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:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fezf1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Kallmann Syndrome
Tremor, Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hyposmia, Anterior hypop... ORPHA:478

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicro... OMIM:604213
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology, Simplified gyral... ORPHA:329228
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Periventricular n... OMIM:617201
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Optic atrophy OMIM:618572
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Hypoplasia of the corpus callosum, Thick cerebral cortex,... OMIM:618677
Colonic Atresia
Abdominal distention OMIM:303650
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Abnormal cerebral white matter morphology, Abdominal ... OMIM:613662
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Feeding difficulties, Hypoplasia of the corpus callosum, Death in infancy, Hepatic failure, Abdom... OMIM:618528
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Acalvaria
Spina bifida, Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus, Abnormal lung ... ORPHA:945
Primary Effusion Lymphoma
Pleural effusion, Abdominal distention, Abdominal pain ORPHA:48686
Primary Peritoneal Carcinoma
Nausea and vomiting, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Volvulus Of Midgut
Constipation, Abdominal distention, Neonatal intestinal obstruction OMIM:193250
Meckel Syndrome, Type 8
Microcephaly, Abdominal distention, Short nose, Depressed nasal ridge OMIM:613885
Lissencephaly 6 With Microcephaly
Pachygyria, Bulbous nose, Anteverted nares, Periventricular heterotopia, Hypoplasia of the corpus... OMIM:616212
Lissencephaly 2
Thick cerebral cortex, Microcephaly, Prominent nasal bridge, 4-layered lissencephaly, Lissencephaly OMIM:257320
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Feeding difficulties in inf... ORPHA:2924
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Co... ORPHA:2185
Athyreosis
Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Diarrhea, Abdominal distention ORPHA:160148
Liver Failure, Infantile, Transient
Vomiting, Feeding difficulties in infancy, Acute hepatic failure, Abdominal distention OMIM:613070
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Decreased motor nerve conduction velocity, Decreased sensory nerve ... ORPHA:298
Atresia Of Small Intestine
Vomiting, Abdominal distention, Feeding difficulties ORPHA:1201
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Death in infancy, Abdominal distention OMIM:277300
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Bulbous nose, Gray matter heterotopia, Simplified gyral pattern, Opt... OMIM:615219
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Acrocephalopolydactyly
Protuberant abdomen, Short nose, Depressed nasal ridge ORPHA:221054
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Microcephaly, Fac... ORPHA:370980
Thyroid Hemiagenesis
Constipation, Abdominal distention ORPHA:95719
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Protuberant abdomen, Constipation, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:226313
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Abdominal pain ORPHA:90003
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth OMIM:600972
Dysostosis Multiplex, Ain-Naz Type
Thin corpus callosum, Abdominal distention OMIM:619345
Glucose/Galactose Malabsorption
Chronic diarrhea, Abdominal distention, Hyperactive bowel sounds OMIM:606824
Puerto Rican Infant Hypotonia Syndrome
Constipation, Chronic constipation, Prominent nasal bridge, Abdominal distention OMIM:600096
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Optic atrophy, Agenesis of c... ORPHA:1528
Achondrogenesis Type 1A
Short nose, Aplasia/Hypoplasia of the lungs, Anteverted nares, Abdominal distention ORPHA:93299
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal pain, Nausea, Anorexia, Allodynia, Abdominal distention, Recurrent infection of the gas... ORPHA:51890
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Agenesis of cor... ORPHA:250972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Pachygyria, Abnormal periventricular white matter morphology, Abnormality of neuron... OMIM:608840
Cirrhosis, Familial
Abdominal distention OMIM:215600
Dysplastic Cortical Hyperostosis
Microcephaly, Aplasia/Hypoplasia of the lungs, Abnormality of neuronal migration ORPHA:2204
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Cerebral white matter atrophy, Recurrent respiratory infections, Abdominal diste... OMIM:619365
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Malnutrition, Abdominal distention, Abdominal pain OMIM:277320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Anencephaly, Optic n... OMIM:615287
