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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 (322 diseases)

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

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

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

Disease	Matching phenotypes	Source
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ...	OMIM:300067
Congenital Sucrase-Isomaltase Deficiency	Abdominal colic, Vomiting, Diarrhea, Abdominal distention	ORPHA:35122
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu...	OMIM:604213
Trehalase Deficiency	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:103909
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr...	ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Lissencephaly 3	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ...	OMIM:611603
Lissencephaly 1	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:607432
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital...	ORPHA:352682
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Vomiting, Abdominal distention	ORPHA:313906
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Band Heterotopia	Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi...	OMIM:600348
Hirschsprung Disease, Susceptibility To, 1	Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o...	OMIM:142623
Colonic Atresia	Abdominal distention	OMIM:303650
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, Diarrhea, Projectile vomiting, Abdominal distention, Feeding d...	OMIM:620045
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abdominal pain, Abdominal distention, Dyspepsia, Nausea, Chronic diarrhea	ORPHA:103907
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Neonatal death, Wide nasal bridge, Colpocephaly	OMIM:614870
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Agyria, Pachygyria	ORPHA:1084
Isolated Polycystic Liver Disease	Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G...	ORPHA:2924
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Periventricular nodular heterotopia	OMIM:608097
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
Primary Peritoneal Carcinoma	Abdominal pain, Constipation, Abdominal distention, Nausea and vomiting	ORPHA:168829
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatic failure, Feeding difficulties, Abdominal distention, Death in infancy	OMIM:618528
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration	ORPHA:945
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha...	OMIM:604317
Lissencephaly 5	Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Subcortical band he...	OMIM:615191
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal pain, Abdominal distention, Malnutrition, Gastrointestinal dysmotility, Constipation, I...	OMIM:613662
Volvulus Of Midgut	Neonatal intestinal obstruction, Constipation, Abdominal distention	OMIM:193250
Subependymal Nodular Heterotopia	Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia...	ORPHA:101030
Diarrhea 12, With Microvillus Atrophy	Abdominal distention, Vomiting, Secretory diarrhea, Dependency on parenteral nutrition	OMIM:619445
Primary Effusion Lymphoma	Abdominal pain, Abdominal distention	ORPHA:48686
Cap Polyposis	Diarrhea, Abdominal pain, Abdominal distention, Constipation, Hematochezia	ORPHA:160148
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial...	OMIM:616212
Athyreosis	Feeding difficulties, Constipation, Abdominal distention	ORPHA:95713
Enterocolitis	Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia	OMIM:226150
Atresia Of Small Intestine	Feeding difficulties, Vomiting, Abdominal distention	ORPHA:1201
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Protuberant abdomen	ORPHA:221054
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Optic atrophy, Simplified gyral pattern, Communicating hydrocephalus, Li...	OMIM:615219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Prominent nose, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Partial age...	OMIM:616171
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention	OMIM:174050
Thyroid Hemiagenesis	Constipation, Abdominal distention	ORPHA:95719
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Abdominal distention, Protuberant abdomen	OMIM:277300
Meckel Syndrome, Type 8	Encephalocele, Depressed nasal ridge, Abdominal distention, Short nose, Occipital encephalocele	OMIM:613885
Qazi-Markouizos Syndrome	Chronic constipation, Prominent nasal bridge, Torticollis, Abdominal distention	ORPHA:3010
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Projectile vomiting, Abdominal distention, Chronic d...	OMIM:615237
