Gene Summary

Name:
neurobeachin
Synonyms:
N/A

IMPC Data Collections

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.

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.

Phenotype associated images not available

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 OMIM:619157
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Oculogyric crisis ORPHA:178469

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
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Fragile skin, Bruising susceptibility, Umbilical hernia OMIM:617174
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness OMIM:618221
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... ORPHA:251623
Adams-Oliver Syndrome 4
Umbilical hernia, Cutis marmorata OMIM:615297
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Generalized hypotonia due to defect at the neuromuscular junction, Decreased ... OMIM:254210
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Elbow flexion contracture, Knee flexion contracture, Inguinal hernia, Hip contracture, Camptodact... OMIM:616266
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Bruising susceptibility, Umbilical hernia, Hernia ORPHA:75497
Muscular Hypertonia, Lethal
Umbilical hernia OMIM:254120
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Inguinal hernia, Umbilical hernia, Camptodactyly OMIM:618011
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Umbilical hernia ORPHA:1373
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Favorable response of weakness to acetylcholine esterase inhibitors, Knee fl... ORPHA:353327
Fetal Minoxidil Syndrome
Umbilical hernia ORPHA:1918
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:605809
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Dementia, Motor deterioration, ... ORPHA:168782
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Thyroid Hemiagenesis
Umbilical hernia, Jaundice ORPHA:95719
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Jaundice ORPHA:2349
Breath-Holding Spells
Cyanosis OMIM:607578
Achondrogenesis, Type Ib
Inguinal hernia, Umbilical hernia, Stillbirth OMIM:600972
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Umbilical hernia, Ectodermal dysplasia OMIM:273390
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Joint contracture of the 5th finger, Inguinal hernia, Arthrogrypos... ORPHA:352490
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Bruising susceptibility, Ventral hernia, Inguinal hernia, Umbilical hernia, Atrophic ... OMIM:618000
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decrease... ORPHA:98913
Apnea, Central Sleep
Cyanosis OMIM:207720
Sialidosis Type 2
Inguinal hernia, Umbilical hernia, Flexion contracture, Tremor ORPHA:87876
Myasthenic Syndrome, Congenital, 5
Prolonged miniature endplate currents, Fatigable weakness OMIM:603034
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Dystonia ORPHA:71277
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials, Arthrogryposis multiplex congenita OMIM:608930
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Umbilical hernia, Arthrogryposis multiplex congenita OMIM:615834
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Poor eye contact, Abnormal social behavior ORPHA:444002
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 level OMIM:603373
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Obesity ORPHA:329249
Chromosome 6Q11-Q14 Deletion Syndrome
Inguinal hernia, Umbilical hernia OMIM:613544
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia ORPHA:1516
Imagawa-Matsumoto Syndrome
Camptodactyly, Umbilical hernia OMIM:618786
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Diastasis recti OMIM:606893
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Memory impairment, Abnormal social behavior, Dementia, Ataxia ORPHA:1020
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Achalasia OMIM:252320
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Anhidrotic ectoderm... ORPHA:3417
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior ORPHA:391417
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Prolonged neonatal jaundice ORPHA:95717
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Achondrogenesis
Inguinal hernia, Umbilical hernia ORPHA:932
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Umbilical hernia, Joint contracture of the hand OMIM:600325
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Umbilical hernia, Contracture of the proximal interphalangeal joint of the 2nd finge... ORPHA:2872
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Inguinal hernia, Umbilical hernia OMIM:618354
Progeroid Syndrome, Petty Type