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, L... OMIM:218670
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Peritoneal Cystic Mesothelioma
Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Abnormality of neuronal migration, Anteverted nares, Hydrocephalus ORPHA:1895
Acromelic Frontonasal Dysostosis
Broad nasal tip, Bifid nose, Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopitu... OMIM:603671
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Gaucher Disease, Type Ii
Feeding difficulties, Protuberant abdomen, Dysphagia, Cerebral atrophy, Recurrent aspiration pneu... OMIM:230900
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital
Anosmia OMIM:301700
Permanent Congenital Hypothyroidism
Constipation, Abdominal distention, Feeding difficulties ORPHA:226292
Ovarian Fibroma
Pleural effusion, Abdominal distention, Abdominal pain ORPHA:314473
Malignant Peritoneal Mesothelioma
Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Cleft ala nasi, Agenesis of corpus callosum, Gray matter heter... OMIM:164180
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Decreased liver function, Diarrhea, Abdominal distention OMIM:608104
Wolman Disease
Nausea and vomiting, Malnutrition, Abdominal distention, Hepatic failure ORPHA:75233
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Constipation, Nausea, Episodic vomiting, Diarrhea, Abdominal distention ORPHA:100924
Qazi-Markouizos Syndrome
Chronic constipation, Prominent nasal bridge, Abdominal distention ORPHA:3010
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Wide nasal bridge, Abnormality of neuronal migration, Cerebral cortical atrophy, Microcephaly, Op... ORPHA:2518
Glucose-Galactose Malabsorption
Malnutrition, Hyperactive bowel sounds, Diarrhea, Vomiting, Abdominal distention ORPHA:35710
Fibrochondrogenesis 2
Protuberant abdomen, Anteverted nares, Short nose OMIM:614524
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Vomiting, Feeding difficulties in infancy, Abdominal distention, Intestinal pseudo-obstruction OMIM:300048
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormal nasal bridge morphology, Abnormality of neuronal migration OMIM:614887
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen, Hypoplasia of the corpus callosum, Wide nasal bridge, Depressed nasal bridge OMIM:617102
Congenital Hypothyroidism
Anterior hypopituitarism, Constipation, Anosmia, Optic atrophy, Sinusitis, Feeding difficulties i... ORPHA:442
Desmoplastic Small Round Cell Tumor
Abdominal pain, Neoplasm of the lung, Ileus, Nausea and vomiting, Abdominal distention ORPHA:83469
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Aganglionic megacolon, Diarrhea, Vomiti... ORPHA:95427
Tetrasomy 18P
Microcephaly, Short nose, Abnormality of neuronal migration ORPHA:3307
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs, Hydrocepha... ORPHA:93274
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Abnormality of neuronal migrat... ORPHA:899
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Choanal atresia, Abdominal distention, Secretory diarrhea OMIM:270420
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Achondrogenesis, Type Ii
Abdominal distention, Stillbirth OMIM:200610
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Abdominal pain, Pleural effusion, Nausea, Pulmonary ede... ORPHA:64739
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Prominent nasal bridge, Depressed nasal bridge, Periventricula... OMIM:618974
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Visceral Myopathy 1
Malnutrition, Abdominal pain, Dysphagia, Constipation, Aganglionic megacolon, Intestinal pseudo-o... OMIM:155310
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Gray matter heterotopia OMIM:187600
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Agenesis of corpus callosum, Short nose, Absent se... ORPHA:35107
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Periventricular heterotopia, Abn... OMIM:618476
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Aganglionic megacolon, Abnormality of neuronal migrati... ORPHA:475
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Wide nasal bridge, Polymicrogyria, Ab... ORPHA:2211
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Gray matt... ORPHA:370959
Achondrogenesis, Type Ia
Short nose, Stillbirth, Protuberant abdomen, Anteverted nares, Depressed nasal bridge OMIM:200600
Ovarian Fibrothecoma
Pleural effusion, Abdominal distention, Abdominal pain ORPHA:314478
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Abdominal distention, Depressed nasal bridge ORPHA:85166
Metachromatic Leukodystrophy, Juvenile Form
Punctate periventricular T2 hyperintense foci, Intention tremor, Decreased nerve conduction veloc... ORPHA:309263
