banner
Genes Phenotypes Help, News, Blog

Gene: Nbea MGI:1347075

Log in to follow

Gene Summary

Name:
neurobeachin
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Nbeaem1(IMPC)Bay HOM E18.5 0.00
decreased bone mineral density Nbeaem1(IMPC)Bay HET Early adult 1.54×10-06
decreased lean body mass Nbeaem1(IMPC)Bay HET Early adult 4.53×10-06
abnormal body wall morphology Nbeaem1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Nbeaem1(IMPC)Bay HOM   Early adult 0.00
increased total body fat amount Nbeaem1(IMPC)Bay HET Early adult 7.93×10-05
decreased bone mineral content Nbeaem1(IMPC)Bay HET Early adult 2.01×10-05
cleft palate Nbeaem1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

VIP of left fundus

15 Images

View images
Eye Morphology

VIP of right eye

15 Images

View images
Eye Morphology

VIP of left eye

15 Images

View images
Eye Morphology

VIP of right fundus

15 Images

View images

Human diseases caused by Nbea 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 Nbea by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Attention deficit hyperactivity disorder OMIM:619157

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Attention deficit hyperactivity disorder, Gait ataxia OMIM:618221
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions OMIM:606053
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Prominent superficial veins, Atypical scarring of skin, Umbilical hernia, Bruisi... OMIM:617174
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Muscular Hypertonia, Lethal
Umbilical hernia, Death in infancy OMIM:254120
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Chromosome 15Q11-Q13 Duplication Syndrome
Unsteady gait, Impaired ability to form peer relationships, Impaired social interactions, Truncal... OMIM:608636
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Perching Syndrome
Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Arthrogryposis multiplex conge... OMIM:254210
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Bruising susceptibility, Hernia ORPHA:75497
Adams-Oliver Syndrome 4
Umbilical hernia, Cutis marmorata OMIM:615297
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Abnormal social behavior ORPHA:391417
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Distal arthrogryposis, Camptodactyly, Umbilical hernia OMIM:618011
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia ORPHA:1373
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... ORPHA:168782
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis ORPHA:2476
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Fetal Minoxidil Syndrome
Umbilical hernia ORPHA:1918
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Congenital Myasthenic Syndromes With Glycosylation Defect
Abnormal peripheral nervous system synaptic transmission, Flexion contracture, Knee flexion contr... ORPHA:353327
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder ORPHA:444002
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Cyanosis, Dystonia ORPHA:71277
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Spinocerebellar Ataxia Type 29
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... ORPHA:208513
Thyroid Hemiagenesis
Umbilical hernia, Jaundice ORPHA:95719
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Cyanosis, Fatigable weakness of neck muscles, Decrease... ORPHA:98913
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Umbilical hernia, Ectodermal dysplasia OMIM:273390
Breath-Holding Spells
Cyanosis OMIM:607578
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Jaundice ORPHA:2349
Sialidosis Type 2
Tremor, Umbilical hernia, Inguinal hernia, Flexion contracture ORPHA:87876
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Congenital contracture, Joint contracture of the 5th finger, Umbilical hernia, J... ORPHA:352490
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Achondrogenesis, Type Ib
Umbilical hernia, Inguinal hernia, Stillbirth OMIM:600972
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... ORPHA:3417
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Inguinal hernia, Arthrogryposis multiplex congenita OMIM:615834
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Arthrogryposis multiplex congenita, Decreased miniature endplate potentials OMIM:608930
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Imagawa-Matsumoto Syndrome
Umbilical hernia, Camptodactyly OMIM:618786
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia ORPHA:1516
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Limb dystonia ORPHA:621
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Glycosylphosphatidylinositol Biosynthesis Defect 11