Shagreen patch, Prematurely aged appearance, Lipoatrophy, Reduced subcutaneous adipose tissue, Um... ORPHA:2963
Achondrogenesis Type 1B
Umbilical hernia, Femoral hernia ORPHA:93298
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Inguinal hernia, Umbilical hernia ORPHA:2196
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Prolonged neonatal jaundice ORPHA:95715
Transient Neonatal Diabetes Mellitus
Umbilical hernia ORPHA:99886
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Umbilical hernia, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Achondrogenesis Type 1A
Umbilical hernia, Femoral hernia ORPHA:93299
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness OMIM:618010
Dopa-Responsive Dystonia
Abnormal social behavior, Inability to walk, Lethargy, Fatigable weakness, Gait disturbance, Diff... ORPHA:255
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Difficulty walking, Overweight, Shyness ORPHA:280763
Permanent Congenital Hypothyroidism
Umbilical hernia, Jaundice ORPHA:226292
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia ORPHA:1035
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Inguinal hernia, Umbilical hernia OMIM:601351
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Opisthotonus OMIM:250800
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Umbilical hernia ORPHA:137834
Tatton-Brown-Rahman Syndrome
Umbilical hernia OMIM:615879
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Umbilical hernia OMIM:618164
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Robinow Syndrome, Autosomal Dominant 2
Umbilical hernia OMIM:616331
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Hyperekplexia 1
Inguinal hernia, Umbilical hernia, Exaggerated startle response OMIM:149400
Aarskog-Scott Syndrome
Inguinal hernia, Camptodactyly of finger, Umbilical hernia ORPHA:915
Osteogenesis Imperfecta, Type Xiii
Umbilical hernia OMIM:614856
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia ORPHA:171839
Thyroid Dyshormonogenesis 1
Umbilical hernia OMIM:274400
Tricuspid Atresia
Cyanosis ORPHA:1209
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Buerger Disease
Acrocyanosis ORPHA:36258
Ehlers-Danlos Syndrome, Classic Type, 1
Bruising susceptibility, Cigarette-paper scars, Poor wound healing, Inguinal hernia, Fragile skin... OMIM:130000
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Fragile skin, Bruising susceptibility, Umbilical hernia OMIM:225410
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia ORPHA:2181
Pseudo-Torch Syndrome 1
Umbilical hernia, Petechiae, Dystonia, Jaundice OMIM:251290
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Prolonged neonatal jaundice ORPHA:95716
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... ORPHA:91349
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Dent Disease 2
Umbilical hernia OMIM:300555
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Umbilical hernia, Athetosis, Prominent superficial blood vessels OMIM:219150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti ORPHA:254534
Hereditary Methemoglobinemia
Cyanosis, Athetosis, Limb dystonia ORPHA:621
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Umbilical hernia ORPHA:329224
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Catel-Manzke Syndrome
Inguinal hernia, Umbilical hernia, Camptodactyly OMIM:616145
Arthrogryposis Multiplex Congenita 5
Hand tremor, Dystonia, Flexion contracture, Elbow flexion contracture, Inguinal hernia, Premature... OMIM:618947
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Dystonia, Joint contracture of the 5th finger, Intention tremor OMIM:614407
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Umbilical hernia, Arthrogryposis-like hand anomaly ORPHA:369891
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1488
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Knee flexion contracture, Ankle flexion contracture, Cyanotic episode ORPHA:284417
Rin2 Syndrome
Umbilical hernia, Bruising susceptibility ORPHA:217335
Arterial Tortuosity Syndrome
Hiatus hernia, Bruising susceptibility, Flexion contracture, Telangiectases of the cheeks, Congen... OMIM:208050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Joint contracture of the 4th finger, Umbilical hernia, Joint contracture of the ... OMIM:618914
Smith-Kingsmore Syndrome
Umbilical hernia, Diastasis recti OMIM:616638
Encephalopathy, Ethylmalonic
Acrocyanosis, Death in infancy, Petechiae OMIM:602473
Cantu Syndrome
Umbilical hernia OMIM:239850
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia ORPHA:500159
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Schwartz-Jampel Syndrome, Type 1
