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Gene: Lamtor4 MGI:1913346

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Gene Summary

Name:
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4
Synonyms:
0910001L09Rik

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
preweaning lethality, complete penetrance Lamtor4em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged thyroid gland Lamtor4em1(IMPC)Ccpcz HET Early adult 0.00
abnormal embryo size Lamtor4em1(IMPC)Ccpcz HOM E9.5 0.00
hyperactivity Lamtor4em1(IMPC)Ccpcz HET   Early adult 1.29×10-05
embryonic lethality prior to tooth bud stage Lamtor4em1(IMPC)Ccpcz HOM   E12.5 0.00
decreased thigmotaxis Lamtor4em1(IMPC)Ccpcz HET Early adult 3.48×10-05
abnormal rib morphology Lamtor4em1(IMPC)Ccpcz HET   Early adult 1.38×10-05
decreased locomotor activity Lamtor4em1(IMPC)Ccpcz HET   Early adult 2.53×10-05
abnormal behavior Lamtor4em1(IMPC)Ccpcz HET Early adult 3.49×10-05
abnormal thyroid gland morphology Lamtor4em1(IMPC)Ccpcz HET Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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XRay Images Whole Body Lateral Orientation

16 Images

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XRay Images Skull Lateral Orientation

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MicroCT E9.5

Embryo reconstruction

3 Images

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Human diseases caused by Lamtor4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lamtor4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp... OMIM:188570
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Goiter OMIM:274400
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Schizophrenia 15
Hyperactivity OMIM:613950
Blepharochalasis And Double Lip
Goiter OMIM:109900
Thyroid Lymphoma
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Thyrocerebroretinal Syndrome
Ataxia, Goiter OMIM:274240
Bangstad Syndrome
Progressive cerebellar ataxia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency... OMIM:210740
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nonprogressive cerebellar ataxia ORPHA:3327
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pendred Syndrome
Hyperparathyroidism, Ataxia, Thyroid carcinoma, Hypothyroidism, Goiter ORPHA:705
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Dysphagia ORPHA:142
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Pheochromocytoma, Elevated circulating calcitonin concent... ORPHA:1332
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Cowden Syndrome 5
Hyperthyroidism, Pectus excavatum, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... OMIM:615108
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hypothyroidism, Hashimoto thyroiditis, Depression ORPHA:83601
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Cowden Syndrome 6
Hyperthyroidism, Pectus excavatum, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... OMIM:615109
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Aggressive behavior, Pectus excavatum, Pectus carinatum, Gait ataxia, Abnormal rep... OMIM:609425
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3268
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Ataxia, Abnormal eat... ORPHA:209905
Cowden Syndrome 1
Hyperthyroidism, Pectus excavatum, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma... OMIM:158350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Ataxia, Depression, Gait ataxia, Bradykinesia, Gait disturban... ORPHA:254892
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Septopreoptic Holoprosencephaly
Impulsivity, Precocious puberty, Abnormal rib morphology, Dysphagia, Anterior hypopituitarism, Ce... ORPHA:280195
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Pectus carinatum, Self-injurious behavior, Thorac... OMIM:619467
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Hori... OMIM:615633
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest ORPHA:1801
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... ORPHA:91347
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Pectus carinatum, Gait ataxia... ORPHA:500180
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Broad clavicles, Nodular goiter ORPHA:371428
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Multiple Endocrine Neoplasia, Type Iib
Pectus excavatum, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hy... OMIM:162300
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Cowden Syndrome
Ataxia, Follicular thyroid carcinoma, Pectus excavatum, Enlarged polycystic ovaries, Abnormality ... ORPHA:201
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Narrow chest ORPHA:1354
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Pectus excavatum, Self-biting, Recurrent hand flappi... OMIM:300624
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Depressio... ORPHA:449291
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology ORPHA:2790
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Abnormal rib morphology, Hypogonadism, Type II diabetes mellitu... ORPHA:2234
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Mosaic Trisomy 14
Cryptorchidism, Abnormal rib morphology, Narrow chest ORPHA:1703
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Abnormal rib morphology, Congenital hypothyroidism, Abnorma... ORPHA:2519
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Disinhibition, Adrenal insu... ORPHA:43
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Elevated circulating parathyroid hormone level OMIM:122860
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Hypophosphatasia
Irritability, Abnormal rib morphology, Narrow chest ORPHA:436
Becker Nevus Syndrome
Supernumerary nipple, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs ORPHA:64755
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs ORPHA:1797
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions OMIM:187760