Umbilical hernia, Inguinal hernia OMIM:616025
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Diastasis recti OMIM:606893
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Prolonged neonatal jaundice ORPHA:95717
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Inguinal hernia ORPHA:2196
Cardiocranial Syndrome, Pfeiffer Type
Umbilical hernia, Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finge... ORPHA:2872
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Prematurely aged appearance, Umbilical hernia, ... ORPHA:2963
Chromosome 6Q11-Q14 Deletion Syndrome
Umbilical hernia, Inguinal hernia OMIM:613544
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Inguinal hernia, Joint contracture of the hand OMIM:600325
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand OMIM:175700
Schisis Association
Omphalocele, Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, U... ORPHA:63862
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Achondrogenesis
Umbilical hernia, Inguinal hernia ORPHA:932
Transient Neonatal Diabetes Mellitus
Umbilical hernia ORPHA:99886
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Prominent superficial veins, Prematurely aged appearance, Poor w... OMIM:618000
Achondrogenesis Type 1B
Umbilical hernia, Femoral hernia ORPHA:93298
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Inguinal hernia OMIM:617662
Coffin-Siris Syndrome 3
Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia OMIM:614608
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Achondrogenesis Type 1A
Umbilical hernia, Femoral hernia ORPHA:93299
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Inguinal hernia, High palate, Cleft palate ORPHA:1135
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia OMIM:618272
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Prominent superficial veins, Poor wound healing, Hiatus hernia, Atrophic scars, ... OMIM:130080
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Opisthotonus OMIM:250800
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Inguinal hernia, Prominent superficial blood vessels, Athetosis OMIM:219150
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Frank-Ter Haar Syndrome
Umbilical hernia, Inguinal hernia, Camptodactyly of finger ORPHA:137834
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Exaggerated startle response OMIM:149400
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia ORPHA:1035
Tricuspid Atresia
Cyanosis ORPHA:1209
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia ORPHA:171839
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Prolonged neonatal jaundice ORPHA:95715
Buerger Disease
Acrocyanosis ORPHA:36258
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Poor wound healing, Cigarette-paper scars, Umbilical hernia, Bruising susceptibi... OMIM:130000
Aarskog-Scott Syndrome
Umbilical hernia, Inguinal hernia, Camptodactyly of finger ORPHA:915
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Inguinal hernia, Elbow flexion contracture, Knee flexion contracture, Congenital... OMIM:616266
Thyroid Dyshormonogenesis 1
Umbilical hernia OMIM:274400
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia ORPHA:2181
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Shoulder flexion contracture, Umbilical hernia, Joint contractu... OMIM:255800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Acrocyanosis, Joint contracture of the 5th finger, Intention tremor OMIM:614407
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Pseudo-Torch Syndrome 1
Umbilical hernia, Jaundice, Petechiae, Dystonia OMIM:251290
Intellectual Developmental Disorder, Autosomal Dominant 43
Umbilical hernia, Dystonia OMIM:616977
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigable weakness of skeletal muscles, Cyanosis, Knee flexion contracture OMIM:617239
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Umbilical hernia, Inguinal hernia, Elbow contracture, Death in infancy OMIM:620275
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Arthrogryposis-like hand anomaly, Camptodactyly ORPHA:369891
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Snijders Blok-Campeau Syndrome
Umbilical hernia, Inguinal hernia, Enamel hypoplasia OMIM:618205
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Prolonged neonatal jaundice ORPHA:95716
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Inguinal hernia ORPHA:329224
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Cutis marmorata, Death in childhood OMIM:612938
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Tremor, Death in childhood, Neonatal death, Umbilical hernia, Intention tremor OMIM:614052
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti ORPHA:254534
