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Acalvaria
Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida ORPHA:945
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterot... OMIM:615191
Volvulus Of Midgut
Constipation, Abdominal distention, Neonatal intestinal obstruction OMIM:193250
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Diarrhea 12, With Microvillus Atrophy
Vomiting, Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea OMIM:619445
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... ORPHA:101030
Glucose/Galactose Malabsorption
Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Malabsorption OMIM:606824
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Anteverted nares, Bulbous nose, Simplified gyral pattern, Pac... OMIM:616212
Cap Polyposis
Abdominal distention, Diarrhea, Abdominal pain, Constipation, Hematochezia ORPHA:160148
Athyreosis
Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Acrocephalopolydactyly
Short nose, Protuberant abdomen, Depressed nasal ridge ORPHA:221054
Small Bowel Atresia
Vomiting, Abdominal distention, Feeding difficulties ORPHA:1201
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, V... OMIM:615237
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Agenesis of corpus callosum,... ORPHA:300573
Qazi-Markouizos Syndrome
Abdominal distention, Prominent nasal bridge, Torticollis, Chronic constipation ORPHA:3010
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Simplified gyral pattern, Prominent nose, Periventricular heterotopia, Partial age... OMIM:616171
Meckel Syndrome, Type 8
Abdominal distention, Short nose, Occipital encephalocele, Encephalocele, Depressed nasal ridge OMIM:613885
Inflammatory Pseudotumor Of The Liver
Vomiting, Abdominal distention, Nausea, Abdominal pain ORPHA:90003
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen, Death in infancy OMIM:277300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal distention, Abdominal pain, Nausea, Recurrent infection of the gastrointestin... ORPHA:51890
Achondrogenesis, Type Ib
Stillbirth, Abdominal distention OMIM:600972
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Decreased sensory nerve conduction velocity, Gastroesophageal reflux, Diarr... ORPHA:298
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polymicrogyria, Abnormal cortical gyration, Neonatal death OMIM:619602
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Folinic Acid-Responsive Seizures
Optic atrophy, Abdominal distention, Dystonia ORPHA:79097
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenes... ORPHA:89844
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Abdominal distention, Gastroparesis, Abdominal pain OMIM:277320
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Constipation, Protuberant abdomen, Feeding difficulties in infancy, Depress... ORPHA:226313
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele, Abnormal optic disc morphology ORPHA:65
Peritoneal Cystic Mesothelioma
Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Achondrogenesis Type 1A
Abdominal distention, Short nose, Anteverted nares ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Abdominal distention, Death in childhood, Death in infancy OMIM:619423
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, Death in infancy, Vomiting, Neonatal death OMIM:608104
Edinburgh Malformation Syndrome
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Abnormality of neuronal migration ORPHA:1895
Wolman Disease
Abdominal distention, Steatorrhea, Nausea and vomiting, Malnutrition, Hepatic failure ORPHA:75233
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in childhood, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, ... OMIM:614643
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Osmotic diarrhea, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Malignant Peritoneal Mesothelioma
Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly,... OMIM:615219
Congenital Tufting Enteropathy
Abdominal distention, Steatorrhea, Chronic diarrhea, Choanal atresia, Vomiting, Secretory diarrhe... ORPHA:92050
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Hemimegalencephaly
Optic atrophy, Polymicrogyria, Gray matter heterotopia, Abnormal neuron morphology, Pachygyria ORPHA:99802
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen... OMIM:207950
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention, Anteverted nares, Depressed nasal bridge OMIM:618528
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Anteverted nares, Protuberant abdomen, Depressed nasal bridge OMIM:618272
