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Gene: Fezf1 MGI:1920441

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Fez family zinc finger 1

Synonyms:

Zfp312-like, Fez, 3110069A13Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fezf1 mutations

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

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

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

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

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

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

Disease	Matching phenotypes	Source
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy, Gray matter heterotopia, Dysgyria, Type II...	ORPHA:352682
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria, Wide nasal bridge	OMIM:614870
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Bulbous nose, Simplified gyral pattern, Abnormality of neuronal migration, Gray matte...	OMIM:604317
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Optic atrophy, Gray matter ...	OMIM:615191
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility...	OMIM:613662
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction	OMIM:193250
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting	OMIM:619445
Lissencephaly 6 With Microcephaly	Anteverted nares, Periventricular heterotopia, Partial agenesis of the corpus callosum, Bulbous n...	OMIM:616212
Cap Polyposis	Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Athyreosis	Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Small Bowel Atresia	Abdominal distention, Vomiting, Feeding difficulties	ORPHA:1201
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Protuberant abdomen	ORPHA:221054
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention	OMIM:174050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Prominent nose, Periventricular heterotopia, Partial agenesis of the corpus ca...	OMIM:616171
Qazi-Markouizos Syndrome	Chronic constipation, Torticollis, Prominent nasal bridge, Abdominal distention	ORPHA:3010
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen, Death in infancy	OMIM:277300
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Abdominal distention, Depressed nasal ridge, Short nose	OMIM:613885
Thyroid Hemiagenesis	Abdominal distention, Constipation	ORPHA:95719
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea	OMIM:606824
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth	OMIM:600972
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Nausea, Abdominal distention, Recurrent infection of the gastrointestin...	ORPHA:51890
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Folinic Acid-Responsive Seizures	Abdominal distention, Optic atrophy, Dystonia	ORPHA:79097
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, 4-layered lissencephaly, Wide nasal bridge, Abnormality of neuronal migration, Microli...	ORPHA:89844
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Feeding difficulties in infancy, Abdominal distention, Constipation, Prot...	ORPHA:226313
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain	OMIM:277320
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Leber Congenital Amaurosis	Encephalocele, Abnormal optic disc morphology, Abnormality of neuronal migration	ORPHA:65
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Polymicrogyria, Abnormal cortical gyration	OMIM:619602
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Death in infancy, Abdominal distention, Death in childhood	OMIM:619423
Achondrogenesis Type 1A	Abdominal distention, Short nose, Anteverted nares	ORPHA:93299
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Cleft ala nasi, Agenesis of corpus callosum	OMIM:164180
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Short nose	ORPHA:1895
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Neonatal death	OMIM:608104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Partial...	OMIM:614643
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Hemimegalencephaly	Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea	ORPHA:103910
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure	ORPHA:75233
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention, Depressed nasal bridge, Anteverted nares	OMIM:618528
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Depressed nasal bridge, Anteverted nares, Protuberant abdomen	OMIM:618272
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Aganglionic megacolon, Abdominal distention, Diarrhea, Malnutrition...	ORPHA:95427
Porphyria Due To Ala Dehydratase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea	ORPHA:100924
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Feeding difficulties in infancy, Abdominal distention, Intestinal pseudo-obstruction, Vomiting	OMIM:300048
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V...	OMIM:613070
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention	ORPHA:369
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Abnormality of neuronal migration, Holopros...	ORPHA:93274
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria, Facial diplegia	ORPHA:370980