Hsd10 Disease, Infantile Type
Choreoathetosis, Cyanosis, Dystonia ORPHA:391428
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia OMIM:617751
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus ORPHA:335
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Dent Disease 2
Umbilical hernia OMIM:300555
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Opisthotonus, Cervical myelopathy OMIM:207950
Houge-Janssens Syndrome 3
Umbilical hernia, Inguinal hernia OMIM:618354
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia ORPHA:500159
Young-Onset Parkinson Disease
Short attention span, Frontal lobe dementia, Bradykinesia, Dementia, Gait imbalance, Cognitive im... ORPHA:2828
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Rin2 Syndrome
Umbilical hernia, Bruising susceptibility ORPHA:217335
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Inguinal hernia, Joint contracture of the 4th finger, Joint contracture of the ... OMIM:618914
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia, Bruising susceptibility OMIM:614170
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Hereditary Hyperekplexia
Umbilical hernia, Hernia, Hiatus hernia ORPHA:3197
Arthrogryposis Multiplex Congenita 5
Death in infancy, Inguinal hernia, Dystonia, Flexion contracture, Elbow flexion contracture, Hand... OMIM:618947
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Smith-Kingsmore Syndrome
Umbilical hernia, Diastasis recti OMIM:616638
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Eosinophilic Fasciitis
Fasciitis, Acrocyanosis, Cellulitis ORPHA:3165
Cantu Syndrome
Umbilical hernia OMIM:239850
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Intra... OMIM:603194
Carpenter Syndrome
Umbilical hernia ORPHA:65759
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Umbilical hernia, Inguinal hernia ORPHA:3218
Congenital Myasthenic Syndrome
Fatigable weakness, Arthrogryposis multiplex congenita, Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Fatigable weakness, Arthrogryposis multiplex congenita, Cyanosis ORPHA:98914
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Telangiectasia OMIM:612582
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Umbilical... ORPHA:2311
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dementia, D... ORPHA:309271
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Inguinal hernia OMIM:252900
Pelger-Huet Anomaly
Umbilical hernia OMIM:169400
Dravet Syndrome
Cyanotic episode, Action tremor ORPHA:33069
Luo-Schoch-Yamamoto Syndrome
Umbilical hernia OMIM:619460
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Diastasis recti, Large placenta, Flexion contracture, Camptodactyly... ORPHA:254528
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Cyanosis OMIM:265120
Congenital Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Petechiae, Telangiectasia ORPHA:93400
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Telangiectasia of the skin, Abnormal dental enamel morphology, Spin... ORPHA:2092
Schneckenbecken Dysplasia
Umbilical hernia, Stillbirth OMIM:269250
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Congenital Heart Block
Cyanosis ORPHA:60041
Mesomelia-Synostoses Syndrome
Umbilical hernia ORPHA:2496
Tatton-Brown-Rahman Syndrome
Umbilical hernia OMIM:615879
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive gait ataxia, Abnormal social behavior, Progressive psychomotor ... ORPHA:309263
Scarf Syndrome
Inguinal hernia, Diastasis recti, Umbilical hernia, Enamel hypoplasia, Hypocalcification of denta... ORPHA:3134
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Inguinal hernia, Widened atrophic scar, Poor wound healing, Elbow flexion contracture, Atypical s... ORPHA:1900
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Umbilical hernia, Telangiectasia of the skin ORPHA:85321
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Ataxia, Progressive language deterioration, Attention deficit hyper... OMIM:610042
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Progeroid facial appearance, Prominent veins on trunk, Excessive ... ORPHA:2962
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Progeroid facial appearance, Fle... OMIM:208050
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Umbilical hernia, Diastasis recti OMIM:616579
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Atrophic scars, Umbilical hernia, Bruising susceptibility, Fragile skin OMIM:225410
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Umbilical hernia, Cutis marmorata OMIM:619758
Hurler-Scheie Syndrome
Umbilical hernia, Inguinal hernia, Contracture of the distal interphalangeal joint of the fingers... OMIM:607015
Kniest Dysplasia