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Constipation, Nausea ORPHA:100924
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Vomiting, Abdominal distention, Feeding difficulties in infancy, Intestinal pseudo-obstruction OMIM:300048
Liver Failure, Infantile, Transient
Abdominal distention, Death in infancy, Vomiting, Acute hepatic failure, Feeding difficulties in ... OMIM:613070
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Depressed nas... ORPHA:93274
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Malabsorption, Gastroparesis, Intestinal pseudo-obstruction ORPHA:1876
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Feeding difficulties, Gastroesophageal reflux, Death in infancy OMIM:620275
Ovarian Fibroma
Abdominal distention, Abdominal pain ORPHA:314473
Fibrochondrogenesis 2
Anteverted nares, Short nose, Protuberant abdomen OMIM:614524
Lead Poisoning
Anorexia, Abdominal distention, Abdominal pain, Miscarriage, Abnormality of the autonomic nervous... ORPHA:330015
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Visceral Myopathy 1
Abdominal distention, Aganglionic megacolon, Intestinal pseudo-obstruction, Gastroparesis, Diarrh... OMIM:155310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Facial palsy, Pachygyria OMIM:608840
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea, Choanal atresia, Optic disc coloboma OMIM:270420
Niemann-Pick Disease, Type A
Athetosis, Vomiting, Constipation, Protuberant abdomen, Feeding difficulties in infancy OMIM:257200
Necrotizing Enterocolitis
Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom... ORPHA:391673
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Neonatal death OMIM:619362
Pancreatoblastoma
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:677
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Opt... ORPHA:370959
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Dystonia, Feeding diffi... ORPHA:309256
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal... ORPHA:899
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Dystonia ORPHA:309263
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Depressed nasal bridge ORPHA:85166
Joubert Syndrome
Aganglionic megacolon, Encephalocele, Hydrocephalus, Polymicrogyria, Anteverted nares, Abnormalit... ORPHA:475
Neonatal Adrenoleukodystrophy
Optic atrophy, Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge ORPHA:44
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen, Wide nasal bridge, Depressed nasal bridge OMIM:617102
Desmosterolosis
Abnormality of the nose, Short nose, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, A... ORPHA:35107
Periventricular Nodular Heterotopia 7
Short nose, Polymicrogyria, Anteverted nares, Gray matter heterotopia, Periventricular nodular he... OMIM:617201
Alternating Hemiplegia Of Childhood
Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Diarrhea, Tremor, Abnormal autonomic n... ORPHA:2131
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Anteverted nares, Lateral ventricle dilatation, Periventricular heterotopia, Bulbous ... OMIM:614105
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Polymicrogyria, Depressed nasal ridge, Abnormality of ... ORPHA:2211
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Gray matter heterotopia, Pachygyria ORPHA:370980
Ovarian Fibrothecoma
Abdominal distention, Abdominal pain ORPHA:314478
Tetrasomy 18P
Short nose, Abnormality of neuronal migration ORPHA:3307
Developmental Delay With Variable Neurologic And Brain Abnormalities
Anteverted nares, Gray matter heterotopia, Wide nose OMIM:619694
Meckel Syndrome 14
Abdominal distention, Occipital encephalocele, Anteverted nares, Holoprosencephaly, Protuberant a... OMIM:619879
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Encephalocele, Hydrocephalus, Anteverted nares, Abnormality of neuronal mi... ORPHA:2318
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Protuberant abdomen OMIM:613330
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Bowel incontinence, Int... ORPHA:309271
Hereditary Fructose Intolerance
Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti... ORPHA:469
Thyroid Hypoplasia
Constipation, Abdominal distention ORPHA:95720
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia, Depressed nasal bridge ORPHA:2655
Nephrotic Syndrome, Type 1
Abdominal distention, Gastroesophageal reflux OMIM:256300
Vici Syndrome
Optic atrophy, Gray matter heterotopia, Death in infancy, Depressed nasal tip, Agenesis of corpus... ORPHA:1493
Familial Visceral Myopathy
Abdominal distention, Anteverted nares, Aganglionic megacolon, Prominent nasal bridge ORPHA:2604