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di...	OMIM:155310
Ovarian Fibroma	Abdominal distention, Abdominal pain	ORPHA:314473
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Death in infancy, Feeding difficulties	OMIM:620275
Congenital Tufting Enteropathy	Choanal atresia, Abdominal distention, Chronic diarrhea, Secretory diarrhea, Optic disc coloboma,...	ORPHA:92050
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Lead Poisoning	Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Constipation, Vomiting, Abdominal cr...	ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Pachygyria, Abnormality of neuronal migration	OMIM:608840
Fibrochondrogenesis 2	Short nose, Anteverted nares, Protuberant abdomen	OMIM:614524
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Abnormality of neuronal migration, Macr...	ORPHA:899
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Athetosis, Constipation, Vomiting, Protuberant abdomen	OMIM:257200
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Optic disc coloboma, Secretory diarrhea, Choanal atresia	OMIM:270420
Desmosterolosis	Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose, Hydrocephalus, Abnor...	ORPHA:35107
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Depressed nasal ridge, Exencephaly, Abnormality of neu...	ORPHA:2211
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Gray matter hetero...	ORPHA:370959
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction velocity, Optic...	ORPHA:309256
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention	ORPHA:1876
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Dystonia, Intention tremor	ORPHA:309263
Joubert Syndrome	Encephalocele, Anteverted nares, Aganglionic megacolon, Prominent nasal bridge, Hydrocephalus, Ab...	ORPHA:475
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Bulbous nose, Lateral vent...	OMIM:614105
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Depressed nasal bridge	ORPHA:85166
Neonatal Adrenoleukodystrophy	Optic atrophy, Wide nasal bridge, Anteverted nares, Abnormality of neuronal migration	ORPHA:44
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention	OMIM:619362
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Tremor, Abdominal distention, Gastrointestinal dysmotility, ...	ORPHA:2131
Periventricular Nodular Heterotopia 7	Optic disc pallor, Anteverted nares, Gray matter heterotopia, Periventricular nodular heterotopia...	OMIM:617201
Ovarian Fibrothecoma	Abdominal distention, Abdominal pain	ORPHA:314478
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen	OMIM:617102
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Tetrasomy 18P	Short nose, Abnormality of neuronal migration	ORPHA:3307
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Protuberant abdomen	OMIM:613330
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Ab...	ORPHA:2318
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Wide nose, Anteverted nares	OMIM:619694
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Dys...	ORPHA:309271
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Torticollis, Anorexia, Abdominal distention, Episodic abdominal pain	ORPHA:370348
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration	ORPHA:2481
Meckel Syndrome 14	Occipital encephalocele, Anteverted nares, Abdominal distention, Holoprosencephaly, Protuberant a...	OMIM:619879
Thyroid Hypoplasia	Abdominal distention, Constipation	ORPHA:95720
Nephrotic Syndrome, Type 1	Abdominal distention, Gastroesophageal reflux	OMIM:256300
Vici Syndrome	Death in infancy, Optic atrophy, Depressed nasal tip, Gray matter heterotopia, Agenesis of corpus...	ORPHA:1493
Necrotizing Enterocolitis	Abdominal distention, Diarrhea, Vomiting, Bloody diarrhea	ORPHA:391673
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Depressed nasal bridge	ORPHA:2655
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Hepatic failure, Wide nasal bridge, Death in infancy	OMIM:235255
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Tremor, Abdominal distention, Diarrhea, Ileus, Pseudobulbar ...	ORPHA:79276
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
16P13.11 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Abnormality of neuronal migration, Holoprosencephaly, S...	ORPHA:261236
Microvillus Inclusion Disease	Abdominal distention, Diarrhea	ORPHA:2290
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting	ORPHA:71
Familial Visceral Myopathy	Aganglionic megacolon, Abdominal distention, Anteverted nares, Prominent nasal bridge	ORPHA:2604
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:521219
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Protuberant abdomen	OMIM:187600
Schneckenbecken Dysplasia	Short nose, Stillbirth, Protuberant abdomen	OMIM:269250
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:64739
Holoprosencephaly 14	Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heter...	OMIM:619895
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Abdominal distention, Death in infancy, Hypoperistalsis	ORPHA:2241
3C Syndrome	Death in infancy, Depressed nasal bridge, Hydrocephalus, Optic atrophy, Wide nasal bridge, Abnorm...	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	Abdominal distention, Depressed nasal bridge, Broad nasal tip	ORPHA:1830