Hip contracture, Umbilical hernia, Inguinal hernia OMIM:156550
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:64280
Carpenter Syndrome 1
Omphalocele, Spina bifida occulta, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:201000
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Umbili... OMIM:618651
Fg Syndrome Type 1
Umbilical hernia, Inguinal hernia, Progressive flexion contractures, Facial wrinkling ORPHA:93932
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Endove Syndrome, Limb-Brain Type
Umbilical hernia OMIM:619218
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Juvenile Sialidosis Type 2
Umbilical hernia, Inguinal hernia ORPHA:93399
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... ORPHA:98915
Roifman-Chitayat Syndrome
Umbilical hernia OMIM:613328
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Opisthotonus ORPHA:3304
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Fatigable weakness of skeletal musc... ORPHA:1320
Kleefstra Syndrome Due To A Point Mutation
Umbilical hernia, Inguinal hernia ORPHA:261652
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Chromosome 18Q Deletion Syndrome
Tremor, Umbilical hernia, Inguinal hernia OMIM:601808
Osteogenesis Imperfecta, Type Xiii
Umbilical hernia, Dentinogenesis imperfecta OMIM:614856
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Hiatus hernia OMIM:619769
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Bladder Exstrophy
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy ORPHA:93930
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Spina bifida, Hernia, Umbilical hernia ORPHA:261318
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Umbilical hernia ORPHA:1778
Axenfeld-Rieger Syndrome, Type 2
Umbilical hernia, Inguinal hernia OMIM:601499
Macs Syndrome
Umbilical hernia, Bruising susceptibility OMIM:613075
Down Syndrome
Umbilical hernia, Prematurely aged appearance ORPHA:870
Gapo Syndrome
Umbilical hernia, Prematurely aged appearance ORPHA:2067
Tetrasomy 5P
Pericallosal lipoma, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis ORPHA:3309
9P13 Microdeletion Syndrome
Umbilical hernia, Hand tremor ORPHA:324313
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Inguinal hernia ORPHA:1292
Endove Syndrome, Limb-Only Type
Umbilical hernia OMIM:619217
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia ORPHA:1770
Trichothiodystrophy
Multiple joint contractures, Prematurely aged appearance, Absence of subcutaneous fat, Umbilical ... ORPHA:33364
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Choreoathetosis, Cyanosis, Opisthotonus OMIM:619580
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Inguinal hernia, Athetosis ORPHA:79351
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Prominent veins on trunk, Cellulitis, Umb... ORPHA:536532
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Inguinal hernia ORPHA:2505
Aicardi-Goutieres Syndrome 1
Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, U... ORPHA:2990
Lateral Meningocele Syndrome
Umbilical hernia, Inguinal hernia, Meningocele ORPHA:2789
Genetic Transient Congenital Hypothyroidism
Umbilical hernia, Prolonged neonatal jaundice ORPHA:226316
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Progeroid facial appearan... OMIM:613177
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Intellectual Disability, Buenos-Aires Type
Umbilical hernia ORPHA:3079
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Inguinal hernia, Meningocele OMIM:130720
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Inguinal hernia, Flexion contracture OMIM:309900
Scarf Syndrome
Umbilical hernia, Inguinal hernia, Diastasis recti, Enamel hypoplasia OMIM:312830
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Tatton-Brown-Rahman Syndrome
Umbilical hernia ORPHA:404443
Hurler Syndrome
Umbilical hernia, Inguinal hernia, Flexion contracture, Hernia OMIM:607014
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Inguinal hernia, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:618143
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia OMIM:614520
Adams-Oliver Syndrome 5
Umbilical hernia, Inguinal hernia OMIM:616028
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Cyanosis, Neonatal death OMIM:610921
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Minimal subcutaneous fat, Camptodactyly, Umbilical hernia, Joint contracture of ... OMIM:182212
Mucopolysaccharidosis Type 7
Umbilical hernia, Inguinal hernia ORPHA:584
48,Xxxy Syndrome
Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder ORPHA:96263
Amme Complex
Umbilical hernia, Inguinal hernia, Diastasis recti OMIM:300194
Immunodeficiency 49
Umbilical hernia OMIM:617237