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia OMIM:615960
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Anteverted nares, Aganglionic megacolon, Abnormality o... ORPHA:2318
Familial Visceral Myopathy
Anteverted nares, Aganglionic megacolon, Microcephaly, Prominent nasal bridge, Abdominal distention ORPHA:2604
Oculogastrointestinal Muscular Dystrophy
Gastroparesis, Abdominal distention, Intestinal pseudo-obstruction ORPHA:1876
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Leber Congenital Amaurosis
Abnormality of the optic disc, Abnormality of neuronal migration ORPHA:65
Lymphatic Malformation 7
Pulmonary edema, Abdominal distention OMIM:617300
Thanatophoric Dysplasia
Pulmonary hypoplasia, Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia ORPHA:2655
Vici Syndrome
Depressed nasal tip, Agenesis of corpus callosum, Gray matter heterotopia, Death in infancy, Cere... ORPHA:1493
Colonic Atresia
Peptic ulcer, Abdominal distention ORPHA:1198
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Wide nasal bridge, Pulmonary lymphangiectasia, Hepatic failure, Abdominal diste... OMIM:235255
16P13.11 Microdeletion Syndrome
Short nose, Holoprosencephaly, Abnormality of neuronal migration, Microcephaly, Anteverted nares,... ORPHA:261236
Neonatal Adrenoleukodystrophy
Optic atrophy, Anteverted nares, Wide nasal bridge, Abnormality of neuronal migration ORPHA:44
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Protuberant abdomen, Megalencephaly, Abnormal corpus callosum morphology, Polymicrogyria, Depress... ORPHA:457485
X-Linked Acrogigantism
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Enlarged p... ORPHA:300373
Hereditary Fructose Intolerance
Abdominal pain, Constipation, Nausea, Chronic hepatic failure, Diarrhea, Vomiting, Abdominal dist... ORPHA:469
Chylomicron Retention Disease
Vomiting, Diarrhea, Abdominal distention ORPHA:71
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Abdominal distention OMIM:256300
Congenital Tufting Enteropathy
Optic disc coloboma, Chronic diarrhea, Choanal atresia, Vomiting, Abdominal distention, Secretory... ORPHA:92050
Metachromatic Leukodystrophy, Late Infantile Form
Punctate periventricular T2 hyperintense foci, Decreased nerve conduction velocity, Feeding diffi... ORPHA:309256
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Punctate periventricular T2 hyperintense fo... ORPHA:309271
Pancreatoblastoma
Vomiting, Diarrhea, Abdominal distention, Abdominal pain ORPHA:677
Fraser Syndrome 2
Abdominal distention, Underdeveloped nasal alae OMIM:617666
Thyroid Hypoplasia
Constipation, Abdominal distention ORPHA:95720
Lead Poisoning
Abdominal cramps, Abdominal pain, Constipation, Nausea, Anorexia, Vomiting, Abnormality of the au... ORPHA:330015
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebral atrophy, Tracheomalacia, Lar... OMIM:618797
Acute Intermittent Porphyria
Pseudobulbar paralysis, Tremor, Abdominal pain, Constipation, Diarrhea, Ileus, Nausea and vomitin... ORPHA:79276
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Short nose, Gray matter heterotopia, Anteverted nares,... OMIM:617822
Primary Hepatic Neuroendocrine Carcinoma
Nausea, Anorexia, Diarrhea, Neoplasm of the lung, Abdominal distention, Episodic abdominal pain ORPHA:100085
3C Syndrome
Short nose, Death in infancy, Recurrent respiratory infections, Wide nasal bridge, Abnormality of... ORPHA:7
Necrotizing Enterocolitis
Vomiting, Diarrhea, Abdominal distention, Bloody diarrhea ORPHA:391673
Neurocutaneous Melanocytosis
Meningocele, Death in infancy, Abnormality of neuronal migration ORPHA:2481
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Abnormal cerebral white matter morphology, Abnormality of neuronal migration OMIM:300957
Mirizzi Syndrome
Abdominal pain, Abdominal colic, Nausea, Anorexia, Vomiting, Abdominal distention ORPHA:521219
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Dysgyria, Microcephaly, Optic atrophy, Dilation of lat... ORPHA:135
Pseudo-Torch Syndrome 2
Microcephaly, Polymicrogyria, Cerebral calcification, Gray matter heterotopia OMIM:617397
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Pleural effusion, Diarrhea, Vomiting, Abdominal distention ORPHA:93552
Alternating Hemiplegia Of Childhood
Gastrointestinal dysmotility, Tremor, Dysphagia, Constipation, Abnormal autonomic nervous system ... ORPHA:2131
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Abnormality of the ba... ORPHA:157
Niemann-Pick Disease, Type A
Protuberant abdomen, Constipation, Vomiting, Diffuse reticular or finely nodular infiltrations, F... OMIM:257200
Diaphanospondylodysostosis
Short nose, Protuberant abdomen, Tracheomalacia, Polymicrogyria, Pulmonary hypoplasia, Depressed ... OMIM:608022
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrog... ORPHA:2671