Inguinal hernia, Shoulder flexion contracture, Flexion contracture of toe, Hip contracture, Wrist... OMIM:255800
Hereditary Hyperekplexia
Hiatus hernia, Umbilical hernia, Hernia ORPHA:3197
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Hashimoto thyroidi... ORPHA:95512
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Opisthotonus, Spina bifida, Cervical myelopathy OMIM:207950
Eosinophilic Fasciitis
Fasciitis, Acrocyanosis, Cellulitis ORPHA:3165
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Umbilical hernia OMIM:252900
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Umbilical hernia ORPHA:3218
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Diastasis recti, Inguinal hernia, Omphalocele, Large placenta, Flexion contr... ORPHA:254528
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Inguinal hernia, Spina bifida occulta, Camptodactyly of finger, ... ORPHA:2311
Pelger-Huet Anomaly
Umbilical hernia OMIM:169400
Mesomelia-Synostoses Syndrome
Umbilical hernia ORPHA:2496
Focal Dermal Hypoplasia
Diastasis recti, Hernia, Erythema, Congenital diaphragmatic hernia, Telangiectasia of the skin, I... ORPHA:2092
Congenital Myasthenic Syndrome
Cyanosis, Fatigable weakness, Arthrogryposis multiplex congenita ORPHA:590
Hsd10 Disease, Infantile Type
Cyanosis, Dystonia ORPHA:391428
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Fatigable weakness, Arthrogryposis multiplex congenita ORPHA:98914
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Telangiectasia of the skin, Umbilical hernia ORPHA:85321
Carpenter Syndrome
Umbilical hernia ORPHA:65759
Immunodeficiency 49
Umbilical hernia OMIM:617237
Kniest Dysplasia
Inguinal hernia, Umbilical hernia, Hip contracture OMIM:156550
Congenital Sialidosis Type 2
Inguinal hernia, Telangiectasia, Umbilical hernia, Petechiae ORPHA:93400
Scarf Syndrome
Diastasis recti, Enamel hypoplasia, Inguinal hernia, Hypocalcification of dental enamel, Umbilica... ORPHA:3134
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death OMIM:265120
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Cutis marmorata OMIM:612938
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Bruising susceptibility, Elbow flexion contracture, Atypical scarring of skin, Poor wound healing... ORPHA:1900
Macs Syndrome
Umbilical hernia, Bruising susceptibility OMIM:613075
Hurler-Scheie Syndrome
Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Contracture of the distal interphalan... OMIM:607015
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Luo-Schoch-Yamamoto Syndrome
Umbilical hernia OMIM:619460
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Congenital Hypothyroidism
Umbilical hernia, Prolonged neonatal jaundice, Angiokeratoma corporis diffusum ORPHA:442
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Acquired Methemoglobinemia
Cyanosis, Hypoxemia ORPHA:464453
Brittle Cornea Syndrome 2
Inguinal hernia, Umbilical hernia OMIM:614170
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Umbilical hernia OMIM:612582
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Inguinal hernia, Ectodermal dysplasia, Umbilical hernia OMIM:308205
Lamb-Shaffer Syndrome
Ataxia, Abnormal social behavior ORPHA:530983
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Halperin-Birk Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Death in childhood, Inguinal hernia, Umbili... OMIM:618651
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Abnormal social behavior, Dementia, Progressive psychomotor deterioration, Pro... ORPHA:309271
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, Bruising susceptibility, Distal arthrogryposis, Ecchymosis, Diastasis recti, Arthr... OMIM:601776
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Carpenter Syndrome 1
Omphalocele, Spina bifida occulta, Umbilical hernia, Camptodactyly, Joint contracture of the hand OMIM:201000
De Barsy Syndrome
Lipodystrophy, Prominent veins on trunk, Athetosis, Progeroid facial appearance, Inguinal hernia,... ORPHA:2962
Roifman-Chitayat Syndrome
Umbilical hernia OMIM:613328
Synaptic Congenital Myasthenic Syndromes
Prolonged miniature endplate currents, Unfavorable response of muscle weakness to acetylcholine e... ORPHA:98915
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Pituitary prolactin cell adenoma... ORPHA:251937
Trisomy 20P
Hernia, Inguinal hernia, Spina bifida, Camptodactyly of finger, Umbilical hernia ORPHA:261318
Juvenile Sialidosis Type 2
Inguinal hernia, Umbilical hernia ORPHA:93399
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Umbilical hernia ORPHA:261652
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Umbilical hernia, Intention tremor, Tremor OMIM:614052