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Distal Deletion 3P
Umbilical hernia, Inguinal hernia, Abnormal vestibulo-ocular reflex ORPHA:1620
Weaver Syndrome
Inguinal hernia, Diastasis recti, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:277590
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:219100
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia ORPHA:309256
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger ORPHA:896
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia OMIM:617952
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Facial wrinkling, Camptodactyly, Umbilical hernia, ... OMIM:305450
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis ORPHA:860
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Elbow flexion contracture, Spina bifida, Knee flexion contracture OMIM:613776
Mucopolysaccharidosis Type 3
Umbilical hernia, Inguinal hernia, Flexion contracture, Fatigable weakness of swallowing muscles ORPHA:581
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Bilateral camptodactyly OMIM:619234
Menkes Disease
Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical scarring of skin,... ORPHA:565
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Umbilical hernia, Death in infancy ORPHA:2241
Fucosidosis
Lipoatrophy, Acrocyanosis, Vascular skin abnormality ORPHA:349
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Flexion contracture, Diastasis recti OMIM:253220
Icf Syndrome
Umbilical hernia ORPHA:2268
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia ORPHA:2095
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contractur... OMIM:265000
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Prolonged neonatal jaundice ORPHA:90673
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Umbilical hernia, Spina bifida occulta, Camptodactyly OMIM:235510
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... OMIM:608594
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia ORPHA:1555
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory impairment, Abnormal s... ORPHA:314647
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Erythema, Flexion contracture, Stillbirth OMIM:308050
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Umbilical hernia, Intention tremor ORPHA:221139
Familial Visceral Myopathy
Umbilical hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger ORPHA:2604
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Death in infancy, Shoulder flexion contracture, Blepharospasm, ... ORPHA:800
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:618454
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Erythema,... ORPHA:464
Mucolipidosis Ii Alpha/Beta
Inguinal hernia, Diastasis recti, Myelopathy, Death in childhood, Camptodactyly, Umbilical hernia... OMIM:252500
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Prematurely aged appearance, Poor wound healing, Hiatus hernia, Incisional herni... ORPHA:287
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Redundant umbilical skin, Atrophic scars, Umbilical hernia, Bruising susceptibility OMIM:614557
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Constricting Bands, Congenital
Omphalocele, Encephalocele, Cleft upper lip, Cleft palate, Gastroschisis, Bladder exstrophy OMIM:217100
Robinow Syndrome, Autosomal Dominant 2
Umbilical hernia, Camptodactyly OMIM:616331
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... OMIM:269700
Shprintzen-Goldberg Syndrome
Umbilical hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Camptoda... ORPHA:2462
Oculodentodigital Dysplasia
Umbilical hernia, Camptodactyly of finger, Abnormal dental enamel morphology ORPHA:2710
Pulmonary Alveolar Microlithiasis
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Fatigable weakness ORPHA:60025
Opitz Gbbb Syndrome
Umbilical hernia, Inguinal hernia OMIM:300000
Hyperparathyroidism, Transient Neonatal
Umbilical hernia, Inguinal hernia OMIM:618188
Distal Deletion 19P
Keloids, Umbilical hernia, Vaginal hernia ORPHA:96129
Cantú Syndrome
Umbilical hernia ORPHA:1517
Martin-Probst Syndrome
Umbilical hernia, Telangiectasia OMIM:300519
Isolated Thyroid-Stimulating Hormone Deficiency
Umbilical hernia, Prolonged neonatal jaundice ORPHA:90674
Choanal Atresia
Cyanosis ORPHA:137914
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Diastasis recti, Knee flexion contracture, Umbilical hernia, Te... ORPHA:576
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Scarring, Diastasis recti, Hiatus hernia, Atrophic scars, Distal arthrogryposis, Umbilical hernia... OMIM:601776
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia OMIM:301040
Thyroid Ectopia
Umbilical hernia, Jaundice ORPHA:95712