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Abdominal distention, Wide nasal bridge, Hepatic failure OMIM:235255
Neurocutaneous Melanocytosis
Death in infancy, Abnormality of neuronal migration, Meningocele ORPHA:2481
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
16P13.11 Microdeletion Syndrome
Short nose, Anteverted nares, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of c... ORPHA:261236
Acute Intermittent Porphyria
Abdominal distention, Diarrhea, Abdominal pain, Tremor, Constipation, Nausea and vomiting, Ileus,... ORPHA:79276
Schneckenbecken Dysplasia
Stillbirth, Short nose, Protuberant abdomen OMIM:269250
Thanatophoric Dysplasia, Type I
Hydrocephalus, Neonatal death, Protuberant abdomen OMIM:187600
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Abdominal distention, Torticollis, Episodic abdominal pain, Nausea and vomiting ORPHA:370348
Mirizzi Syndrome
Anorexia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abdominal colic ORPHA:521219
Holoprosencephaly 14
Aqueductal stenosis, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Anteverted nares, Gray m... OMIM:619895
Thyroid Hemiagenesis
Constipation, Abdominal distention ORPHA:95719
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain ORPHA:64739
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Prominent nasal bridge, Depressed nasal bridge OMIM:618974
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Colonic Atresia
Abdominal distention ORPHA:1198
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abdominal distention, Hypoperistalsis, Death in infancy ORPHA:2241
3C Syndrome
Optic atrophy, Short nose, Hydrocephalus, Death in infancy, Abnormality of neuronal migration, Wi... ORPHA:7
Cholesteryl Ester Storage Disease
Steatorrhea, Diarrhea, Death in infancy, Vomiting, Acute hepatic failure, Protuberant abdomen, He... OMIM:278000
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Broad nasal tip, Depressed nasal bridge ORPHA:1830
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:93552
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia, Neonatal death, Wide nasal bridge, Depressed nasal bridge OMIM:614887
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea ORPHA:100085
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Protuberant abdomen, Depressed nasal bridge OMIM:151210
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Short nose, Hydrocephalus, Colpocephaly, Periventricular heterotopia, Depressed na... OMIM:619833
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge ORPHA:2518
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Protuberant abdomen, Depressed nasal bridge ORPHA:457485
Celiac Disease, Susceptibility To, 1
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Vomiting OMIM:212750
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Fibrochondrogenesis 1
Stillbirth, Short nose, Anteverted nares, Protuberant abdomen, Depressed nasal bridge OMIM:228520
Radio-Tartaglia Syndrome
Anteverted nares, Prominent nasal tip, Gray matter heterotopia, Prominent nasal bridge, Agenesis ... OMIM:619312
Achondrogenesis, Type Ia
Short nose, Stillbirth, Anteverted nares, Hypoplastic nasal bridge, Protuberant abdomen, Depresse... OMIM:200600
Al Amyloidosis
Abdominal distention, Gastrointestinal hemorrhage, Gastroparesis, Abnormal autonomic nervous syst... ORPHA:85443
Donohue Syndrome
Abdominal distention OMIM:246200
Alkuraya-Kucinskas Syndrome
Short nose, Hydrocephalus, Anteverted nares, Gray matter heterotopia, Lissencephaly, Depressed na... OMIM:617822
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Achondrogenesis, Type Ii
Stillbirth, Protuberant abdomen OMIM:200610
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:157
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal reflux OMIM:620233
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Nausea ORPHA:100086
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Diarrhea, Abdominal pa... ORPHA:275761
Diaphanospondylodysostosis
Depressed nasal ridge, Short nose, Protuberant abdomen, Depressed nasal bridge OMIM:608022
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis OMIM:215600
Galloway-Mowat Syndrome
Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen OMIM:184250
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Partial agenesis of the corpus callosum, Short columella, Gray matter heterotopia OMIM:619775
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Abdominal distention, Diarrhea, Reye syndrome-like episodes, Vomiting, Dystonia, Acute hepatic fa... OMIM:256810
Neuroblastoma
Abdominal distention, Chronic diarrhea, Horner syndrome ORPHA:635