Fg Syndrome Type 1
Facial wrinkling, Umbilical hernia, Progressive flexion contractures, Inguinal hernia ORPHA:93932
Bladder Exstrophy
Inguinal hernia, Umbilical hernia, Omphalocele, Bladder exstrophy ORPHA:93930
Endove Syndrome, Limb-Brain Type
Umbilical hernia OMIM:619218
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Dravet Syndrome
Action tremor, Cyanotic episode ORPHA:33069
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
Chromosome 18Q Deletion Syndrome
Inguinal hernia, Umbilical hernia, Tremor OMIM:601808
Gapo Syndrome
Umbilical hernia, Prematurely aged appearance ORPHA:2067
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Fatigable weakness of skeletal musc... ORPHA:1320
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Asbestos Intoxication
Cyanosis, Hypoxemia, Oxygen desaturation on exertion ORPHA:2302
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia OMIM:619769
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Inguinal hernia, Umbilical hernia ORPHA:1292
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Shyness ORPHA:163971
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia ORPHA:91359
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia ORPHA:1770
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Progressive gait ataxia, Abnormal social behavior ORPHA:309263
9P13 Microdeletion Syndrome
Umbilical hernia, Hand tremor ORPHA:324313
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Opisthotonus ORPHA:3304
Trichothiodystrophy
Multiple joint contractures, Intention tremor, Prematurely aged appearance, Enamel hypoplasia, Cu... ORPHA:33364
Endove Syndrome, Limb-Only Type
Umbilical hernia OMIM:619217
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Bruising susceptibility, Ventral hernia, Prominent veins on trunk, Inguinal hernia, W... ORPHA:536532
Developmental Delay With Or Without Dysmorphic Facies And Autism
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:618454
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Umbilical hernia OMIM:601499
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Umbilical hernia ORPHA:2505
Down Syndrome
Umbilical hernia, Prematurely aged appearance ORPHA:870
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Umbilical hernia ORPHA:1778
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Erythema, Flexion contracture, Stillbirth OMIM:308050
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:219100
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Mucopolysaccharidosis, Type Ii
Inguinal hernia, Umbilical hernia, Flexion contracture OMIM:309900
Scarf Syndrome
Inguinal hernia, Umbilical hernia, Diastasis recti, Enamel hypoplasia OMIM:312830
Intellectual Disability, Buenos-Aires Type
Umbilical hernia ORPHA:3079
Genetic Transient Congenital Hypothyroidism
Umbilical hernia, Prolonged neonatal jaundice ORPHA:226316
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Umbilical hernia, Athetosis ORPHA:79351
Tetrasomy 5P
Cyanosis, Pericallosal lipoma, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:3309
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Mucopolysaccharidosis Type 7
Inguinal hernia, Umbilical hernia ORPHA:584
Lateral Meningocele Syndrome
Inguinal hernia, Umbilical hernia, Meningocele OMIM:130720
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Arthrogryposis multiplex c... ORPHA:2990
Lateral Meningocele Syndrome
Inguinal hernia, Umbilical hernia, Meningocele ORPHA:2789
Weaver Syndrome
Diastasis recti, Inguinal hernia, Umbilical hernia, Camptodactyly, Joint contracture of the hand OMIM:277590
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Death in childhood, Inguinal hernia, Myelopathy, Umbilical hernia OMIM:252500
Developmental And Epileptic Encephalopathy 95
Inguinal hernia, Umbilical hernia, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:618143
Menkes Disease
Atypical scarring of skin, Hernia, Inguinal hernia, Chondrocalcinosis, Prolonged neonatal jaundic... ORPHA:565
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Bruising susceptibility, Umbilical hernia OMIM:614557
Tonne-Kalscheuer Syndrome
Broad-based gait, Shyness OMIM:300978
Hurler Syndrome
Inguinal hernia, Umbilical hernia, Flexion contracture, Hernia OMIM:607014
Aicardi-Goutieres Syndrome 1
Petechiae, Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Adams-Oliver Syndrome 5
Inguinal hernia, Umbilical hernia OMIM:616028
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia OMIM:614520
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Mucopolysaccharidosis Type 3
Inguinal hernia, Fatigable weakness of swallowing muscles, Umbilical hernia, Flexion contracture ORPHA:581