3Mc Syndrome
Umbilical hernia, Spina bifida occulta, Diastasis recti ORPHA:293843
Marshall-Smith Syndrome
Omphalocele, Umbilical hernia, Death in childhood OMIM:602535
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Poor wound healing, Atypical scarring of skin, Umbilical hernia, Bruising suscep... ORPHA:536545
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Acromesomelic Dysplasia 4
Umbilical hernia OMIM:619636
Opitz Gbbb Syndrome
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2745
Gapo Syndrome
Umbilical hernia, Prominent scalp veins OMIM:230740
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Nicolaides-Baraitser Syndrome
Inguinal hernia, Excessive wrinkled skin, Periorbital wrinkles, Umbilical hernia, Premature skin ... OMIM:601358
Autosomal Recessive Robinow Syndrome
Umbilical hernia, Inguinal hernia, Camptodactyly of finger, Death in infancy ORPHA:1507
Ogden Syndrome
Inguinal hernia, Torticollis, Prematurely aged appearance, Facial wrinkling, Jaundice, Minimal su... OMIM:300855
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... OMIM:612289
Mucopolysaccharidosis, Type Vi
Umbilical hernia, Inguinal hernia, Flexion contracture, Cervical myelopathy OMIM:253200
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Criss-Cross Heart
Cyanosis ORPHA:1461
Simpson-Golabi-Behmel Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:373
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Umbilical hernia, Inguinal hernia, Camptodactyly of finger ORPHA:1101
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Velocardiofacial Syndrome
Umbilical hernia, Inguinal hernia OMIM:192430
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia OMIM:104350
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... ORPHA:91347
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Umbilical hernia, Hiatus hernia OMIM:610199
Leukocyte Adhesion Deficiency Type Ii
Umbilical hernia, Scarring ORPHA:99843
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Inguinal hernia, Umbilical hernia, Camptodactyly, Contracture of the proximal interphalangeal joi... OMIM:280000
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Umbilical hernia OMIM:614501
Adnp Syndrome
Umbilical hernia, Inguinal hernia ORPHA:404448
Meckel Syndrome 14
Occipital encephalocele, Cyanosis OMIM:619879
Early Infantile Epileptic Encephalopathy
Tremor, Umbilical hernia, Choreoathetosis, Dystonia ORPHA:1934
Okur-Chung Neurodevelopmental Syndrome
Umbilical hernia, Inguinal hernia OMIM:617062
Ablepharon Macrostomia Syndrome
Omphalocele, Umbilical hernia, Excessive wrinkled skin, Camptodactyly of finger ORPHA:920
Meester-Loeys Syndrome
Poor wound healing, Camptodactyly, Umbilical hernia, Joint contracture, Bruising susceptibility OMIM:300989
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Acrocyanosis, Cutis marmorata, Purpura ORPHA:183
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions, Attention deficit hyperactivity disorder,... ORPHA:177907
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis ORPHA:555874
Hajdu-Cheney Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:955
Cat Eye Syndrome
Umbilical hernia OMIM:115470
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Umbilical hernia, Omphalocele ORPHA:2166
Hunter-Macdonald Syndrome
Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Camptodactyly OMIM:611962
Robinow Syndrome, Autosomal Recessive 1
Umbilical hernia, Inguinal hernia OMIM:268310
Alpha-Mannosidosis, Infantile Form
Umbilical hernia ORPHA:309282
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe OMIM:608328
Monosomy 9Q22.3
Umbilical hernia ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Inguinal hernia, Abnormal dental enamel morphology, Atypical scarring of skin, ... ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia OMIM:301066
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Spina bifida, Meningocele, Occipital myelomen... ORPHA:567
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Death in childhood OMIM:618426
Acrocallosal Syndrome
Umbilical hernia, Inguinal hernia OMIM:200990
Trichotillomania
Hair-pulling OMIM:613229
Choreoacanthocytosis
Bradyphrenia, Short attention span, Hair-pulling, Socially inappropriate behavior, Weight loss, B... ORPHA:2388
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Meier-Gorlin Syndrome 6
Umbilical hernia OMIM:616835
Poems Syndrome
Acrocyanosis, Lipodystrophy ORPHA:2905
Autosomal Dominant Robinow Syndrome
Umbilical hernia, Inguinal hernia, Femoral hernia, Camptodactyly of finger ORPHA:3107
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Progressive gait ataxia, Dementia, Gait disturbance... ORPHA:646
Isolated Cleft Lip