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:93552
Wilson Disease	Acute hepatic failure, Limb dystonia, Tremor, Abdominal distention, Decreased nerve conduction ve...	OMIM:277900
Peroxisome Biogenesis Disorder 13A (Zellweger)	Depressed nasal bridge, Wide nasal bridge, Gray matter heterotopia, Neonatal death, Polymicrogyria	OMIM:614887
Sepsis In Premature Infants	Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali...	ORPHA:90051
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Colpocephaly, ...	OMIM:619833
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Diarrhea, Vomiting, Protuberant abdomen, Hepatic failure	OMIM:278000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Depressed nasal bridge, Protuberant abdomen	OMIM:151210
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Wide nasal bridge, Anteverted nares, Abnormality of neuronal migration	ORPHA:2518
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea	ORPHA:100085
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Stillbirth, Protuberant abdomen, Short nose	OMIM:228520
Donohue Syndrome	Abdominal distention	OMIM:246200
Radio-Tartaglia Syndrome	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Wide nasal bridge...	OMIM:619312
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Depressed nasal bridge, Anteverted nares, Stillbirth, Protuberant abdom...	OMIM:200600
Celiac Disease, Susceptibility To, 1	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	OMIM:212750
Alkuraya-Kucinskas Syndrome	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia, Lissencephaly, ...	OMIM:617822
Achondrogenesis, Type Ii	Stillbirth, Protuberant abdomen	OMIM:200610
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Abnormal autonomic nervous syst...	ORPHA:85443
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:157
Gallbladder Neuroendocrine Tumor	Abdominal distention, Nausea, Anorexia, Episodic abdominal pain	ORPHA:100086
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Depressed nasal bridge, Protuberant abdomen	ORPHA:457485
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis	OMIM:215600
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Diaphanospondylodysostosis	Depressed nasal bridge, Short nose, Depressed nasal ridge, Protuberant abdomen	OMIM:608022
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Short columella	OMIM:619775
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:275761
Letterer-Siwe Disease	Abdominal distention	OMIM:246400
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Vomiting, Dys...	OMIM:256810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Hepatic failure, Broad nasal tip	ORPHA:1655
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Pachygyria, Depressed nasal ridge, Abnormality of neuro...	ORPHA:2671
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Chronic diarrhea, Vomiting, Abdominal distention	OMIM:620233
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Depressed nasal bridge, Wide nasal bridge, Feeding difficulties, Lateral ventricle dilatation, Pr...	OMIM:619479
Smith-Lemli-Opitz Syndrome	Death in infancy, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Abdominal dist...	OMIM:270400
Acromelic Frontonasal Dysostosis	Encephalocele, Optic nerve hypoplasia, Broad nasal tip, Bifid nasal tip, Wide nasal bridge, Gray ...	OMIM:603671
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Fanconi-Bickel Syndrome	Abdominal distention, Hepatic failure	ORPHA:2088
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Atelosteogenesis, Type I	Encephalocele, Depressed nasal bridge, Stillbirth, Protuberant abdomen, Neonatal death, Short nose	OMIM:108720
Hurler Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Prot...	OMIM:607014
Neu-Laxova Syndrome 2	Protuberant abdomen, Depressed nasal ridge, Spina bifida	OMIM:616038
Sialuria	Wide nasal bridge, Protuberant abdomen	OMIM:269921
Schimke Immunoosseous Dysplasia	Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen	OMIM:242900
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Depressed nasal bridge	ORPHA:1860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Bulbous nose, Abnormality of neuronal migration, Nasal congestion, Polymicrogyr...	OMIM:608836
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Bulbous nose, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum	OMIM:618476
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Protuberant abdomen	OMIM:277440
Man1B1-Cdg	Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Underdeveloped nasolab...	ORPHA:397941
Gaucher Disease, Type Ii	Death in infancy, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia	OMIM:230900
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Optic disc colo...	ORPHA:1454
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:228308
Castleman Disease	Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain	ORPHA:160
Hereditary Spherocytosis	Abdominal distention, Abdominal pain	ORPHA:822
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Primary Biliary Cholangitis	Abdominal distention, Orthostatic hypotension, Hepatic failure, Gastrointestinal inflammation	ORPHA:186
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Diarrhea, Colitis, Abdominal pain	ORPHA:309031
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Hepatic failure, Death in infancy	OMIM:617156
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	ORPHA:93352
Coffin-Lowry Syndrome	Death in early adulthood, Wide nose, Depressed nasal bridge, Anteverted nares, Optic atrophy, Abn...	ORPHA:192
Fraser Syndrome 2	Abdominal distention, Wide nose, Underdeveloped nasal alae	OMIM:617666
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae	OMIM:608624
Holoprosencephaly	Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Hydrocep...	ORPHA:2162
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite	OMIM:227810
Opsismodysplasia	Depressed nasal bridge, Short nose, Anteverted nares, Protuberant abdomen	OMIM:258480
Idiopathic Hypereosinophilic Syndrome	Eosinophilia, Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diar...	ORPHA:3260
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly, Protuberant abdomen, Neonatal death	OMIM:269860
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Protuberant abdomen	OMIM:264700
Cerebrofacioarticular Syndrome	Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide nasal bridge, Gray matter he...	ORPHA:314679
Thyroid Ectopia	Abdominal distention, Constipation	ORPHA:95712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Optic nerve dysplasia, Anenc...	OMIM:615287
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Recurrent upper respiratory tract infections, Protuberant abdomen	OMIM:253220
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Anteverted nares, Periventricular heterotopia, Prominent nasal tip, Conve...	OMIM:618870
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Prominent nasal bridge, Periventricular heterotopia, S...	ORPHA:468631
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Abdominal distention	ORPHA:79403
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Wide nasal bridge, Gray matter heterotopi...	OMIM:601390
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Depressed nasal bridge, Anteverted nares	OMIM:618797
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	Aplasia of the nasal bone, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Hol...	OMIM:618820
Bohring-Opitz Syndrome	Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Gray matter heterotopia, Agenesis of...	OMIM:605039
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Meningocele, Optic atrophy, Abnormality of neurona...	ORPHA:991
Aicardi Syndrome	Anteverted nares, Spina bifida, Partial agenesis of the corpus callosum, Optic disc coloboma, Opt...	OMIM:304050
16Q24.3 Microdeletion Syndrome	Colpocephaly, Anteverted nares, Optic nerve hypoplasia, Periventricular heterotopia	ORPHA:261250
Lethal Kniest-Like Dysplasia	Protuberant abdomen	ORPHA:2347
Mucopolysaccharidosis Type 3	Adenoiditis, Hydrocephalus, Optic atrophy, Constipation, Protuberant abdomen, Dysphagia, Intermit...	ORPHA:581
Miller-Dieker Lissencephaly Syndrome	Anteverted nares, Wide nasal bridge, Gray matter heterotopia, Lissencephaly, Short nose, Pachygyr...	OMIM:247200
Greenberg Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Stillbirth, Protuberant abdomen, Neonatal death	OMIM:215140
Mucolipidosis Ii Alpha/Beta	Depressed nasal bridge, Anteverted nares, Myelopathy, Protuberant abdomen, Death in childhood	OMIM:252500
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Vomiting	ORPHA:158684
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Depressed nasal bridge	OMIM:617563
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abdominal distention, Diarrhea, Constipation, Ganglioneuromatosis	ORPHA:653
X-Linked Acrogigantism	Abdominal distention	ORPHA:300373
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Midline defect of t...	OMIM:236680
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Currarino Syndrome	Gastrointestinal obstruction, Chronic constipation, Abdominal distention	OMIM:176450
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Agenesis o...	OMIM:618733
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Short nose, Anteverted nares, Protuberant abdomen	ORPHA:50945
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Atelosteogenesis Type Ii	Wide nasal base, Protuberant abdomen	ORPHA:56304
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Constipation	OMIM:218700
Opitz-Kaveggia Syndrome	Choanal atresia, Prominent nose, Partial agenesis of the corpus callosum, Hydrocephalus, Gray mat...	OMIM:305450
Arboleda-Tham Syndrome	Dystonia, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Optic atrophy, Feeding diffic...	OMIM:616268
Dyggve-Melchior-Clausen Disease	Recurrent upper respiratory tract infections, Protuberant abdomen	ORPHA:239
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Aplasia of the nose, Abnormality of neuronal migration	ORPHA:3186
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Hypocalcemic Vitamin D-Dependent Rickets	Protuberant abdomen	ORPHA:289157
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Anteverted nares, Abnormal cortical gyration, Prominent nose, Partial agenesis ...	OMIM:210710
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Frontal polymicrogyria, Pachygyria, Gray matter heterotopia	OMIM:620024
Orofaciodigital Syndrome I	Abnormal cortical gyration, Underdeveloped nasal alae, Myelomeningocele, Hydrocephalus, Wide nasa...	OMIM:311200
Kasabach-Merritt Syndrome	Abdominal distention, Abdominal pain	ORPHA:2330
Pyknoachondrogenesis	Abdominal distention, Depressed nasal ridge	ORPHA:3003
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention	OMIM:271520
Combined Immunodeficiency-Enteropathy Spectrum	Abdominal distention, Bloody diarrhea	ORPHA:436252
Van Maldergem Syndrome 2	Depressed nasal bridge, Subcortical band heterotopia, Wide nasal bridge, Gray matter heterotopia,...	OMIM:615546
Mowat-Wilson Syndrome	Aganglionic megacolon, Abdominal distention, Wide nasal bridge, Constipation, Vomiting, Prominent...	OMIM:235730
Liver Disease, Severe Congenital	Depressed nasal bridge, Narrow nasal ridge, Abdominal distention, Diarrhea, Malnutrition, Depende...	OMIM:619991
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention	OMIM:619351
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Anteverted nares, Gray matter heterotopia, Death in childhood, Polymicrogyria	OMIM:214100
Glycogen Storage Disease Ia	Intermittent diarrhea, Protuberant abdomen	OMIM:232200
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Depressed nasal bridge	ORPHA:26791
Mucolipidosis Type Ii	Depressed nasal bridge, Protuberant abdomen, Gastrostomy tube feeding in infancy	ORPHA:576
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nose, Miscarriage, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Feeding diff...	ORPHA:96334
Orofaciodigital Syndrome Type 6	Prominent nasal bridge, Abnormality of neuronal migration, Broad nasal tip	ORPHA:2754
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Protuberant abdomen	OMIM:608328
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anteverted nares, Depressed nasal bridge, Aqueductal stenosis, Abdominal distention, Hydrocephalu...	OMIM:619534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Diarrhea, Enterocolitis, Ulcerative colitis, Inflammation of the large intestine, Prot...	ORPHA:79259
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Atresia Of Urethra	Abdominal distention	ORPHA:105
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migrati...	ORPHA:98889
Leprechaunism	Abdominal distention, Wide nose	ORPHA:508
Glycogen Storage Disease Ib	Inflammation of the large intestine, Protuberant abdomen	OMIM:232220
Koolen-De Vries Syndrome	Pear-shaped nose, Gray matter heterotopia, Bulbous nose, Prominent nasal bridge	OMIM:610443
Cranioectodermal Dysplasia 1	Hepatic failure, Anteverted nares, Wide nasal bridge, Protuberant abdomen	OMIM:218330
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
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Gastrointestinal inflammatio...	ORPHA:95455
Proteasome-Associated Autoinflammatory Syndrome 1	Prominent nose, Recurrent upper respiratory tract infections, Death in adolescence, Chronic const...	OMIM:256040
Vici Syndrome	Gray matter heterotopia, Depressed nasal bridge, Agenesis of corpus callosum, Wide nose	OMIM:242840
Viss Syndrome	Depressed nasal bridge, Prominent nasal bridge, Abdominal distention, Chronic diarrhea, Hypereosi...	OMIM:619472
Nijmegen Breakage Syndrome	Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Abnormality of neuronal migration...	ORPHA:647
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abdominal distention, Depressed nasal bridge, Agenesis of corpus callosum, Wide nose	ORPHA:93271
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Abnormal autonomic nervous system physiology, Wide nasal bridge, Underde...	ORPHA:453499
Fontaine Progeroid Syndrome	Death in infancy, Depressed nasal bridge, Periventricular heterotopia, Hydrocephalus, Gray matter...	OMIM:612289
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Underdeveloped nasal alae, Broad nasal tip, Wide nasal bridge, Gray matte...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Underdeveloped nasal alae, Broad nasal tip, Wide nasal bridge, Gray matte...	ORPHA:352665
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Periventricular heterotopia, Partial agenesis of the corpus callosum, Op...	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	Gray matter heterotopia, Occipital meningocele, Optic atrophy	OMIM:243910
Genitopatellar Syndrome	Wide nose, Prominent nasal bridge, Prominent nose, Periventricular heterotopia, Wide nasal bridge...	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	Aganglionic megacolon, Periventricular heterotopia, Wide nasal bridge, Depressed nasal tip, Later...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Periventricular heterotopia, Optic atrophy, Wide nasal bridge, Depressed n...	ORPHA:261552
Mowat-Wilson Syndrome	Aganglionic megacolon, Periventricular heterotopia, Wide nasal bridge, Depressed nasal tip, Promi...	ORPHA:2152
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Kallmann Syndrome	Tremor, Hyposmia, 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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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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