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia OMIM:610910
Distal Monosomy 3P
Inguinal hernia, Umbilical hernia, Abnormal vestibulo-ocular reflex ORPHA:1620
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Umbilical hernia, Cervical myelopathy OMIM:253200
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Death in infancy, Neonatal death, Hypoxemia OMIM:610921
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of ... OMIM:182212
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Prolonged neonatal jaundice ORPHA:90673
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Death in infancy, Umbilical hernia ORPHA:2241
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia OMIM:617952
Tatton-Brown-Rahman Syndrome
Umbilical hernia ORPHA:404443
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia ORPHA:79126
Opitz-Kaveggia Syndrome
Multiple joint contractures, Facial wrinkling, Inguinal hernia, Camptodactyly, Umbilical hernia, ... OMIM:305450
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Flexion contracture OMIM:253220
Multiple Pterygium Syndrome, Escobar Variant
Bilateral camptodactyly, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of toe, ... OMIM:265000
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Promin... OMIM:608594
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger ORPHA:896
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Opisthotonus OMIM:619580
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Umbilical hernia, Spina bifida occulta, Joint contracture of the hand OMIM:235510
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia ORPHA:860
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia ORPHA:2095
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Umbilical hernia OMIM:619234
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Tip-toe gait, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
Fucosidosis
Acrocyanosis, Lipoatrophy, Vascular skin abnormality ORPHA:349
Icf Syndrome
Umbilical hernia ORPHA:2268
Familial Visceral Myopathy
Camptodactyly of finger, Umbilical hernia, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:2604
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Promin... OMIM:269700
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia ORPHA:2257
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Umbilical hernia, Intention tremor ORPHA:221139
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Acrocyanosis, Erythema, Urticaria ORPHA:343
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Hashimoto thyroiditis, Grav... ORPHA:64744
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Memory impairment, Abnormal social behavior, Ataxia, Unsteady gait, Nonprogressive cer... ORPHA:314647
Schwartz-Jampel Syndrome
Blepharospasm, Inguinal hernia, Shoulder flexion contracture, Flexion contracture of toe, Hip con... ORPHA:800
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Decreased circulating ACTH level, Central adr... ORPHA:2965
Incontinentia Pigmenti
Erythema, Telangiectasia of the skin, Abnormal dental enamel morphology, Spina bifida occulta, Ca... ORPHA:464
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia ORPHA:1555
Gapo Syndrome
Prominent scalp veins, Umbilical hernia OMIM:230740
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Bruising susceptibility, Ecchymosis, Prematurely aged appearance, Uterine prolapse... ORPHA:287
Cantú Syndrome
Umbilical hernia ORPHA:1517
Pulmonary Alveolar Microlithiasis
Cyanosis, Fatigable weakness, Hypoxemia, Oxygen desaturation on exertion ORPHA:60025
Arnold-Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Meningocele, Opisthotonus ORPHA:1136
Distal Monosomy 19P13.3
Vaginal hernia, Umbilical hernia, Keloids ORPHA:96129
Sener Syndrome
Inguinal hernia, Umbilical hernia OMIM:606156
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Umbilical hernia OMIM:301040
Martin-Probst Syndrome
Telangiectasia, Umbilical hernia OMIM:300519
Early-Onset Schizophrenia
No social interaction, Cognitive impairment, Lack of peer relationships, Shyness ORPHA:96369
Shprintzen-Goldberg Syndrome
Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Aplasia/Hypoplasia of the abdominal w... ORPHA:2462
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture ORPHA:98028
Kyphoscoliotic Ehlers-Danlos Syndrome
Bruising susceptibility, Atypical scarring of skin, Poor wound healing, Inguinal hernia, Fragile ... ORPHA:536545
Mucolipidosis Type Ii
Diastasis recti, Telangiectases of the cheeks, Knee flexion contracture, Inguinal hernia, Hip con... ORPHA:576
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia ORPHA:439