Umbilical hernia ORPHA:199302
Hajdu-Cheney Syndrome
Umbilical hernia, Inguinal hernia OMIM:102500
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Perianal erythema, Ectodermal dysplasia, Death in... OMIM:308205
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdominal wall musculature,... ORPHA:285
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Umbilical hernia OMIM:266920
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Aicardi-Goutières Syndrome
Multiple joint contractures, Cutis marmorata, Lipoatrophy, Tremor, Prolonged neonatal jaundice, P... ORPHA:51
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis OMIM:252010
Esophageal Atresia
Omphalocele, Cyanosis ORPHA:1199
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Umbilical hernia OMIM:618164
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Umbilical hernia, Prolonged neonatal jaundice ORPHA:226307
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Excessive skin wrinkling on dorsum of hands and fingers, Prominen... ORPHA:2834
Branchioskeletogenital Syndrome
Umbilical hernia, Bladder exstrophy, Periorbital wrinkles ORPHA:1299
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:618846
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, My... OMIM:305600
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Hardikar Syndrome
Umbilical hernia, Jaundice, Bladder exstrophy, Prolonged neonatal jaundice OMIM:301068
Osteogenesis Imperfecta
Inguinal hernia, Abnormal dental enamel morphology, Flexion contracture, Umbilical hernia, Bruisi... ORPHA:666
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Mucopolysaccharidosis Type 2
Contractures of the large joints, Inguinal hernia, Umbilical hernia, Flexion contracture of digit ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Umbilical hernia, Inguinal hernia, Flexion contracture, Camptodactyly of finger ORPHA:217085
Tarp Syndrome
Cyanosis ORPHA:2886
Mucopolysaccharidosis Type 2, Attenuated Form
Umbilical hernia, Inguinal hernia, Flexion contracture, Camptodactyly of finger ORPHA:217093
Schinzel-Giedion Syndrome
Umbilical hernia, Inguinal hernia, Neural tube defect, Camptodactyly ORPHA:798
Tolchin-Le Caignec Syndrome
Umbilical hernia, Diastasis recti OMIM:618971
Fanconi Anemia
Umbilical hernia, Spina bifida ORPHA:84
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Abdominal wall defect ORPHA:96191
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Catel-Manzke Syndrome
Umbilical hernia, Inguinal hernia, Camptodactyly OMIM:616145
Cardiac Diverticulum
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti ORPHA:1686
Zimmermann-Laband Syndrome 1
Umbilical hernia, Spina bifida occulta OMIM:135500
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, U... ORPHA:116
Myasthenia Gravis
Acrocyanosis ORPHA:589
Robinow Syndrome
Umbilical hernia ORPHA:97360
Wrinkly Skin Syndrome
Inguinal hernia, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Palmoplan... OMIM:278250
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Aneurysm-Osteoarthritis Syndrome
Inguinal hernia, Camptodactyly of finger, Atypical scarring of skin, Uterine prolapse, Umbilical ... ORPHA:284984
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Myelomeningocele, Cyanosis OMIM:306955
Coffin-Siris Syndrome 1
Inguinal hernia, Cutis marmorata, Congenital diaphragmatic hernia, Umbilical hernia, Spina bifida... OMIM:135900
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... OMIM:187300
Williams Syndrome
Death in early adulthood, Inguinal hernia, Prematurely aged appearance, Abnormal dental enamel mo... ORPHA:904
Tetrasomy 9P
Umbilical hernia, Jaundice, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:3310
Heart Defects, Congenital, And Other Congenital Anomalies
Umbilical hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Congenital diaphragmatic he... OMIM:600001
Fraser Syndrome
Encephalocele, Omphalocele, Death in infancy, Myelomeningocele, Umbilical hernia ORPHA:2052
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Inguinal hernia OMIM:613884
Histiocytoid Cardiomyopathy
Cyanosis ORPHA:137675
Hutchinson-Gilford Progeria Syndrome
Prominent umbilicus, Prominent superficial blood vessels, Cyanosis, Absence of subcutaneous fat, ... ORPHA:740
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Pitt-Hopkins Syndrome
Acrocyanosis, Hiatus hernia ORPHA:2896
Mend Syndrome
Failure to thrive, Abnormal social behavior ORPHA:401973
Cohen-Gibson Syndrome
Umbilical hernia, Flexion contracture, Camptodactyly OMIM:617561
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia OMIM:218700
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Spina bifida, Stillbirth, Umbilical hernia OMIM:304120
Dermatomyositis