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abdominal distention, Broad nasal tip, Hepatic failure ORPHA:1655
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Tube feeding, Feeding difficulties, Lateral ventricle dilatation, Protuberant abdomen, Wide nasal... OMIM:619479
Letterer-Siwe Disease
Abdominal distention OMIM:246400
Smith-Lemli-Opitz Syndrome
Abdominal distention, Aganglionic megacolon, Gastroesophageal reflux, Hydrocephalus, Anteverted n... OMIM:270400
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Wilson Disease
Abdominal distention, Decreased nerve conduction velocity, Hyposmia, Tremor, Limb dystonia, Vomit... OMIM:277900
Atelosteogenesis, Type I
Stillbirth, Short nose, Encephalocele, Neonatal death, Protuberant abdomen, Depressed nasal bridge OMIM:108720
Hurler Syndrome
Hydrocephalus, Anteverted nares, Broad nasal tip, Protuberant abdomen, Wide nasal bridge, Depress... OMIM:607014
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Neu-Laxova Syndrome 2
Protuberant abdomen, Depressed nasal ridge, Spina bifida OMIM:616038
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Schimke Immunoosseous Dysplasia
Bulbous nose, Protuberant abdomen, Wide nasal bridge, Depressed nasal bridge OMIM:242900
Sialuria
Protuberant abdomen, Wide nasal bridge OMIM:269921
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen, Wide nasal bridge OMIM:277440
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia, Depressed nasal bridge ORPHA:1860
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Colitis ORPHA:309031
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Nasal congestion, Death in infancy, Abnormality of neuronal migration, Agenesis o... OMIM:608836
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal distention, Abdominal pain ORPHA:160
Gaucher Disease, Type Ii
Gastroesophageal reflux, Death in infancy, Dysphagia, Feeding difficulties, Protuberant abdomen OMIM:230900
Man1B1-Cdg
Underdeveloped nasolabial fold, Wide nose, Prominent nose, Periventricular heterotopia, Wide nasa... ORPHA:397941
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Anteverted nares, Abnormality of neuronal migration, Prom... ORPHA:1454
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Depressed nasal ridge, Spina bifida, Abnormality of n... ORPHA:2671
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hydrocephalus, Agenesis of corpus callosum, Periventricular heterotopia, Bulbous nose OMIM:618476
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:228308
Hereditary Spherocytosis
Abdominal distention, Abdominal pain ORPHA:822
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Chronic diarrhea, Abdominal pain, Vomiting, Malabsorption, Dysphagia, Eosin... ORPHA:3260
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Anteverted nares, Underdeveloped nasal alae, Gray matter heterotopia, Depressed nasal bridge OMIM:608624
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Abdominal distention, Hepatic failure OMIM:617156
Coffin-Lowry Syndrome
Optic atrophy, Wide nose, Death in early adulthood, Anteverted nares, Thick nasal alae, Abnormali... ORPHA:192
Fraser Syndrome 2
Abdominal distention, Underdeveloped nasal alae, Wide nose OMIM:617666
Opsismodysplasia
Anteverted nares, Short nose, Protuberant abdomen, Depressed nasal bridge OMIM:258480
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Holoprosencephaly
Optic atrophy, Absent nares, Encephalocele, Hydrocephalus, Anteverted nares, Hyposmia, Anosmia, C... ORPHA:2162
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Depressed nasal bridge, Agenesis of corpus callosum OMIM:618929
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Anteverted nares, Prominent nasal tip, Convex nasal ridge, Periventricular heterotopia, Depressed... OMIM:618870
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Bilateral choanal atresia/stenosis, Gray matter heterotopia, Agenesis... ORPHA:314679
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Neonatal death, Holoprosencephaly, Protuberant abdomen OMIM:269860
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Protuberant abdomen, Recurrent upper respiratory tract infections OMIM:253220
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Orthostatic hypotension, Hepati... ORPHA:186
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention ORPHA:79403
Mucopolysaccharidosis Type 3
Optic atrophy, Intermittent diarrhea, Hydrocephalus, Thick nasal alae, Constipation, Malabsorptio... ORPHA:581
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Optic nerve hypoplasia, Lobar holoprosencephaly, Prominent nasal bridge, Simplifi... ORPHA:468631