Renpenning Syndrome
Diabetes mellitus, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Decreased testicu... ORPHA:3242
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Narrow chest ORPHA:93267
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped ribs, Defor... ORPHA:168549
Metatropic Dysplasia
Long thorax, Abnormal rib morphology, Narrow chest ORPHA:2635
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... ORPHA:653
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest ORPHA:93298
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Low frustration tolerance, Abnorm... ORPHA:163681
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Fibrochondrogenesis 2
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia OMIM:614524
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Thickened ribs, Aggressive behavior OMIM:252920
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Femoral-Facial Syndrome
Maternal diabetes, Cryptorchidism, Rib fusion, Abnormal rib morphology, Sprengel anomaly ORPHA:1988
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Abnormal rib morphology ORPHA:2772
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Gait disturbance, Pectus carinatum ORPHA:93351
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology ORPHA:2345
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Pectus carinatum, Beaded ribs OMIM:259440
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... ORPHA:79078
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:2522
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Cryptorchidism, Lethargy, Horizontal ribs OMIM:614857
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Narrow chest ORPHA:93299
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Thin clavicles, Long clavicles, Thin ribs OMIM:244460
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... OMIM:610217
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Abnormal rib morphology, Pectus carinatum ORPHA:3082
Diastrophic Dysplasia
Abnormal clavicle morphology, Abnormal rib morphology, Cryptorchidism ORPHA:628
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Congenital hypoparathyroidism, Thin ribs ORPHA:93324
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Thickened ribs OMIM:252900
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion OMIM:609813
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... ORPHA:392
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... ORPHA:2021
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, ... ORPHA:249
Metatropic Dysplasia
Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow chest, Flaring of rib cage OMIM:156530
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Cryptorchidism, Short thorax, Rib fusion, Abnormal rib morphology ORPHA:2311
Dyggve-Melchior-Clausen Disease
Hyperactivity, Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Inability to walk... ORPHA:239
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short thorax, Bell-shaped thorax, Narrow ... OMIM:200600
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Cryptorchidism ORPHA:1145
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Thickened ribs, Dysphagia OMIM:252930
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Phace Syndrome
Abnormal sternum morphology, Hypothyroidism, Ectopic thyroid ORPHA:42775
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Hypogonadotropic hypogonadism, Pectus carinatum ORPHA:3068
Prune Belly Syndrome
Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased testicular size ORPHA:2970
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Missing ribs ORPHA:2759
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Thin ribs, Thoracic hypoplasia, Beaded ribs OMIM:166210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Thoracic scoliosis, Thickened ribs, Aggressive behavior, Agitation, ... OMIM:252940
Trisomy 13
Cryptorchidism, Abnormal rib morphology, Narrow chest ORPHA:3378
Pontine Tegmental Cap Dysplasia
Ataxia, Rib fusion, Dysmetria, Dysphagia OMIM:614688
Cooper-Jabs Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1488
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thin clavicles, Thin ribs, Short ribs... OMIM:228520
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Adrenal hypoplasia, Short ribs, Short clavicles, Thyroid hypoplasia OMIM:308050
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Rib fusion, Abnormal repetitive mannerisms, Attention deficit hyperactivity diso... ORPHA:261197
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology ORPHA:1486
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Dysphagia ORPHA:171430
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Cryptorchidism, Thin ribs ORPHA:456328
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short ribs, Thoracic hypoplasia, Beaded ribs OMIM:616897
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Undulate ribs, Thin ribs, Ovarian cyst, Short ribs, Narrow chest, Fractured rib OMIM:618188
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Difficulty walking, Thin ribs ORPHA:169189
Cenani-Lenz Syndrome
Hypothyroidism, Abnormal rib morphology ORPHA:3258
Oculocerebrocutaneous Syndrome
Cryptorchidism, Abnormal rib morphology, Missing ribs ORPHA:1647
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Mucopolysaccharidosis Type 4
Short thorax, Abnormal rib morphology, Gait disturbance, Pectus carinatum ORPHA:582
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Ataxia, Anterior rib cupping, Thin ribs, Prominent sternum, Thoracic kyphosis OMIM:300232
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles ORPHA:2484
Campomelia, Cumming Type
Pancreatic cysts, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Trisomy 1Q
Cryptorchidism, Short thorax, Abnormal rib morphology ORPHA:261344
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Abnorma... ORPHA:581