Telangiectasia of the skin, Erythema, Acrocyanosis, Cellulitis, Cutaneous photosensitivity, Chond... ORPHA:221
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia OMIM:616393
Robinow Syndrome, Autosomal Dominant 1
Umbilical hernia, Inguinal hernia OMIM:180700
Microphthalmia, Syndromic 2
Umbilical hernia, Contracture of the proximal interphalangeal joint of the 3rd toe, Flexion contr... OMIM:300166
Carpenter Syndrome 2
Umbilical hernia, Camptodactyly, Knee flexion contracture OMIM:614976
Liver Disease, Severe Congenital
Umbilical hernia, Inguinal hernia, Jaundice OMIM:619991
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Umbilical hernia, Hernia, Congenital diaphragmatic hernia ORPHA:2255
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Dystonia OMIM:620330
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Monosomy 22Q13.3
Umbilical hernia ORPHA:48652
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Cardiac Valvular Dysplasia 1
Inguinal hernia, Cyanosis OMIM:212093
Loeys-Dietz Syndrome 2
Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Camptodactyly OMIM:610168
Sotos Syndrome
Hip contracture, Inguinal hernia, Ankle flexion contracture, Tremor, Bilateral camptodactyly, Fle... ORPHA:821
Floating-Harbor Syndrome
Umbilical hernia, Inguinal hernia OMIM:136140
Aspartylglucosaminuria
Umbilical hernia, Inguinal hernia, Vascular skin abnormality ORPHA:93
Loeys-Dietz Syndrome 3
Inguinal hernia, Cystocele, Atrophic scars, Camptodactyly, Uterine prolapse, Umbilical hernia, Br... OMIM:613795
Omodysplasia 1
Umbilical hernia OMIM:258315
Absence Of The Pulmonary Artery
Cyanosis, Hypocapnia ORPHA:980
Menke-Hennekam Syndrome 1
Umbilical hernia, Inguinal hernia, Flexion contracture OMIM:618332
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Peters Plus Syndrome
Umbilical hernia, Inguinal hernia, Spina bifida occulta ORPHA:709
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Prematurely aged appearance, Telangiectasia of the skin, Aplasia/Hypoplasia of t... ORPHA:286
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Digeorge Syndrome
Umbilical hernia, Inguinal hernia, Femoral hernia OMIM:188400
Williams-Beuren Syndrome
Premature graying of hair, Umbilical hernia, Inguinal hernia, Flexion contracture OMIM:194050
Simpson-Golabi-Behmel Syndrome, Type 1
Umbilical hernia, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia OMIM:312870
Viss Syndrome
Inguinal hernia, Prominent superficial blood vessels, Umbilical hernia, Bruising susceptibility, ... OMIM:619472
Pallister-Hall Syndrome
Umbilical hernia, Inguinal hernia, Distal arthrogryposis ORPHA:672
Tuberous Sclerosis Complex
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:805
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Neuroocular Syndrome
Umbilical hernia OMIM:619539
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Postinfectious Vasculitis
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin ORPHA:48435
Peters-Plus Syndrome
Umbilical hernia, Diastasis recti OMIM:261540
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Coffin-Lowry Syndrome
Uterine prolapse, Inguinal hernia, Acrocyanosis, Cutis marmorata OMIM:303600
Charge Syndrome
Omphalocele, Umbilical hernia OMIM:214800
Aortic Arch Interruption
Cyanosis ORPHA:2299
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly... OMIM:601803
Townes-Brocks Syndrome 1
Umbilical hernia OMIM:107480
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Truncus Arteriosus
Cyanosis ORPHA:3384
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Goodpasture Syndrome
Cyanosis OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Attention deficit hyperactivity disorder OMIM:619157

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 Nbea

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 Nbea.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nbeal2tm1a(EUCOMM)Wtsi Nbeal1tm2b(EUCOMM)Hmgu PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nbeal1tm2b(EUCOMM)Hmgu Nbeal1tm2b(EUCOMM)Hmgu Nbeal2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nbeal2tm1a(EUCOMM)Wts PMC6459510
Nbeal2 interacts with Dock7, Sec16a, and Vac14. Blood (November 2017) Nbeal2tm1a(EUCOMM)Wtsi PMC5877783
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Nbeal2tm1a(EUCOMM)Wtsi PMC5827107
NBEAL2 is required for neutrophil and NK cell function and pathogen defense. The Journal of clinical investigation (August 2017) Nbeal2tm1a(EUCOMM)Wtsi PMC5669559
Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice. Blood (September 2014) Nbeal2tm1a(EUCOMM)Wtsi 25258341

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nbeaem1(IMPC)Bay Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter