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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 (326 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		Anosmia, Tremor, Hyposmia	ORPHA:478

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

Disease	Matching phenotypes	Source
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Lissencephaly, X-Linked, 1	Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse...	OMIM:300067
Chudley-Mccullough Syndrome	Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heterotopia, Partial agene...	OMIM:604213
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy...	OMIM:611603
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Congenital Sucrase-Isomaltase Deficiency	Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matt...	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
Wolman Disease	Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention	OMIM:620151
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea	ORPHA:103907
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Band Heterotopia	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Gray ma...	OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus	OMIM:618709
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti...	OMIM:620045
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Colpocephaly, Pachygyria, Neonatal death	OMIM:614870
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Primary Peritoneal Carcinoma	Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention	ORPHA:168829
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip...	OMIM:613662
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Bulbous nose, Abnormality of neuronal migration, Pachygyria, Gray matter heteroto...	OMIM:604317
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Lissencephaly 5	Optic atrophy, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterot...	OMIM:615191
Volvulus Of Midgut	Neonatal intestinal obstruction, Constipation, Abdominal distention	OMIM:193250
Primary Effusion Lymphoma	Abdominal pain, Abdominal distention	ORPHA:48686
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention	OMIM:619445
Subependymal Nodular Heterotopia	Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men...	ORPHA:101030
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention	OMIM:606824
Lissencephaly 6 With Microcephaly	Polymicrogyria, Bulbous nose, Anteverted nares, Periventricular heterotopia, Microlissencephaly, ...	OMIM:616212
Cap Polyposis	Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain	ORPHA:160148
Athyreosis	Constipation, Feeding difficulties, Abdominal distention	ORPHA:95713
Acrocephalopolydactyly	Depressed nasal ridge, Protuberant abdomen, Short nose	ORPHA:221054
Small Bowel Atresia	Vomiting, Feeding difficulties, Abdominal distention	ORPHA:1201
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr...	OMIM:615237
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte...	ORPHA:300573
Qazi-Markouizos Syndrome	Torticollis, Prominent nasal bridge, Chronic constipation, Abdominal distention	ORPHA:3010
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Prominent nose, Periventricular heterotopia, Optic disc pallor, Partial agenesis o...	OMIM:616171
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Encephalocele, Abdominal distention, Short nose	OMIM:613885
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Vomiting, Nausea, Abdominal distention	ORPHA:90003
Spondylocostal Dysostosis 1, Autosomal Recessive	Protuberant abdomen, Death in infancy, Abdominal distention	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	Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi...	ORPHA:51890
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth	OMIM:600972
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Decreased motor nerve conduction velocity, Gastroesophageal reflux, Vomiting, Nausea, G...	ORPHA:298
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Polymicrogyria, Abnormal cortical gyration, Neonatal death	OMIM:619602
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Folinic Acid-Responsive Seizures	Optic atrophy, Dystonia, Abdominal distention	ORPHA:79097
Lissencephaly Syndrome, Norman-Roberts Type	Wide nasal bridge, 4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal ...	ORPHA:89844
Visceral Myopathy, Familial, With External Ophthalmoplegia	Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition	OMIM:277320
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdom...	ORPHA:226313
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Leber Congenital Amaurosis	Abnormality of neuronal migration, Abnormal optic disc morphology, Encephalocele	ORPHA:65
Peritoneal Cystic Mesothelioma	Abdominal pain, Constipation, Abdominal distention	ORPHA:168816
Achondrogenesis Type 1A	Anteverted nares, Short nose, Abdominal distention	ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Death in childhood, Death in infancy, Abdominal distention	OMIM:619423