Isolated Thyroid-Stimulating Hormone Deficiency
Umbilical hernia, Prolonged neonatal jaundice ORPHA:90674
Sepsis In Premature Infants
Cyanosis, Petechiae, Purpura, Jaundice ORPHA:90051
Thyroid Ectopia
Umbilical hernia, Jaundice ORPHA:95712
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopit... ORPHA:91355
Cri-Du-Chat Syndrome
Overfriendliness, Difficulty walking, Small for gestational age OMIM:123450
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Oculodentodigital Dysplasia
Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology ORPHA:2710
Acromesomelic Dysplasia 4
Umbilical hernia OMIM:619636
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia ORPHA:747
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Cutis Laxa, Autosomal Recessive, Type Ic
Inguinal hernia, Umbilical hernia OMIM:613177
Marshall-Smith Syndrome
Omphalocele, Umbilical hernia, Death in childhood OMIM:602535
3Mc Syndrome
Spina bifida occulta, Umbilical hernia, Diastasis recti ORPHA:293843
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
48,Xxxy Syndrome
Obesity, Abnormal social behavior ORPHA:96263
Fontaine Progeroid Syndrome
Hypoplasia of the abdominal wall musculature, Prominent superficial veins, Prematurely aged appea... OMIM:612289
Choanal Atresia
Cyanosis ORPHA:137914
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Inguinal hernia, Omphalocele, Aplasia/H... ORPHA:373
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, Umbilical hernia ORPHA:1101
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Umbilical hernia OMIM:614501
Acrocallosal Syndrome
Inguinal hernia, Umbilical hernia OMIM:200990
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Umbilical hernia OMIM:610199
Opitz Gbbb Syndrome
Inguinal hernia, Umbilical hernia, Omphalocele, Congenital diaphragmatic hernia ORPHA:2745
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Hypoxemia ORPHA:2038
Tsh-Secreting Pituitary Adenoma
Hypogonadotropic hypogonadism, Female hypogonadism, Euthyroid hyperthyroxinemia, Thyroid crisis, ... ORPHA:91347
Opitz gbbb syndrome, type II
Inguinal hernia, Umbilical hernia, Diastasis recti, Hiatus hernia OMIM:145410
Criss-Cross Heart
Cyanosis ORPHA:1461
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia OMIM:104350
Robinow Syndrome, Autosomal Recessive 1
Inguinal hernia, Umbilical hernia OMIM:268310
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Death in infancy, Umbilical hernia, Camptodactyly of finger ORPHA:1507
Pulmonary Capillary Hemangiomatosis
Cyanosis, Hypoxemia ORPHA:199241
Velocardiofacial Syndrome
Inguinal hernia, Umbilical hernia OMIM:192430
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Leukocyte Adhesion Deficiency Type Ii
Scarring, Umbilical hernia ORPHA:99843
Hajdu-Cheney Syndrome
Inguinal hernia, Umbilical hernia, Hernia ORPHA:955
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Adnp Syndrome
Inguinal hernia, Umbilical hernia ORPHA:404448
Luscan-Lumish Syndrome
Obesity, Shyness OMIM:616831
Weill-Marchesani Syndrome 2
Umbilical hernia, Flexion contracture of toe, Elbow flexion contracture OMIM:608328
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia OMIM:301066
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Acrocyanosis, Urticaria, Cutis marmorata ORPHA:183
Hajdu-Cheney Syndrome
Inguinal hernia, Umbilical hernia OMIM:102500
Hunter-Macdonald Syndrome
Inguinal hernia, Umbilical hernia, Camptodactyly, Joint contracture of the hand OMIM:611962
Meier-Gorlin Syndrome 6
Umbilical hernia OMIM:616835
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia ORPHA:555874
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness OMIM:619293
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Inguinal hernia, Spina bifida, Abnormal dental enamel morphology, Men... ORPHA:567
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Ablepharon Macrostomia Syndrome
Omphalocele, Camptodactyly of finger, Umbilical hernia, Excessive wrinkled skin ORPHA:920
Alpha-Mannosidosis, Infantile Form
Umbilical hernia ORPHA:309282
Monosomy 9Q22.3
Umbilical hernia ORPHA:77301
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Inguinal hernia, Abnormal dental enamel morphology, Death in infancy, ... ORPHA:534
Focal Dermal Hypoplasia
Hiatus hernia, Myelomeningocele, Diastasis recti, Enamel hypoplasia, Congenital diaphragmatic her... OMIM:305600
Autosomal Dominant Robinow Syndrome
Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Femoral hernia ORPHA:3107
Diets-Jongmans Syndrome
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:618846
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Dystonia, Tremor ORPHA:1934