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea	OMIM:606824
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appetite, Decreas...	ORPHA:298
Achondrogenesis, Type Ib	Stillbirth, Abdominal distention	OMIM:600972
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Abnormal cortical gyration, Polymicrogyria	OMIM:619602
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia, Abdominal pain, Abdominal distention, Anorexia, Nausea, Recurrent infection of the gas...	ORPHA:51890
Autosomal Recessive Primary Microcephaly	Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria	ORPHA:2512
Folinic Acid-Responsive Seizures	Optic atrophy, Dystonia, Abdominal distention	ORPHA:79097
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Depressed nasal bridge, Constipation, Prot...	ORPHA:226313
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Abnormality of neuronal migration, Wide nasal bridge, 4-layered lissencephaly, Microli...	ORPHA:89844
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Abdominal pain, Abdominal distention, Gastroparesis	OMIM:277320
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Leber Congenital Amaurosis	Abnormal optic disc morphology, Encephalocele, Abnormality of neuronal migration	ORPHA:65
Achondrogenesis Type 1A	Anteverted nares, Abdominal distention, Short nose	ORPHA:93299
Peritoneal Cystic Mesothelioma	Abdominal pain, Constipation, Abdominal distention	ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Death in childhood, Abdominal distention, Death in infancy	OMIM:619423
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Cleft ala nasi	OMIM:164180
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus, Short nose, Anteverted nares, Choanal atresia	ORPHA:1895
Congenital Disorder Of Glycosylation, Type Ih	Vomiting, Diarrhea, Death in infancy, Abdominal distention, Decreased liver function, Neonatal death	OMIM:608104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Agyria, Hydroc...	OMIM:614643
Hemimegalencephaly	Gray matter heterotopia, Optic atrophy, Pachygyria, Abnormal neuron morphology, Polymicrogyria	ORPHA:99802
Permanent Congenital Hypothyroidism	Feeding difficulties, Constipation, Abdominal distention	ORPHA:226292
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Abdominal distention	ORPHA:103910
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Ileus	ORPHA:168811
Chiari Malformation Type Ii	Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen...	OMIM:207950
Wolman Disease	Malnutrition, Hepatic failure, Abdominal distention, Nausea and vomiting	ORPHA:75233
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Glucose-Galactose Malabsorption	Vomiting, Diarrhea, Abdominal distention, Malnutrition, Hyperactive bowel sounds	ORPHA:35710
Secondary Short Bowel Syndrome	Vomiting, Enterocolitis, Diarrhea, Small intestinal dysmotility, Aganglionic megacolon, Abdominal...	ORPHA:95427
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Depressed nasal bridge, Anteverted nares, Protuberant abdomen	OMIM:618272
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Feeding difficulties in infancy, Vomiting, Intestinal pseudo-obstruction, Abdominal distention	OMIM:300048
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Abdominal pain, Episodic vomiting, Abdominal distention, Nausea, Constipation	ORPHA:100924
Liver Failure, Infantile, Transient	Vomiting, Death in infancy, Feeding difficulties in infancy, Abdominal distention, Acute hepatic ...	OMIM:613070
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention	ORPHA:369
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Depressed nasal bridge, Holopros...	ORPHA:93274
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Congenital Muscular Dystrophy Without Intellectual Disability	Facial diplegia, Gray matter heterotopia, Pachygyria	ORPHA:370980
Gonadoblastoma	Abdominal pain, Abdominal distention	ORPHA:206484
Visceral Myopathy 1	Vomiting, Diarrhea, Aganglionic megacolon, Abdominal pain, Abdominal distention, Malnutrition, Co...	OMIM:155310
Ovarian Fibroma	Abdominal pain, Abdominal distention	ORPHA:314473
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Optic disc coloboma, Secretory diarrhea, Abdominal distention, Choanal atresia	OMIM:270420
Lead Poisoning	Vomiting, Abdominal cramps, Abdominal pain, Abnormality of the autonomic nervous system, Abdomina...	ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria, Facial palsy	OMIM:608840
Congenital Tufting Enteropathy	Vomiting, Abdominal distention, Secretory diarrhea, Chronic diarrhea, Optic disc coloboma, Choana...	ORPHA:92050