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Wide nasal bridge, Bulbous nose, Broad nasal tip, Gray matter heterotopia OMIM:620475
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Anteverted nares, Gray matter heterotopia, Depressed nasal bridge OMIM:618797
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Gray matter heterotopia ORPHA:531151
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Short nose, Polymicrogyria, Gray matter heterotopia, Aplasia of the n... OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Hydrocephalus, Type II lissencephaly... OMIM:615287
Bohring-Opitz Syndrome
Anteverted nares, Gray matter heterotopia, Agenesis of corpus callosum, Wide nasal bridge, Depres... OMIM:605039
Mucolipidosis Ii Alpha/Beta
Death in childhood, Anteverted nares, Protuberant abdomen, Myelopathy, Depressed nasal bridge OMIM:252500
Aicardi Syndrome
Optic atrophy, Polymicrogyria, Anteverted nares, Gray matter heterotopia, Spina bifida, Lateral v... OMIM:304050
Acromelic Frontonasal Dysostosis
Midline defect of the nose, Encephalocele, Optic nerve hypoplasia, Bifid nasal tip, Gray matter h... OMIM:603671
Pagod Syndrome
Optic atrophy, Encephalocele, Meningocele, Spina bifida, Death in infancy, Abnormality of neurona... ORPHA:991
Miller-Dieker Lissencephaly Syndrome
Short nose, Anteverted nares, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Wide na... OMIM:247200
Greenberg Dysplasia
Stillbirth, Depressed nasal ridge, Neonatal death, Protuberant abdomen, Depressed nasal bridge OMIM:215140
Thyroid Ectopia
Constipation, Abdominal distention, Dysphagia ORPHA:95712
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention ORPHA:158684
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Anteverted nares, Periventricular heterotopia, Colpocephaly ORPHA:261250
Currarino Syndrome
Abdominal distention, Chronic constipation, Gastrointestinal obstruction OMIM:176450
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Depressed nasal bridge OMIM:617563
X-Linked Acrogigantism
Abdominal distention ORPHA:300373
Hydrolethalus Syndrome 1
Stillbirth, Midline defect of the nose, Abnormal cortical gyration, Anencephaly, Gray matter hete... OMIM:236680
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Aganglionic megacolon, Ganglioneuromatosis, Diarrhea, Constipation ORPHA:653
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periven... ORPHA:75857
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Blomstrand Lethal Chondrodysplasia
Anteverted nares, Short nose, Protuberant abdomen, Depressed nasal bridge ORPHA:50945
Atelosteogenesis Type Ii
Wide nasal base, Protuberant abdomen ORPHA:56304
Dyggve-Melchior-Clausen Disease
Protuberant abdomen, Recurrent upper respiratory tract infections ORPHA:239
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Periventri... OMIM:618733
Hypothyroidism, Congenital, Nongoitrous, 2
Constipation, Abdominal distention, Feeding difficulties in infancy OMIM:218700
Opitz-Kaveggia Syndrome
Hydrocephalus, Choanal atresia, Gray matter heterotopia, Prominent nose, Partial agenesis of the ... OMIM:305450
Arboleda-Tham Syndrome
Optic atrophy, Gastroesophageal reflux, Low hanging columella, Bifid nasal tip, Dystonia, Broad n... OMIM:616268
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly, Aplasia of the nose ORPHA:3186
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Agenesis of... OMIM:311200
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Abnormal cortical gyration, Death in childhood, Hydrocephalus, Polymicrogyria, Microl... OMIM:210710
Pyknoachondrogenesis
Abdominal distention, Depressed nasal ridge ORPHA:3003
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Kasabach-Merritt Phenomenon
Abdominal distention, Abdominal pain ORPHA:2330
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Neonatal death, Gray matter heterotopia, Pachygyria OMIM:620024
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention OMIM:271520
Galloway-Mowat Syndrome 1
Optic atrophy, Narrow nasal ridge, Abnormality of neuronal migration, Pachygyria, Prominent nose OMIM:251300
Mowat-Wilson Syndrome
Abdominal distention, Aganglionic megacolon, Low hanging columella, Prominent nasal tip, Vomiting... OMIM:235730
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Bloody diarrhea ORPHA:436252
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia, Wide ... OMIM:615546
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Liver Disease, Severe Congenital
Abdominal distention, Diarrhea, Narrow nasal ridge, Vomiting, Feeding difficulties, Malnutrition,... OMIM:619991