Poems Syndrome
Lipodystrophy, Acrocyanosis ORPHA:2905
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Poor eye contact, Shyness ORPHA:449291
Isolated Cleft Lip
Umbilical hernia ORPHA:199302
Niemann-Pick Disease Type C
Cognitive impairment, Abnormal social behavior, Dementia, Mental deterioration, Ataxia, Progressi... ORPHA:646
Hypermobile Ehlers-Danlos Syndrome
Genital hernia, Atypical scarring of skin, Inguinal hernia, Aplasia/Hypoplasia of the abdominal w... ORPHA:285
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Umbilical hernia, Encephalocele ORPHA:2166
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia OMIM:610913
White-Sutton Syndrome
Failure to thrive, Obesity, Waddling gait, Overfriendliness OMIM:616364
Wrinkly Skin Syndrome
Lipodystrophy, Prominent veins on trunk, Excessive skin wrinkling on dorsum of hands and fingers,... ORPHA:2834
Branchioskeletogenital Syndrome
Umbilical hernia, Periorbital wrinkles, Bladder exstrophy ORPHA:1299
Atrioventricular Septal Defect 3
Cyanosis OMIM:600309
Zimmermann-Laband Syndrome 1
Spina bifida occulta, Umbilical hernia OMIM:135500
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Osteogenesis Imperfecta
Bruising susceptibility, Flexion contracture, Inguinal hernia, Abnormal dental enamel morphology,... ORPHA:666
Mucopolysaccharidosis Type 2
Inguinal hernia, Umbilical hernia, Flexion contracture of digit, Contractures of the large joints ORPHA:580
Aicardi-Goutières Syndrome
Cutis marmorata, Dystonia, Arrhinencephaly, Multiple joint contractures, Lipoatrophy, Prolonged n... ORPHA:51
Hardikar Syndrome
Umbilical hernia, Prolonged neonatal jaundice, Bladder exstrophy, Jaundice OMIM:301068
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Umbilical hernia, Prolonged neonatal jaundice ORPHA:226307
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Flexion contracture ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Flexion contracture ORPHA:217093
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Death in infancy OMIM:252010
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia, Camptodactyly, Inguinal hernia ORPHA:798
Esophageal Atresia
Cyanosis, Omphalocele ORPHA:1199
Fanconi Anemia
Umbilical hernia, Spina bifida ORPHA:84
Paternal Uniparental Disomy Of Chromosome 6
Abdominal wall defect, Umbilical hernia ORPHA:96191
Tolchin-Le Caignec Syndrome
Umbilical hernia, Diastasis recti OMIM:618971
Beckwith-Wiedemann Syndrome
Diastasis recti, Congenital diaphragmatic hernia, Inguinal hernia, Large placenta, Omphalocele, U... ORPHA:116
49,Xxxxy Syndrome
Overfriendliness, Shyness ORPHA:96264
Tarp Syndrome
Cyanosis ORPHA:2886
Wrinkly Skin Syndrome
Inguinal hernia, Neonatal wrinkled skin of hands and feet, Umbilical hernia, Palmoplantar cutis laxa OMIM:278250
Myasthenia Gravis
Acrocyanosis ORPHA:589
Cardiac Diverticulum
Abdominal wall defect, Umbilical hernia, Omphalocele, Diastasis recti ORPHA:1686
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Multiple joint contractures, Inguinal hernia, Omphalocele, Camptodactyly, Umbilical hernia, Joint... OMIM:218649
Robinow Syndrome
Umbilical hernia ORPHA:97360
Coffin-Siris Syndrome 1
Cutis marmorata, Congenital diaphragmatic hernia, Inguinal hernia, Spina bifida occulta, Umbilica... OMIM:135900
Floating-Harbor Syndrome
Inguinal hernia, Umbilical hernia OMIM:136140
Fraser Syndrome
Myelomeningocele, Omphalocele, Death in infancy, Umbilical hernia, Encephalocele ORPHA:2052
Cohen-Gibson Syndrome
Camptodactyly, Umbilical hernia, Flexion contracture OMIM:617561
Aneurysm-Osteoarthritis Syndrome
Bruising susceptibility, Atypical scarring of skin, Uterine prolapse, Inguinal hernia, Camptodact... ORPHA:284984
Williams Syndrome
Prematurely aged appearance, Inguinal hernia, Abnormal dental enamel morphology, Spina bifida occ... ORPHA:904
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Obesity, Abnormal social behavior ORPHA:177907
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Prominent umbilicus, Prominent superficial blood vessels, Absence of subcutaneous fat, ... ORPHA:740
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Umbilical hernia, Aplasia of the left hemidiaphragm, Congenital diaphragmatic he... OMIM:600001
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia OMIM:218700
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Robinow Syndrome, Autosomal Dominant 1
Inguinal hernia, Umbilical hernia OMIM:180700
Tetrasomy 9P
Amelogenesis imperfecta, Umbilical hernia, Abnormal dental enamel morphology, Jaundice ORPHA:3310
Microphthalmia, Syndromic 2
Umbilical hernia, Contracture of the proximal interphalangeal joint of the 2nd toe, Contracture o... OMIM:300166