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Vomiting, Nausea, Abdominal distention	ORPHA:90003
Walker-Warburg Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Optic atrophy, Macrogyria, Hydroce...	ORPHA:899
Fibrochondrogenesis 2	Short nose, Anteverted nares, Protuberant abdomen	OMIM:614524
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Abnormality of neuronal migration, Depressed nasal ridge, Wide nasal ...	ORPHA:2211
Congenital Hypothyroidism	Depressed nasal ridge, Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Anos...	ORPHA:442
Desmoplastic Small Round Cell Tumor	Ileus, Abdominal pain, Abdominal distention, Nausea and vomiting	ORPHA:83469
Niemann-Pick Disease, Type A	Vomiting, Feeding difficulties in infancy, Constipation, Athetosis, Protuberant abdomen	OMIM:257200
Desmosterolosis	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Polymic...	ORPHA:35107
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Dystonia, Intention tremor	ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction ...	ORPHA:309256
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Abdominal distention, Gastroparesis	ORPHA:1876
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Type II lissenceph...	ORPHA:370959
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Abdominal distention	OMIM:619365
Joubert Syndrome	Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte...	ORPHA:475
Platyspondylic Dysplasia, Torrance Type	Depressed nasal bridge, Abdominal distention	ORPHA:85166
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation, Short nose, Depressed nasal bridge, An...	OMIM:614105
Neonatal Adrenoleukodystrophy	Anteverted nares, Optic atrophy, Abnormality of neuronal migration, Wide nasal bridge	ORPHA:44
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention	OMIM:619362
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen	OMIM:617102
Ovarian Fibrothecoma	Abdominal pain, Abdominal distention	ORPHA:314478
Alternating Hemiplegia Of Childhood	Vomiting, Diarrhea, Abnormal autonomic nervous system physiology, Choreoathetosis, Abdominal dist...	ORPHA:2131
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Short nose, Anteverted nares, Optic...	OMIM:617201
Tetrasomy 18P	Abnormality of neuronal migration, Short nose	ORPHA:3307
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Abdominal distention, Decrea...	ORPHA:309271
Pancreatoblastoma	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:677
Joubert Syndrome With Oculorenal Defect	Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Anteverte...	ORPHA:2318
Peripheral Primitive Neuroectodermal Tumor	Episodic abdominal pain, Nausea and vomiting, Torticollis, Abdominal distention, Anorexia	ORPHA:370348
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Death in infancy	ORPHA:2481
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Protuberant abdomen	OMIM:613330
Vici Syndrome	Gray matter heterotopia, Optic atrophy, Death in infancy, Depressed nasal tip, Agenesis of corpus...	ORPHA:1493
Hereditary Fructose Intolerance	Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Chronic hepatic failure, Nausea, Consti...	ORPHA:469
Meckel Syndrome 14	Abdominal distention, Holoprosencephaly, Anteverted nares, Occipital encephalocele, Protuberant a...	OMIM:619879
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Gray matter heterotopia, Anteverted nares	OMIM:619694
Fraser Syndrome 2	Underdeveloped nasal alae, Abdominal distention	OMIM:617666
Thanatophoric Dysplasia	Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus	ORPHA:2655
Necrotizing Enterocolitis	Bloody diarrhea, Vomiting, Diarrhea, Abdominal distention	ORPHA:391673
Thyroid Hypoplasia	Constipation, Abdominal distention	ORPHA:95720
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Abdominal distention	OMIM:256300
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Polyembryoma	Abdominal pain, Abdominal distention	ORPHA:180229
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Wide nasal bridge, Abdominal distention, Death in infancy	OMIM:235255
Mirizzi Syndrome	Vomiting, Abdominal colic, Abdominal pain, Abdominal distention, Anorexia, Nausea	ORPHA:521219
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Protuberant abdomen	OMIM:187600
Chylomicron Retention Disease	Vomiting, Diarrhea, Abdominal distention	ORPHA:71
Microvillus Inclusion Disease	Diarrhea, Abdominal distention	ORPHA:2290
Acute Intermittent Porphyria	Diarrhea, Nausea and vomiting, Pseudobulbar paralysis, Abdominal pain, Abdominal distention, Trem...	ORPHA:79276
Familial Visceral Myopathy	Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Abdominal distention	ORPHA:2604
Schneckenbecken Dysplasia	Short nose, Stillbirth, Protuberant abdomen	OMIM:269250
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Short nose, Depressed nasal bridge, Holoprosencephaly, Antever...	ORPHA:261236
Ovarian Hyperstimulation Syndrome	Abdominal pain, Nausea, Abdominal distention, Nausea and vomiting	ORPHA:64739
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia, Aqueductal stenosis, Proboscis, Hydrocephal...	OMIM:619895
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Hypoperistalsis, Abdominal distention, Nausea and vomiting	ORPHA:2241
3C Syndrome	Abnormality of neuronal migration, Optic atrophy, Wide nasal bridge, Death in infancy, Hydrocepha...	ORPHA:7
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia	OMIM:618974
Colonic Atresia	Abdominal distention	ORPHA:1198
Schimke Immuno-Osseous Dysplasia	Depressed nasal bridge, Broad nasal tip, Abdominal distention	ORPHA:1830
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:93552
Wilson Disease	Hepatic failure, Vomiting, Hyposmia, Limb dystonia, Hand tremor, Abdominal distention, Decreased ...	OMIM:277900
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Wide nasal bridge, Depressed nasal bridge, Neonatal death, Polymicrogyria	OMIM:614887
Primary Hepatic Neuroendocrine Carcinoma	Episodic abdominal pain, Diarrhea, Abdominal distention, Anorexia, Nausea	ORPHA:100085
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Sepsis In Premature Infants	Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdomina...	ORPHA:90051
Gallbladder Neuroendocrine Tumor	Episodic abdominal pain, Anorexia, Abdominal distention, Nausea	ORPHA:100086
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Anteverted nares, Optic atrophy, Abnormality of neuronal migration, Wide nasal bridge	ORPHA:2518
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia, Optic atrophy, Hydrocephalus, Short nose, Depressed nasal bridge, Co...	OMIM:619833
Lysosomal Acid Lipase Deficiency	Hepatic failure, Vomiting, Diarrhea, Death in infancy, Acute hepatic failure, Protuberant abdomen	OMIM:278000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Depressed nasal bridge, Stillbirth, Protuberant abdomen	OMIM:151210
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria	ORPHA:255138
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Radio-Tartaglia Syndrome	Gray matter heterotopia, Wide nasal bridge, Prominent nasal tip, Depressed nasal bridge, Antevert...	OMIM:619312
Fibrochondrogenesis 1	Short nose, Depressed nasal bridge, Stillbirth, Anteverted nares, Protuberant abdomen	OMIM:228520
Donohue Syndrome	Abdominal distention	OMIM:246200
Achondrogenesis, Type Ia	Short nose, Hypoplastic nasal bridge, Depressed nasal bridge, Anteverted nares, Stillbirth, Protu...	OMIM:200600
Al Amyloidosis	Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia,...	ORPHA:85443
Achondrogenesis, Type Ii	Stillbirth, Protuberant abdomen	OMIM:200610
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Hydrocephalus, Lissencephaly, Short nose, Depressed nasal bridge, Anteve...	OMIM:617822
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite	OMIM:227810
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi...	ORPHA:157
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Celiac Disease, Susceptibility To, 1	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	OMIM:212750
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis	OMIM:215600
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Depressed nasal bridge, Protuberant abdomen	ORPHA:457485
Diaphanospondylodysostosis	Short nose, Depressed nasal bridge, Depressed nasal ridge, Protuberant abdomen	OMIM:608022
Lysosomal Acid Lipase Deficiency	Hepatic failure, Vomiting, Diarrhea, Nausea and vomiting, Abdominal pain, Abdominal distention, M...	ORPHA:275761
Neu-Laxova Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Depressed nasal ridge, Spina bifid...	ORPHA:2671
Letterer-Siwe Disease	Abdominal distention	OMIM:246400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Vomiting, Diarrhea, Reye syndrome-like episodes, Abdominal distention, Acute hep...	OMIM:256810
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Galloway-Mowat Syndrome	Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Short columella, Partial agenesis of the corpus callosum, Polymicrogyria	OMIM:619775
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Encephalocele, Wide nasal bridge, Bifid nose, Periventricular nodular he...	OMIM:603671
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Broad nasal tip, Abdominal distention	ORPHA:1655