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention OMIM:619351
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Polymicrogyria, Anteverted nares, Gray matter heterotopia, Optic disc pallor OMIM:214100
Mucolipidosis Type Ii
Depressed nasal bridge, Protuberant abdomen, Gastrostomy tube feeding in infancy ORPHA:576
Atresia Of Urethra
Abdominal distention ORPHA:105
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Depressed nasal bridge ORPHA:26791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wide nose, Anteverted nares, Miscarriage, Depressed nasal bridge, Feeding difficulties, Spinal dy... ORPHA:96334
Weill-Marchesani Syndrome 2
Protuberant abdomen, Depressed nasal bridge OMIM:608328
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Protuberant abdomen, Inflammation of the large intestine, Enterocolitis, Epistaxis, Ulc... ORPHA:79259
Koolen-De Vries Syndrome
Pear-shaped nose, Bulbous nose, Prominent nasal bridge, Gray matter heterotopia OMIM:610443
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Prominent nasal bridge, Broad nasal tip ORPHA:2754
Biliary, Renal, Neurologic, And Skeletal Syndrome
Abdominal distention, Aqueductal stenosis, Gastroesophageal reflux, Hydrocephalus, Anteverted nar... OMIM:619534
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Facial diplegia, Choanal atresia, Abnormality of... ORPHA:98889
Leprechaunism
Abdominal distention, Wide nose ORPHA:508
Cranioectodermal Dysplasia 1
Anteverted nares, Protuberant abdomen, Wide nasal bridge, Hepatic failure OMIM:218330
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
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Bulbous nose, Prominent nasal bridge, Gray matter heterotopia, Depressed nasal bridge OMIM:620654
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Protuberant abdomen, Depressed nasal bridge OMIM:618019
Viss Syndrome
Abdominal distention, Gastroesophageal reflux, Chronic diarrhea, Prominent nasal bridge, Dysphagi... OMIM:619472
Proteasome-Associated Autoinflammatory Syndrome 1
Death in adolescence, Recurrent sinusitis, Chronic constipation, Recurrent upper respiratory trac... OMIM:256040
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Abdominal distention, Gastrointestinal inflammation, Oral-pharyngeal dysphagia, Diarrhe... ORPHA:95455
Vici Syndrome
Wide nose, Depressed nasal bridge, Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Prominent nasal bridge, Prominent nose, Convex nasal ridge, De... ORPHA:647
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abdominal distention, Wide nose, Agenesis of corpus callosum, Depressed nasal bridge ORPHA:93271
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Gray matter heterotopia, Abnormal autonomic nervous... ORPHA:453499
Fontaine Progeroid Syndrome
Short nose, Hydrocephalus, Gray matter heterotopia, Death in infancy, Neonatal death, Convex nasa... OMIM:612289
Multicystic Dysplastic Kidney
Abdominal distention ORPHA:1851
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Gray matter heterotopia, Broad nasal tip, Agenesis of corpus callosum, Wi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Gray matter heterotopia, Broad nasal tip, Agenesis of corpus callosum, Wi... ORPHA:352665
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Prominent nasal bridge, Optic disc pallor ORPHA:464311
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Polymicrogyria, Holoprosencephaly, Simplified gyral pattern, Optic disc ... OMIM:615948
Arima Syndrome
Optic atrophy, Occipital meningocele, Gray matter heterotopia OMIM:243910
Genitopatellar Syndrome
Wide nose, Colpocephaly, Prominent nasal bridge, Pachygyria, Agenesis of corpus callosum, Promine... OMIM:606170
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:618918
Eisenmenger Syndrome
Abdominal distention ORPHA:97214
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Partial agenesis of the corpus callosum, Bulbous nose ORPHA:434179
Proteus Syndrome
Anteverted nares, Thick nasal alae, Gray matter heterotopia, Depressed nasal bridge ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Low hanging columella, Polymicrogyria, Depressed nasal tip, Agenesis of co... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Aganglionic megacolon, Low hanging columella, Polymicrogyria, Depressed nasal tip,... ORPHA:261552
Mowat-Wilson Syndrome
Aganglionic megacolon, Low hanging columella, Polymicrogyria, Prominent nasal tip, Depressed nasa... ORPHA:2152
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Kallmann Syndrome
Hyposmia, Tremor, Anosmia 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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