Lysosomal Acid Lipase Deficiency
Protuberant abdomen, Acute hepatic failure, Death in infancy, Diarrhea, Hepatic failure, Vomiting OMIM:278000
Letterer-Siwe Disease
Pulmonary infiltrates, Abdominal distention OMIM:246400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis, Death in infancy, Abdominal distention, Nausea and vomiting ORPHA:2241
Schimke Immunoosseous Dysplasia
Protuberant abdomen, Elevated circulating thyroid-stimulating hormone concentration, Bulbous nose... OMIM:242900
Schimke Immuno-Osseous Dysplasia
Broad nasal tip, Abdominal distention, Depressed nasal bridge ORPHA:1830
Gallbladder Neuroendocrine Tumor
Nausea, Abdominal distention, Episodic abdominal pain, Anorexia ORPHA:100086
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Galloway-Mowat Syndrome
Microcephaly, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration ORPHA:2065
Celiac Disease, Susceptibility To, 1
Abdominal pain, Diarrhea, Cerebral calcification, Vomiting, Abdominal distention OMIM:212750
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Pachygyria, Short nose, Gray matter heterotopia, Hypoplasia of the corpu... OMIM:247200
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Dysphagia, Auton... ORPHA:85443
Donohue Syndrome
Abdominal distention OMIM:246200
Sepsis In Premature Infants
Gastrointestinal dysmotility, Functional abnormality of the gastrointestinal tract, Decreased liv... ORPHA:90051
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Fibrochondrogenesis 1
Short nose, Stillbirth, Protuberant abdomen, Anteverted nares, Depressed nasal bridge OMIM:228520
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite OMIM:227810
Radio-Tartaglia Syndrome
Bulbous nose, Anteverted nares, Gray matter heterotopia, Wide nasal bridge, Prominent nasal tip, ... OMIM:619312
Diarrhea 1, Secretory Chloride, Congenital
Diarrhea, Abdominal distention OMIM:214700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Agenesis of corpus callosum, Intracerebral periventricular calcifications, Abnormalit... ORPHA:228308
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Thick nasal alae, Abnormality of neuronal migration, C... ORPHA:192
Opsismodysplasia
Short nose, Protuberant abdomen, Anteverted nares, Recurrent respiratory infections, Depressed na... OMIM:258480
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen OMIM:184250
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Wide nasal ridge, Gray matter heterotopia ORPHA:531151
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Periventricular heterotopia, Hypopl... ORPHA:468631
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Bulbous nose, Intracerebral periventricular calcifications, Abnormality of n... OMIM:608836
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Abdominal distention, Episodic abdominal pain, Anorexia ORPHA:370348
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Abdominal distention, Laryngeal stenosis, Abnormal bronchus morphology ORPHA:93352
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Abdominal distention, Hepatic failure, Broad nasal tip ORPHA:1655
Sialuria
Protuberant abdomen, Wide nasal bridge OMIM:269921
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Tracheomalacia, Wide nasa... OMIM:601390
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Malnutrition, Nausea and vomiting, Feeding difficulties, Abdomina... ORPHA:275761
Hydrolethalus Syndrome 1
Agenesis of corpus callosum, Stillbirth, Absent septum pellucidum, Gray matter heterotopia, Arrhi... OMIM:236680
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Bilateral choanal atresia/stenosis, T... ORPHA:314679
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia ORPHA:1860
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypoplasia of the corpus callosum, Cerebral atrophy, Wide nasal bridge, Periventricular nodular h... OMIM:618659
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Holoprosencephaly
Panhypopituitarism, Depressed nasal tip, Aplasia/Hypoplasia of the corpus callosum, Anterior hypo... ORPHA:2162
Man1B1-Cdg
Periventricular heterotopia, Wide nasal bridge, Underdeveloped nasolabial fold, Wide nose, Promin... ORPHA:397941
Pagod Syndrome
Spina bifida, Death in infancy, Pulmonary artery hypoplasia, Abnormality of neuronal migration, M... ORPHA:991
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Pulmonary fibrosis, Dysphagia, Pleural effusion, Chronic diarrhea, Colitis, Vomit... ORPHA:3260
Hereditary Spherocytosis
Abdominal distention, Abdominal pain ORPHA:822
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Agenesis of corpus callosum, Underdeveloped nasal ala... OMIM:311200
Primary Biliary Cholangitis
Gastrointestinal inflammation, Orthostatic hypotension, Abdominal distention, Hepatic failure ORPHA:186