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Cleft ala nasi, Orbital encephalocele, Agenesis of corpus callosum	OMIM:164180
Congenital Disorder Of Glycosylation, Type Ih	Vomiting, Diarrhea, Decreased liver function, Death in infancy, Neonatal death, Abdominal distention	OMIM:608104
Edinburgh Malformation Syndrome	Choanal atresia, Anteverted nares, Abnormality of neuronal migration, Hydrocephalus, Short nose	ORPHA:1895
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea	ORPHA:75233
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Malnutrition, Malabsorption, Aganglionic megacolon, Small intestinal dysmotil...	ORPHA:95427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Encephalocele, Death in childhood...	OMIM:614643
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention	ORPHA:35710
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Abdominal distention	ORPHA:103910
Malignant Peritoneal Mesothelioma	Abdominal pain, Ileus, Abdominal distention	ORPHA:168811
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matte...	OMIM:615219
Congenital Tufting Enteropathy	Choanal atresia, Vomiting, Secretory diarrhea, Optic disc coloboma, Malabsorption, Abdominal dist...	ORPHA:92050
Hemimegalencephaly	Optic atrophy, Polymicrogyria, Abnormal neuron morphology, Pachygyria, Gray matter heterotopia	ORPHA:99802
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depressed nasal bridge, Anteverted nares, Fulminant hepatic failure, Abdominal distention	OMIM:618528
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Depressed nasal bridge, Anteverted nares, Protuberant abdomen	OMIM:618272
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdominal pain	ORPHA:100924
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Feeding difficulties in infancy, Vomiting, Intestinal pseudo-obstruction, Abdominal distention	OMIM:300048
Liver Failure, Infantile, Transient	Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis...	OMIM:613070
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention	ORPHA:369
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holopros...	ORPHA:93274
Oculogastrointestinal Muscular Dystrophy	Gastroparesis, Malabsorption, Intestinal pseudo-obstruction, Abdominal distention	ORPHA:1876
Gonadoblastoma	Abdominal pain, Abdominal distention	ORPHA:206484
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum	OMIM:617622
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Feeding difficulties, Gastroesophageal reflux, Death in infancy, Abdominal distention	OMIM:620275
Ovarian Fibroma	Abdominal pain, Abdominal distention	ORPHA:314473
Fibrochondrogenesis 2	Anteverted nares, Protuberant abdomen, Short nose	OMIM:614524
Lead Poisoning	Vomiting, Abdominal distention, Abnormality of the autonomic nervous system, Nausea, Constipation...	ORPHA:330015
Desmoplastic Small Round Cell Tumor	Abdominal pain, Ileus, Nausea and vomiting, Abdominal distention	ORPHA:83469
Visceral Myopathy 1	Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Aganglionic megac...	OMIM:155310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Facial palsy, Pachygyria	OMIM:608840
Niemann-Pick Disease, Type A	Vomiting, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Athetosis	OMIM:257200
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Choanal atresia, Secretory diarrhea, Optic disc coloboma, Abdominal distention	OMIM:270420
Necrotizing Enterocolitis	Vomiting, Diarrhea, Hypoactive bowel sounds, Abdominal rigidity, Abdominal distention, Bloody dia...	ORPHA:391673
Chylomicron Retention Disease	Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption	ORPHA:71
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Neonatal death	OMIM:619362
Pancreatoblastoma	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:677
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agenesis of corpus...	ORPHA:370959
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Decreased nerve conduction velocity, Feeding difficulties in infancy, Abdominal di...	ORPHA:309256
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Abdominal distention	OMIM:619365
Walker-Warburg Syndrome	Optic atrophy, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormali...	ORPHA:899
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Decreased nerve conduction velocity, Abdominal distention, Dystonia, Intention tremor	ORPHA:309263
Platyspondylic Dysplasia, Torrance Type	Depressed nasal bridge, Abdominal distention	ORPHA:85166
Joubert Syndrome	Polymicrogyria, Anteverted nares, Prominent nasal bridge, Encephalocele, Abnormality of neuronal ...	ORPHA:475
Neonatal Adrenoleukodystrophy	Wide nasal bridge, Optic atrophy, Anteverted nares, Abnormality of neuronal migration	ORPHA:44
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Protuberant abdomen	OMIM:617102
Periventricular Nodular Heterotopia 7	Polymicrogyria, Periventricular nodular heterotopia, Anteverted nares, Gray matter heterotopia, O...	OMIM:617201
Alternating Hemiplegia Of Childhood	Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dys...	ORPHA:2131
Desmosterolosis	Lissencephaly, Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose, Polym...	ORPHA:35107
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Abnormal cortical gyration, Polymicrogyria, Encephaloce...	ORPHA:2211
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Anteverted nares, Periventric...	OMIM:614105
Ovarian Fibrothecoma	Abdominal pain, Abdominal distention	ORPHA:314478
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia, Facial diplegia	ORPHA:370980
Tetrasomy 18P	Abnormality of neuronal migration, Short nose	ORPHA:3307
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Anteverted nares, Wide nose	OMIM:619694
Meckel Syndrome 14	Occipital encephalocele, Anteverted nares, Protuberant abdomen, Abdominal distention, Holoprosenc...	OMIM:619879
Joubert Syndrome With Oculorenal Defect	Anteverted nares, Prominent nasal bridge, Encephalocele, Abnormality of neuronal migration, Agang...	ORPHA:2318
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Protuberant abdomen	OMIM:613330
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Decreased nerve conduction velocity, Intention tremor, Orthostatic hypotension due...	ORPHA:309271
Hereditary Fructose Intolerance	Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina...	ORPHA:469
Thyroid Hypoplasia	Constipation, Abdominal distention	ORPHA:95720
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Abdominal distention	OMIM:256300
Thanatophoric Dysplasia	Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus	ORPHA:2655
Vici Syndrome	Optic atrophy, Depressed nasal tip, Death in infancy, Agenesis of corpus callosum, Gray matter he...	ORPHA:1493
Familial Visceral Myopathy	Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Abdominal distention	ORPHA:2604
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Hepatic failure, Death in infancy, Abdominal distention	OMIM:235255
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Meningocele, Death in infancy	ORPHA:2481
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Agenesis of corpus callosum, Abnormality of neuronal mi...	ORPHA:261236
Acute Intermittent Porphyria	Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Tremor, Constipation, Abdominal dis...	ORPHA:79276
Peripheral Primitive Neuroectodermal Tumor	Abdominal distention, Nausea and vomiting, Episodic abdominal pain, Torticollis, Anorexia	ORPHA:370348
Schneckenbecken Dysplasia	Protuberant abdomen, Short nose, Stillbirth	OMIM:269250
Thanatophoric Dysplasia, Type I	Hydrocephalus, Protuberant abdomen, Neonatal death	OMIM:187600
Microvillus Inclusion Disease	Diarrhea, Abdominal distention	ORPHA:2290
Mirizzi Syndrome	Vomiting, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Nausea	ORPHA:521219
Holoprosencephaly 14	Alobar holoprosencephaly, Proboscis, Anteverted nares, Periventricular heterotopia, Hydrocephalus...	OMIM:619895
Thyroid Hemiagenesis	Constipation, Abdominal distention	ORPHA:95719
Polyembryoma	Abdominal pain, Abdominal distention	ORPHA:180229
Ovarian Hyperstimulation Syndrome	Abdominal pain, Nausea and vomiting, Nausea, Abdominal distention	ORPHA:64739
Colonic Atresia	Abdominal distention	ORPHA:1198
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia	OMIM:618974
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hypoperistalsis, Nausea and vomiting, Death in infancy, Abdominal distention	ORPHA:2241
3C Syndrome	Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Death in infancy, Abnormality of neuron...	ORPHA:7
Schimke Immuno-Osseous Dysplasia	Depressed nasal bridge, Broad nasal tip, Abdominal distention	ORPHA:1830
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Death in infancy, Protuberant abdomen...	OMIM:278000
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:93552
Peroxisome Biogenesis Disorder 13A (Zellweger)	Wide nasal bridge, Depressed nasal bridge, Polymicrogyria, Neonatal death, Gray matter heterotopia	OMIM:614887
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea	ORPHA:100085
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Depressed nasal bridge, Protuberant abdomen, Stillbirth	OMIM:151210
Sepsis In Premature Infants	Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac...	ORPHA:90051
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Optic atrophy, Periventricular heterotopia, Colpocephaly, Hydrocephalus, ...	OMIM:619833
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Wide nasal bridge, Optic atrophy, Anteverted nares, Abnormality of neuronal migration	ORPHA:2518
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Depressed nasal bridge, Lactose intolerance, Protuberant abdomen	ORPHA:457485
Celiac Disease, Susceptibility To, 1	Vomiting, Diarrhea, Abdominal distention, Steatorrhea, Abdominal pain	OMIM:212750
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Protuberant abdomen, Stillbirth, Short nose	OMIM:228520
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Protuberant abdomen, Stillbir...	OMIM:200600
Radio-Tartaglia Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Prominent nasal bridge...	OMIM:619312
Al Amyloidosis	Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Gastroparesis, A...	ORPHA:85443
Donohue Syndrome	Abdominal distention	OMIM:246200
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:255138
Alkuraya-Kucinskas Syndrome	Lissencephaly, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Gray matter heterotopia, ...	OMIM:617822
Achondrogenesis, Type Ii	Protuberant abdomen, Stillbirth	OMIM:200610
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa...	ORPHA:157
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Vomiting, Gastroesophageal reflux, Chronic diarrhea, Abdominal distention	OMIM:620233
Gallbladder Neuroendocrine Tumor	Anorexia, Episodic abdominal pain, Nausea, Abdominal distention	ORPHA:100086
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Nausea and vomiting,...	ORPHA:275761
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Protuberant abdomen, Short nose	OMIM:608022
Cirrhosis, Familial	Fulminant hepatitis, Abdominal distention	OMIM:215600
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria	ORPHA:2065
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Vomiting, Diarrhea, Acute hepatic failure, Reye syndrome-like episodes, Abdomina...	OMIM:256810
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Short columella	OMIM:619775
Neuroblastoma	Chronic diarrhea, Horner syndrome, Abdominal distention	ORPHA:635
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Broad nasal tip, Abdominal distention	ORPHA:1655
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Protuberant abdomen, Tub...	OMIM:619479
Letterer-Siwe Disease	Abdominal distention	OMIM:246400
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Vomiting, Gastroesophageal reflux, Anteverted nares, D...	OMIM:270400
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Wilson Disease	Hepatic failure, Vomiting, Hand tremor, Acute hepatic failure, Decreased nerve conduction velocit...	OMIM:277900
Atelosteogenesis, Type I	Depressed nasal bridge, Encephalocele, Neonatal death, Protuberant abdomen, Stillbirth, Short nose	OMIM:108720
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Hydrocephalus, Prot...	OMIM:607014
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Abdominal distention	OMIM:214700
Fanconi-Bickel Syndrome	Hepatic failure, Abdominal distention	ORPHA:2088
Neu-Laxova Syndrome 2	Depressed nasal ridge, Spina bifida, Protuberant abdomen	OMIM:616038
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Bulbous nose, Protuberant abdomen, Depressed nasal bridge	OMIM:242900
Sialuria	Wide nasal bridge, Protuberant abdomen	OMIM:269921
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Protuberant abdomen	OMIM:277440
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus	ORPHA:1860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Nasal congestion, Bulbous nose, Death in infancy, Agenesis of corpus callosum, Ab...	OMIM:608836
Castleman Disease	Abdominal pain, Nausea and vomiting, Intestinal obstruction, Abdominal distention	ORPHA:160
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Colitis, Abdominal distention, Steatorrhea, Abdominal pain	ORPHA:309031
Gaucher Disease, Type Ii	Gastroesophageal reflux, Death in infancy, Protuberant abdomen, Dysphagia, Feeding difficulties	OMIM:230900
Man1B1-Cdg	Wide nasal bridge, Prominent nose, Periventricular heterotopia, Underdeveloped nasolabial fold, W...	ORPHA:397941
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Optic disc coloboma, Anteverted nares, Prominent nasal bridge, Abnormali...	ORPHA:1454
Neu-Laxova Syndrome	Depressed nasal ridge, Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migrat...	ORPHA:2671
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Bulbous nose, Periventricular heterotopia, Agenesis of corpus callosum, Hydrocephalus	OMIM:618476
Fanconi-Bickel Syndrome	Malabsorption, Poor appetite, Abdominal distention	OMIM:227810
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa...	ORPHA:228308
Hereditary Spherocytosis	Abdominal pain, Abdominal distention	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	Vomiting, Malabsorption, Colitis, Eosinophilia, Feeding difficulties in infancy, Abdominal disten...	ORPHA:3260
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae	OMIM:608624
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Death in infancy, Abdominal distention	OMIM:617156
Coffin-Lowry Syndrome	Optic atrophy, Depressed nasal bridge, Thick nasal alae, Anteverted nares, Death in early adultho...	ORPHA:192
Fraser Syndrome 2	Abdominal distention, Underdeveloped nasal alae, Wide nose	OMIM:617666
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Protuberant abdomen, Short nose	OMIM:258480
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Holoprosencephaly	Choanal atresia, Depressed nasal ridge, Spinal dysraphism, Anosmia, Aplasia/Hypoplasia involving ...	ORPHA:2162
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