Duplication Of The Pituitary Gland
Microcephaly, Abnormal hypothalamus morphology, Abnormality of the pituitary gland, Agenesis of c... ORPHA:314621
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Conjunctival telangiectasia, Tongue telangiectasia, Lip telangiectasia, Palate telangie... OMIM:610655
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Histiocytoid Cardiomyopathy
Cyanosis ORPHA:137675
Pitt-Hopkins Syndrome
Hiatus hernia, Acrocyanosis ORPHA:2896
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Myelomeningocele, Omphalocele OMIM:306955
Dermatomyositis
Cellulitis, Erythema, Cutaneous photosensitivity, Telangiectasia of the skin, Chondrocalcinosis, ... ORPHA:221
Loeys-Dietz Syndrome 2
Inguinal hernia, Umbilical hernia, Camptodactyly, Joint contracture of the hand OMIM:610168
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Sotos Syndrome
Flexion contracture, Bilateral camptodactyly, Ankle flexion contracture, Inguinal hernia, Flushin... ORPHA:821
Aspartylglucosaminuria
Inguinal hernia, Umbilical hernia, Vascular skin abnormality ORPHA:93
Loeys-Dietz Syndrome 3
Bruising susceptibility, Uterine prolapse, Inguinal hernia, Camptodactyly, Umbilical hernia, Cyst... OMIM:613795
Omodysplasia 1
Umbilical hernia OMIM:258315
Menke-Hennekam Syndrome 1
Inguinal hernia, Umbilical hernia, Flexion contracture OMIM:618332
Mend Syndrome
Failure to thrive, Abnormal social behavior ORPHA:401973
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Hernia ORPHA:2255
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cyanosis, Hypoxemia, Nail bed telangiectasia, Conjunctival telangiectasia, Lip telangiectasia, Te... OMIM:187300
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Nail bed telangiectasia, Conjunctival telangiectasia, Tongue telangiectasia, Gastrointe... OMIM:600376
1P21.3 Microdeletion Syndrome
Obesity, Shyness ORPHA:293948
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Vascular Ehlers-Danlos Syndrome
Bruising susceptibility, Prematurely aged appearance, Uterine prolapse, Cigarette-paper scars, Te... ORPHA:286
Digeorge Syndrome
Inguinal hernia, Umbilical hernia, Femoral hernia OMIM:188400
Absence Of The Pulmonary Artery
Cyanosis, Hypocapnia ORPHA:980
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior, Small for gestational age, Slender build ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior, Small for gestational age, Slender build ORPHA:363958
Monosomy 22Q13.3
Umbilical hernia ORPHA:48652
Trichotillomania
Hair-pulling OMIM:613229
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia, Diastasis recti OMIM:312870
Peters Plus Syndrome
Inguinal hernia, Umbilical hernia, Spina bifida occulta ORPHA:709
Carpenter Syndrome 2
Camptodactyly, Umbilical hernia OMIM:614976
Viss Syndrome
Bruising susceptibility, Contracture of the proximal interphalangeal joint of the 2nd toe, Promin... OMIM:619472
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Williams-Beuren Syndrome
Premature graying of hair, Umbilical hernia, Flexion contracture, Inguinal hernia OMIM:194050
Pallister-Hall Syndrome
Inguinal hernia, Umbilical hernia, Distal arthrogryposis, Arrhinencephaly ORPHA:672
Van Esch-O'Driscoll Syndrome
Shyness OMIM:301030
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Peters-Plus Syndrome
Umbilical hernia, Diastasis recti OMIM:261540
Charge Syndrome
Omphalocele, Umbilical hernia, Arrhinencephaly OMIM:214800
Neuroocular Syndrome
Umbilical hernia OMIM:619539
Postinfectious Vasculitis
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin ORPHA:48435
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Orofaciodigital Syndrome V
Overfriendliness OMIM:174300
Choreoacanthocytosis
Bradykinesia, Mental deterioration, Bradyphrenia, Loss of ambulation, Hair-pulling, Falls, Weight... ORPHA:2388
Coffin-Lowry Syndrome
Inguinal hernia, Acrocyanosis, Uterine prolapse, Cutis marmorata OMIM:303600
Pallister-Killian Syndrome
Flexion contracture, Enamel hypoplasia, Congenital diaphragmatic hernia, Omphalocele, Inguinal he... OMIM:601803
Townes-Brocks Syndrome 1
Umbilical hernia OMIM:107480
Aortic Arch Interruption
Cyanosis ORPHA:2299
Eisenmenger Syndrome
Cyanosis, Hypoxemia ORPHA:97214
Truncus Arteriosus
Cyanosis ORPHA:3384
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Shyness, Ataxia, Slender build ORPHA:466791
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Goodpasture Syndrome
Cyanosis OMIM:233450
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait OMIM:619157
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Oculogyric crisis ORPHA:178469

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