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Convex nasal ridge, Periventricular heterotopia, Absent septum pellucidum, Prominent nasal tip, A... OMIM:618870
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Anteverted nares, Gray matter heterotopia, Pol... OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 64
Bulbous nose, Periventricular nodular heterotopia, Microcephaly, Anteverted nares, Depressed nasa... OMIM:619188
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Abnormal hippocampus morphology, Thick cerebral cortex ORPHA:352582
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormal... ORPHA:75857
Pancreatic Triacylglycerol Lipase Deficiency
Colitis, Diarrhea, Abdominal distention, Abdominal pain ORPHA:309031
Mowat-Wilson Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Constipation, Aplasia/Hypoplasia ... OMIM:235730
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum, Interhypothalam... OMIM:618929
Short-Rib Thoracic Dysplasia 12
Protuberant abdomen, Holoprosencephaly, Anencephaly, Atelectasis, Neonatal death, Pulmonary hypop... OMIM:269860
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Abnormality of neuronal migration ORPHA:2063
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Short nose, Absent septum pellucidum, Gray matter heterotopia, Holop... OMIM:618820
Mucolipidosis Ii Alpha/Beta
Recurrent bronchitis, Protuberant abdomen, Death in childhood, Recurrent pneumonia, Anteverted na... OMIM:252500
Hypothyroidism, Congenital, Nongoitrous, 2
Constipation, Elevated circulating thyroid-stimulating hormone concentration, Abdominal distentio... OMIM:218700
Thyroid Ectopia
Constipation, Abdominal distention ORPHA:95712
Van Maldergem Syndrome 2
Gray matter heterotopia, Hypoplasia of the corpus callosum, Tracheomalacia, Wide nasal bridge, Pe... OMIM:615546
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Holoprosencephaly, Microcephaly, Abnormality of neuronal migration ORPHA:3186
Multiple Endocrine Neoplasia Type 2
Constipation, Aganglionic megacolon, Diarrhea, Neoplasm of the lung, Abdominal distention, Gangli... ORPHA:653
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal distention, Abdominal pain ORPHA:160
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen OMIM:277440
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Anteverte... ORPHA:261250
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Dyggve-Melchior-Clausen Disease
Protuberant abdomen, Microcephaly, Recurrent upper respiratory tract infections ORPHA:239
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Wide nasal bridge, Microcephaly, Agen... OMIM:605039
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the corpus callosum, Optic disc coloboma, Abnormality of neuronal migration... ORPHA:1454
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Polymicrogyria, Pulmonary hyp... OMIM:214100
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Mucopolysaccharidosis Type 3
Respiratory tract infection, Protuberant abdomen, Dysphagia, Constipation, Thick nasal alae, Recu... ORPHA:581
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention ORPHA:79403
Short Rib-Polydactyly Syndrome
Protuberant abdomen, Abnormal larynx morphology, Abnormal cerebral morphology, Abnormal epiglotti... ORPHA:1505
Atelosteogenesis Type Ii
Wide nasal base, Protuberant abdomen, Laryngeal cartilage malformation, Laryngeal stenosis, Pulmo... ORPHA:56304
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Abdominal distention OMIM:271520
Blomstrand Lethal Chondrodysplasia
Short nose, Protuberant abdomen, Pulmonary hypoplasia, Anteverted nares, Depressed nasal bridge ORPHA:50945
Bilateral Perisylvian Polymicrogyria
Choanal atresia, Ectopic posterior pituitary, Abnormality of neuronal migration, Bilateral perisy... ORPHA:98889
Opitz-Kaveggia Syndrome
Abnormal nasopharynx morphology, Gray matter heterotopia, Choanal atresia, Prominent nose, Hydroc... OMIM:305450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bronchomalacia, Abdominal distention, Pulmonary hypoplasia OMIM:619351
Vici Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Schizencephaly, Microcephaly, Recurrent res... OMIM:242840
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Orofaciodigital Syndrome Xvi
Depressed nasal bridge, Gray matter heterotopia OMIM:617563
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Periventricular nodul... OMIM:618918
Nijmegen Breakage Syndrome
Convex nasal ridge, Abnormality of neuronal migration, Recurrent sinopulmonary infections, Promin... ORPHA:647
Combined Immunodeficiency-Enteropathy Spectrum
Congenital cystic adenomatoid malformation of the lung, Abdominal distention, Bloody diarrhea ORPHA:436252
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention ORPHA:158684
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migrat... ORPHA:2754
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Agenesis o... OMIM:618733
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Hepatocellular Carcinoma
Abdominal pain, Anorexia, Diarrhea, Abdominal distention, Poor appetite ORPHA:88673
Kniest-Like Dysplasia, Lethal
Protuberant abdomen OMIM:245190
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Death in infancy, Anteverted nares OMIM:619135
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Cerebral cortical atrophy, ... ORPHA:464311
Koolen-De Vries Syndrome
Pear-shaped nose, Bulbous nose, Gray matter heterotopia, Hypoplasia of the corpus callosum, Laryn... OMIM:610443
Superficial Siderosis
Anosmia, Abnormal corpus callosum morphology, Dysgyria, Abnormality of the vestibulocochlear nerv... ORPHA:247245
Pyknoachondrogenesis
Abdominal distention, Depressed nasal ridge ORPHA:3003
Leprechaunism
Microcephaly, Abdominal distention, Wide nose ORPHA:508
Arboleda-Tham Syndrome
Feeding difficulties, Protuberant abdomen, Broad nasal tip, Microcephaly, Prominent nasal bridge,... OMIM:616268
Currarino Syndrome
Gastrointestinal obstruction, Chronic constipation, Abdominal distention OMIM:176450
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Protuberant abdomen, Death in adolescence, Recurren... OMIM:256040
Mucolipidosis Type Ii
Protuberant abdomen, Gastrostomy tube feeding in infancy, Recurrent respiratory infections, Depre... ORPHA:576
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Underdeveloped nasal alae, Gray matter heterotopia, Hypoplasia of the corpus callosum, Pleural ef... ORPHA:453499
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Feeding difficulties, Protuberant abdomen, Spinal dysraphism, Gastrostomy tube feeding in infancy... ORPHA:96334
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Abnormality of the larynx, Pneumonia, Abnormality of the pharynx, ... ORPHA:95455
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Gray matter heterotopia ORPHA:26791
Glycogen Storage Disease Ia
Protuberant abdomen, Intermittent diarrhea OMIM:232200
Weill-Marchesani Syndrome 2
Protuberant abdomen, Depressed nasal bridge OMIM:608328
Fontaine Progeroid Syndrome
Convex nasal ridge, Short nose, Gray matter heterotopia, Periventricular heterotopia, Hypoplasia ... OMIM:612289
Cranioectodermal Dysplasia 1
Protuberant abdomen, Anteverted nares, Hepatic failure, Wide nasal bridge OMIM:218330
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Bifid epiglottis, Pulmonary hypoplasia, Abdominal distention, Agenesis of corpus callosum, Wide n... ORPHA:93271
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Stillbirth, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, A... OMIM:210710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Protuberant abdomen, Ulcerative colitis, Epistaxis, Diarrhea... ORPHA:79259
Atresia Of Urethra
Abdominal distention ORPHA:105
Kasabach-Merritt Syndrome
Abdominal distention, Abdominal pain ORPHA:2330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Underdeveloped nasal alae, Gray matter heterotopia, Hypoplasia of the corpus callosum, Wide nasal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Underdeveloped nasal alae, Gray matter heterotopia, Hypoplasia of the corpus callosum, Wide nasal... ORPHA:352665
Glycogen Storage Disease Ib
Protuberant abdomen OMIM:232220
Genitopatellar Syndrome
Colpocephaly, Periventricular heterotopia, Laryngomalacia, Pulmonary hypoplasia, Microcephaly, Pr... OMIM:606170
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Holoprosencephaly, Hypoplasia of the corpus callosum, Aganglionic me... OMIM:270400
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Hypoplasia of the corpus callosum, Aplasia of the... OMIM:615948
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Orofaciodigital Syndrome Type 14
Bulbous nose, Periventricular heterotopia, Hypoplasia of the corpus callosum, Aplasia of the epig... ORPHA:434179
Eisenmenger Syndrome
Aortopulmonary window, Abdominal distention, Hemoptysis ORPHA:97214
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Convex nasal ridge, Depressed nasal tip, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:261537
Proteus Syndrome
Gray matter heterotopia, Thick nasal alae, Bronchogenic cyst, Depressed nasal bridge, Neoplasm of... ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Cerebral white matter hypoplasia, Convex nasal ridge, Hypoplasia of ... ORPHA:261552
Mowat-Wilson Syndrome
Depressed nasal tip, Periventricular heterotopia, Hypoplasia of the corpus callosum, Abnormal cer... ORPHA:2152
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Kallmann Syndrome
Tremor, Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hyposmia, Anterior hypop... 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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