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Anteverted nares, Periventricular heterotopia, Prominent nasal tip, Conve...	OMIM:618870
Short-Rib Thoracic Dysplasia 12	Neonatal death, Hydrocephalus, Protuberant abdomen, Holoprosencephaly, Anencephaly	OMIM:269860
Cerebrofacioarticular Syndrome	Wide nasal bridge, Bilateral choanal atresia/stenosis, Agenesis of corpus callosum, Dysplastic co...	ORPHA:314679
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Hydrocephalus, Protuberant abdomen	OMIM:253220
Primary Biliary Cholangitis	Hepatic failure, Orthostatic hypotension, Gastrointestinal inflammation, Abdominal distention, St...	ORPHA:186
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Abdominal distention	ORPHA:79403
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Wide nasal bridge, Bulbous nose, Broad nasal tip, Gray matter heterotopia	OMIM:620475
Mucopolysaccharidosis Type 3	Optic atrophy, Thick nasal alae, Malabsorption, Adenoiditis, Constipation, Hydrocephalus, Protube...	ORPHA:581
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Wide nasal bridge, Polymicrogyria, Simplified gyral pattern, Prominent nasal bridge, Periventricu...	ORPHA:468631
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Depressed nasal bridge, Anteverted nares	OMIM:618797
Van Maldergem Syndrome 1	Wide nasal bridge, Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subc...	OMIM:601390
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Wide nasal ridge	ORPHA:531151
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Aplasia of the nasal bone, Dysplastic corpus callosum, Agenesis of corpus callosu...	OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Type II lissencephaly, Optic nerve dysplasia, Agenesis of corpus callosu...	OMIM:615287
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Agenesis of corpus callosum, Gray ma...	OMIM:605039
Mucolipidosis Ii Alpha/Beta	Depressed nasal bridge, Myelopathy, Anteverted nares, Death in childhood, Protuberant abdomen	OMIM:252500
Aicardi Syndrome	Optic atrophy, Lateral ventricle dilatation, Optic disc coloboma, Polymicrogyria, Anteverted nare...	OMIM:304050
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Periventricular nodular heterotopia, Midline...	OMIM:603671
Pagod Syndrome	Optic atrophy, Encephalocele, Death in infancy, Abnormality of neuronal migration, Spina bifida, ...	ORPHA:991
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Lissencephaly, Pachygyria, Anteverted nares, Gray matter heterotopia, Agyria, ...	OMIM:247200
Thyroid Ectopia	Constipation, Dysphagia, Abdominal distention	ORPHA:95712
Greenberg Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Neonatal death, Protuberant abdomen, Stillbirth	OMIM:215140
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Abdominal distention	ORPHA:158684
Lethal Kniest-Like Dysplasia	Protuberant abdomen	ORPHA:2347
16Q24.3 Microdeletion Syndrome	Colpocephaly, Periventricular heterotopia, Anteverted nares, Optic nerve hypoplasia	ORPHA:261250
Currarino Syndrome	Gastrointestinal obstruction, Chronic constipation, Abdominal distention	OMIM:176450
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Depressed nasal bridge	OMIM:617563
X-Linked Acrogigantism	Abdominal distention	ORPHA:300373
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Midline defect of the nose, Gray matter heterotopia, Agenesis of corp...	OMIM:236680
Multiple Endocrine Neoplasia Type 2	Diarrhea, Ganglioneuromatosis, Aganglionic megacolon, Constipation, Abdominal distention	ORPHA:653
6Q Terminal Deletion Syndrome	Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra...	ORPHA:75857
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Protuberant abdomen, Short nose	ORPHA:50945
Atelosteogenesis Type Ii	Wide nasal base, Protuberant abdomen	ORPHA:56304
Dyggve-Melchior-Clausen Disease	Recurrent upper respiratory tract infections, Protuberant abdomen	ORPHA:239
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Periventricular heterotopia, Decreased amplitude of sensory ...	OMIM:618733
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Constipation, Abdominal distention	OMIM:218700
Opitz-Kaveggia Syndrome	Choanal atresia, Prominent nose, Hydrocephalus, Gray matter heterotopia, Partial agenesis of the ...	OMIM:305450
Arboleda-Tham Syndrome	Bifid nasal tip, Optic atrophy, Broad nasal tip, Gastroesophageal reflux, Prominent nasal bridge,...	OMIM:616268
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Aplasia of the nose	ORPHA:3186
Orofaciodigital Syndrome I	Wide nasal bridge, Abnormal cortical gyration, Underdeveloped nasal alae, Myelomeningocele, Agene...	OMIM:311200
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Prominent n...	OMIM:210710
Pyknoachondrogenesis	Depressed nasal ridge, Abdominal distention	ORPHA:3003
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Kasabach-Merritt Phenomenon	Abdominal pain, Abdominal distention	ORPHA:2330