Smith-Lemli-Opitz Syndrome	Gastroesophageal reflux, Vomiting, Poor suck, Wide nasal bridge, Death in infancy, Aganglionic me...	OMIM:270400
Fanconi-Bickel Syndrome	Hepatic failure, Abdominal distention	ORPHA:2088
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Abdominal distention	OMIM:214700
Atelosteogenesis, Type I	Encephalocele, Short nose, Depressed nasal bridge, Stillbirth, Neonatal death, Protuberant abdomen	OMIM:108720
Hurler Syndrome	Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Prot...	OMIM:607014
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Death in infancy, Nasal congestion, Bulbous nose, Agenesis of ...	OMIM:608836
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Depressed nasal bridge, Hydrocephalus	ORPHA:1860
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Tube feeding, Wide nasal bridge, Lateral ventricle dilatation, Depressed nasal bridge, Feeding di...	OMIM:619479
Schimke Immunoosseous Dysplasia	Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Protuberant abdomen	OMIM:242900
Sialuria	Wide nasal bridge, Protuberant abdomen	OMIM:269921
Neu-Laxova Syndrome 2	Spina bifida, Depressed nasal ridge, Protuberant abdomen	OMIM:616038
Man1B1-Cdg	Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Underdeveloped nasolab...	ORPHA:397941
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Optic atrophy, Hydrocephalus, Bulbous nose, Agenesis of corpus callosum	OMIM:618476
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Protuberant abdomen	OMIM:277440
Gaucher Disease, Type Ii	Gastroesophageal reflux, Death in infancy, Dysphagia, Feeding difficulties, Protuberant abdomen	OMIM:230900
Castleman Disease	Abdominal pain, Intestinal obstruction, Abdominal distention, Nausea and vomiting	ORPHA:160
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Hydrocephalus, Anteverted nares, Occipital encephalocele, Opti...	ORPHA:1454
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi...	ORPHA:228308
Hereditary Spherocytosis	Abdominal pain, Abdominal distention	ORPHA:822
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Primary Biliary Cholangitis	Orthostatic hypotension, Hepatic failure, Abdominal distention, Gastrointestinal inflammation	ORPHA:186
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Diarrhea, Abdominal distention, Colitis	ORPHA:309031
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Coffin-Lowry Syndrome	Wide nose, Abnormality of neuronal migration, Optic atrophy, Depressed nasal bridge, Death in ear...	ORPHA:192
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Abdominal distention, Death in infancy	OMIM:617156
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	ORPHA:93352
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Holoprosencephaly	Absent nares, Aplasia/Hypoplasia involving the nose, Spinal dysraphism, Encephalocele, Depressed ...	ORPHA:2162
Opsismodysplasia	Short nose, Depressed nasal bridge, Anteverted nares, Protuberant abdomen	OMIM:258480
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Underdeveloped nasal alae, Depressed nasal bridge, Gray matter heterotopia, Anteverted nares	OMIM:608624
Idiopathic Hypereosinophilic Syndrome	Vomiting, Chronic diarrhea, Feeding difficulties in infancy, Abdominal pain, Abdominal distention...	ORPHA:3260
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Protuberant abdomen	OMIM:264700
Thyroid Ectopia	Constipation, Abdominal distention	ORPHA:95712
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Bilateral choanal atresia/stenosis, Wide nasal bridge, Dysplastic corpus...	ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydroce...	OMIM:615287
Short-Rib Thoracic Dysplasia 12	Anencephaly, Hydrocephalus, Holoprosencephaly, Neonatal death, Protuberant abdomen	OMIM:269860
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Convex nasal ridge, Periventricular heterotopia, Prominent nasal tip, Depressed nasal bridge, Ant...	OMIM:618870
Van Maldergem Syndrome 1	Gray matter heterotopia, Wide nasal bridge, Simplified gyral pattern, Periventricular nodular het...	OMIM:601390
Hepatocellular Carcinoma	Diarrhea, Poor appetite, Abdominal pain, Abdominal distention, Anorexia	ORPHA:88673
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Wide nasal bridge, Simplified gyral pattern, Lissencephaly, Optic ne...	ORPHA:468631
Junctional Epidermolysis Bullosa With Pyloric Atresia	Abdominal distention, Nausea and vomiting	ORPHA:79403
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Depressed nasal bridge, Anteverted nares	OMIM:618797
Bohring-Opitz Syndrome	Gray matter heterotopia, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Agenesis of...	OMIM:605039
Pagod Syndrome	Meningocele, Encephalocele, Abnormality of neuronal migration, Optic atrophy, Death in infancy, S...	ORPHA:991
Aicardi Syndrome	Gray matter heterotopia, Optic atrophy, Lateral ventricle dilatation, Spina bifida, Partial agene...	OMIM:304050
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Gray matter heterotopia	ORPHA:531151
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Aplasia of the nasal bone, Colpocephaly, Short nose, Holoprosencephaly, ...	OMIM:618820
Mucolipidosis Ii Alpha/Beta	Recurrent bronchitis, Depressed nasal bridge, Myelopathy, Anteverted nares, Death in childhood, P...	OMIM:252500
Lethal Kniest-Like Dysplasia	Protuberant abdomen	ORPHA:2347
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Bifid nose, Mi...	OMIM:236680
16Q24.3 Microdeletion Syndrome	Colpocephaly, Periventricular heterotopia, Anteverted nares, Optic nerve hypoplasia	ORPHA:261250
Mucopolysaccharidosis Type 3	Intermittent diarrhea, Optic atrophy, Hydrocephalus, Adenoiditis, Constipation, Dysphagia, Thick ...	ORPHA:581
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Wide nasal bridge, Agyria, Lissencephaly, Short nose, Anteverted nares, ...	OMIM:247200
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Depressed nasal bridge	OMIM:617563
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Diarrhea, Aganglionic megacolon, Abdominal distention, Constipation	ORPHA:653
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Abdominal distention	ORPHA:158684
X-Linked Acrogigantism	Abdominal distention	ORPHA:300373
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Greenberg Dysplasia	Depressed nasal ridge, Depressed nasal bridge, Stillbirth, Neonatal death, Protuberant abdomen	OMIM:215140
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Periventri...	OMIM:618733
Currarino Syndrome	Abdominal distention, Chronic constipation, Gastrointestinal obstruction	OMIM:176450
Blomstrand Lethal Chondrodysplasia	Short nose, Depressed nasal bridge, Anteverted nares, Protuberant abdomen	ORPHA:50945
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr...	ORPHA:75857
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Arboleda-Tham Syndrome	Gastroesophageal reflux, Optic atrophy, Dystonia, Broad nasal tip, Bifid nasal tip, Dysphagia, Lo...	OMIM:616268
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Constipation, Abdominal distention	OMIM:218700
Atelosteogenesis Type Ii	Wide nasal base, Protuberant abdomen	ORPHA:56304
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Prominent nose, Hydrocephalus, Partial agenesis of the corpus callosum, ...	OMIM:305450
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Aplasia of the nose	ORPHA:3186
Hypocalcemic Vitamin D-Dependent Rickets	Protuberant abdomen	ORPHA:289157
Dyggve-Melchior-Clausen Disease	Recurrent upper respiratory tract infections, Protuberant abdomen	ORPHA:239
Orofaciodigital Syndrome I	Underdeveloped nasal alae, Gray matter heterotopia, Myelomeningocele, Wide nasal bridge, Abnormal...	OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gray matter heterotopia, Prominent nose, Colpocephaly, Abnormal cortical gyration, Lateral ventri...	OMIM:210710
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Gray matter heterotopia, Frontal polymicrogyria, Pachygyria	OMIM:620024
Kasabach-Merritt Syndrome	Abdominal pain, Abdominal distention	ORPHA:2330
Pyknoachondrogenesis	Depressed nasal ridge, Abdominal distention	ORPHA:3003
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Abnormality of neuronal migration	ORPHA:163681
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention	OMIM:271520
Short Rib-Polydactyly Syndrome	Depressed nasal bridge, Protuberant abdomen	ORPHA:1505
Combined Immunodeficiency-Enteropathy Spectrum	Bloody diarrhea, Abdominal distention	ORPHA:436252
Van Maldergem Syndrome 2	Gray matter heterotopia, Wide nasal bridge, Periventricular nodular heterotopia, Depressed nasal ...	OMIM:615546
Mowat-Wilson Syndrome	Vomiting, Wide nasal bridge, Aganglionic megacolon, Prominent nasal tip, Agenesis of corpus callo...	OMIM:235730
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Anteverted nares, Optic disc pallor, Death in childhood, Polymicrogyria	OMIM:214100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention	OMIM:619351
Liver Disease, Severe Congenital	Hepatic failure, Vomiting, Diarrhea, Dependency on parenteral nutrition, Narrow nasal ridge, Abdo...	OMIM:619991
Glycogen Storage Disease Ia	Intermittent diarrhea, Protuberant abdomen	OMIM:232200
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Depressed nasal bridge	ORPHA:26791
Biliary, Renal, Neurologic, And Skeletal Syndrome	Gastroesophageal reflux, Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Abdomi...	OMIM:619534
Mucolipidosis Type Ii	Depressed nasal bridge, Gastrostomy tube feeding in infancy, Protuberant abdomen	ORPHA:576
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nose, Spinal dysraphism, Gastrostomy tube feeding in infancy, Wide nasal bridge, Miscarriage...	ORPHA:96334
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Orofaciodigital Syndrome Type 6	Prominent nasal bridge, Broad nasal tip, Abnormality of neuronal migration	ORPHA:2754
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Protuberant abdomen	OMIM:608328
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enterocolitis, Diarrhea, Ulcerative colitis, Epistaxis, Inflammation of the large intestine, Prot...	ORPHA:79259
Koolen-De Vries Syndrome	Gray matter heterotopia, Bulbous nose, Pear-shaped nose, Prominent nasal bridge	OMIM:610443
Leprechaunism	Wide nose, Abdominal distention	ORPHA:508
Glycogen Storage Disease Ib	Inflammation of the large intestine, Protuberant abdomen	OMIM:232220
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Cranioectodermal Dysplasia 1	Anteverted nares, Hepatic failure, Wide nasal bridge, Protuberant abdomen	OMIM:218330
Vici Syndrome	Wide nose, Depressed nasal bridge, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Rhinitis, Diarrhea, Abdominal distention, Anorexia, Gastrointestinal inflammation, Oral-pharyngea...	ORPHA:95455
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per...	ORPHA:98889
Proteasome-Associated Autoinflammatory Syndrome 1	Prominent nose, Chronic constipation, Recurrent sinusitis, Recurrent upper respiratory tract infe...	OMIM:256040
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Depressed nasal bridge, Protuberant abdomen	OMIM:618019
Atresia Of Urethra	Abdominal distention	ORPHA:105
Viss Syndrome	Hypereosinophilia, Gastroesophageal reflux, Chronic diarrhea, Chronic constipation, Abdominal dis...	OMIM:619472
Nijmegen Breakage Syndrome	Convex nasal ridge, Prominent nose, Abnormality of neuronal migration, Depressed nasal bridge, Pr...	ORPHA:647
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Agenesis of corpus callosum, Abdominal distention	ORPHA:93271
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Underdeveloped nasal alae, Abnormal autonomic nervous system physiology, Gray matter heterotopia,...	ORPHA:453499
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Underdeveloped nasal alae, Gray matter heterotopia, Wide nasal bridge, Optic nerve hypoplasia, Br...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Underdeveloped nasal alae, Gray matter heterotopia, Wide nasal bridge, Optic nerve hypoplasia, Br...	ORPHA:352665
Fontaine Progeroid Syndrome	Gray matter heterotopia, Convex nasal ridge, Periventricular heterotopia, Death in infancy, Hydro...	OMIM:612289
Orofaciodigital Syndrome Xiv	Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Partial agenesis of the...	OMIM:615948
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Prominent nasal bridge, Abnormality of neuronal migration	ORPHA:464311
Arima Syndrome	Occipital meningocele, Gray matter heterotopia, Optic atrophy	OMIM:243910
Genitopatellar Syndrome	Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Pachygyria, Prominent ...	OMIM:606170
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Eisenmenger Syndrome	Abdominal distention	ORPHA:97214
Orofaciodigital Syndrome Type 14	Bulbous nose, Partial agenesis of the corpus callosum, Periventricular heterotopia	ORPHA:434179
Proteus Syndrome	Gray matter heterotopia, Depressed nasal bridge, Thick nasal alae, Anteverted nares	ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Convex nasal ridge, Periventricular heterotopia, Wide nasal bridge, Lateral ventricle dilatation,...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Convex nasal ridge, Periventricular heterotopia, Wide nasal bridge, Optic atrophy, Lateral ventri...	ORPHA:261552
Mowat-Wilson Syndrome	Periventricular heterotopia, Wide nasal bridge, Aganglionic megacolon, Prominent nasal tip, Broad...	ORPHA:2152
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Kallmann Syndrome	Tremor, Anosmia, Hyposmia	ORPHA:478

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fezf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fezf1.

No publications found that use IMPC mice or data for Fezf1.

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