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Pachygyria, Gray matter heterotopia, Frontal polymicrogyria, Neonatal death	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, Prominent nose, Abnormality of neuronal migration, Narrow nasal ridge, Pachygyria	OMIM:251300
Mowat-Wilson Syndrome	Wide nasal bridge, Abnormal enteric ganglion morphology, Vomiting, Agenesis of corpus callosum, A...	OMIM:235730
Combined Immunodeficiency-Enteropathy Spectrum	Bloody diarrhea, Abdominal distention	ORPHA:436252
Van Maldergem Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Periventricular nodular heterotopia, Gray matter heter...	OMIM:615546
Glycogen Storage Disease Ia	Intermittent diarrhea, Protuberant abdomen	OMIM:232200
Liver Disease, Severe Congenital	Dependency on parenteral nutrition, Depressed nasal bridge, Hepatic failure, Diarrhea, Vomiting, ...	OMIM:619991
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention	OMIM:619351
Peroxisome Biogenesis Disorder 1A (Zellweger)	Polymicrogyria, Anteverted nares, Death in childhood, 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 nasal bridge, Depressed nasal bridge, Spinal dysraphism, Anteverted nares, Gastrostomy tube ...	ORPHA:96334
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Protuberant abdomen	OMIM:608328
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Inflammation of the large intestine, Diarrhea, Enterocolitis, Protuberant abdomen, Ulc...	ORPHA:79259
Biliary, Renal, Neurologic, And Skeletal Syndrome	Depressed nasal bridge, Gastroesophageal reflux, Lateral ventricle dilatation, Anteverted nares, ...	OMIM:619534
Koolen-De Vries Syndrome	Gray matter heterotopia, Bulbous nose, Prominent nasal bridge, Pear-shaped nose	OMIM:610443
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Broad nasal tip, Prominent nasal bridge	ORPHA:2754
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Leprechaunism	Abdominal distention, Wide nose	ORPHA:508
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex pachy...	ORPHA:98889
Cranioectodermal Dysplasia 1	Wide nasal bridge, Anteverted nares, Hepatic failure, Protuberant abdomen	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
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Depressed nasal bridge, Protuberant abdomen	OMIM:618019
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Gray matter heterotopia	OMIM:620654
Viss Syndrome	Depressed nasal bridge, Gastroesophageal reflux, Hypereosinophilia, Prominent nasal bridge, Chron...	OMIM:619472
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Prominent nose, Recurrent sinusitis, Chronic consti...	OMIM:256040
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Diarrhea, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal inflammation, Abdominal distentio...	ORPHA:95455
Vici Syndrome	Gray matter heterotopia, Depressed nasal bridge, Wide nose, Agenesis of corpus callosum	OMIM:242840
Nijmegen Breakage Syndrome	Depressed nasal bridge, Prominent nose, Prominent nasal bridge, Abnormality of neuronal migration...	ORPHA:647
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Agenesis of corpus callosum, Abdominal distention, Wide nose	ORPHA:93271
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Gray matter heterotopia, Underdeveloped nasal alae, Abnormal autonomic nervous...	ORPHA:453499
Fontaine Progeroid Syndrome	Depressed nasal bridge, Periventricular heterotopia, Death in infancy, Neonatal death, Hydrocepha...	OMIM:612289
Multicystic Dysplastic Kidney	Abdominal distention	ORPHA:1851
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Agenesis of corpus callosum, Gray ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Agenesis of corpus callosum, Gray ...	ORPHA:352665
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration, Optic disc pallor, Prominent nasal bridge	ORPHA:464311
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Optic disc coloboma, Polymicrogyria, Periventricular heterotopia, Partia...	OMIM:615948
Arima Syndrome	Gray matter heterotopia, Optic atrophy, Occipital meningocele	OMIM:243910
Genitopatellar Syndrome	Wide nasal bridge, Prominent nose, Prominent nasal bridge, Periventricular heterotopia, Agenesis ...	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	Thick nasal alae, Depressed nasal bridge, Anteverted nares, Gray matter heterotopia	ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Wide nasal bridge, Lateral ventricle dilatation, Polymicrogyria, Depressed nasal tip, Periventric...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Wide nasal bridge, Optic atrophy, Lateral ventricle dilatation, Polymicrogyria, Depressed nasal t...	ORPHA:261552
Mowat-Wilson Syndrome	Wide nasal bridge, Broad columella, Polymicrogyria, Depressed nasal tip, Periventricular heteroto...	ORPHA:2152
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Kallmann Syndrome	Anosmia, Tremor, 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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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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