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion OMIM:277300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Supernumerary nipple, Pectus excavatum, Ri... OMIM:213980
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Three M Syndrome 2
Thin ribs, Scapular winging, Short thorax, Pectus carinatum OMIM:612921
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Thin ribs OMIM:300863
3M Syndrome
Scapular winging, Short thorax, Thin ribs, Enlarged thorax, Horizontal ribs ORPHA:2616
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... OMIM:234200
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Bilateral cryptorchidism, Rib fusion, Self-injurious behavior, Attention def... ORPHA:544488
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Abnormal thorax morphology, Narrow chest, Dysphagia ORPHA:73230
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Short ribs, Narrow chest, Thoracolumbar kyphosis, Thoracic hypoplasia OMIM:151210
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
Greenberg Dysplasia
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... OMIM:215140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Pseudo-Torch Syndrome 2
Lethargy, Thin ribs OMIM:617397
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Unilateral cryptorchidism, Thin ribs OMIM:300219
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormal rib morphology, Missing ribs ORPHA:3301
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic fibrosis, Lateral clavicle hook, Pancreatic cysts, Thoracic dysplasia, Short ribs, Nar... OMIM:208500
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Pectus excavatum, Abnormal rib morphology, Pectus carinatum, Irrita... ORPHA:800
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:3206
Monosomy 9Q22.3
Pectus excavatum, Hyperactivity, Ovarian fibroma, Abnormal rib morphology ORPHA:77301
Axial Mesodermal Dysplasia Spectrum
Abnormal rib morphology, Missing ribs ORPHA:1834
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Narrow chest, Broad ribs, Thoracic hypoplasia OMIM:613848
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Cryptorchidism, Abnormal rib morphology ORPHA:2215
Achondrogenesis, Type Ii
Barrel-shaped chest, Short ribs, Horizontal ribs OMIM:200610
Hallermann-Streiff Syndrome
Hyperactivity, Pectus excavatum, Cryptorchidism, Thin ribs, Choreoathetosis, Abnormal rib cage mo... OMIM:234100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... OMIM:620186
Lethal Congenital Contracture Syndrome 10
Broad ribs, Thoracic scoliosis, Hypoplasia of the thymus, Narrow chest OMIM:617022
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Narrow chest, Short clavicles ORPHA:1452
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Thin ribs OMIM:253290
Ellis-Van Creveld Syndrome
Cryptorchidism, Pectus carinatum, Short ribs, Narrow chest, Horizontal ribs OMIM:225500
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly ORPHA:958
Aspergillosis
Abnormal rib morphology ORPHA:1163
Mucopolysaccharidosis, Type Iva
Waddling gait, Prominent sternum, Flaring of rib cage, Pectus carinatum OMIM:253000
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Thoracic scoliosis, Rib fusion, Posterior rib gap OMIM:611209
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Narrow chest, Beaded ribs OMIM:616229
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs, Nar... OMIM:263520
Alagille Syndrome
Cryptorchidism, Abnormal rib morphology, Delayed puberty ORPHA:52
Dysosteosclerosis
Sclerotic scapulae, Short sternum, Short ribs, Narrow chest, Broad ribs, Clavicular sclerosis OMIM:224300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Pectus excavat... OMIM:620369
Kagami-Ogata Syndrome
Bell-shaped thorax, Long clavicles, Thin ribs OMIM:608149
Poland Syndrome
Diabetes mellitus, Aplasia/Hypoplasia of the sternum, Missing ribs, Cryptorchidism, Abnormal rib ... ORPHA:2911
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Cryptorchidism, Rib fusion, Abnormal sternum morphology, Hypogonadism, Gait dis... ORPHA:2990
Pallister-Hall Syndrome
Decreased testicular size, Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchi... ORPHA:672
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs ORPHA:1394
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs OMIM:609616
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology ORPHA:1120
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Down-sloping shoulders, Abnormal sternum morphology, Supernumerary ribs, Short r... OMIM:109400
Mucopolysaccharidosis, Type X
Broad ribs, Spatulate ribs, Broad clavicles OMIM:619698
Mosaic Trisomy 8
Decreased testicular size, Cryptorchidism, Abnormal rib morphology, Narrow chest ORPHA:96061
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Internally rotated shoulders, Decreased response to growth hormone stimulation ... OMIM:619503
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
Kbg Syndrome
Cryptorchidism, Rib fusion, Cervical ribs, Thoracic kyphosis, Attention deficit hyperactivity dis... OMIM:148050
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs OMIM:618265
Meier-Gorlin Syndrome 1
Absent sternal ossification, Lateral clavicle hook, Cryptorchidism, Flat glenoid fossa, Pectus ca... OMIM:224690
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia ORPHA:861
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology ORPHA:3035
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, Hypoplastic nip... OMIM:269860
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs OMIM:608940
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs OMIM:616294
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Pectus excavatum, Cryptorchidism, Thin ribs, Pectus carinatum, Supernumera... OMIM:182212
Dextrocardia
Pancreatic hypoplasia, Abnormal rib morphology ORPHA:1666
Hurler Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Depression ORPHA:93473
Vacterl/Vater Association
Cryptorchidism, Abnormal rib morphology ORPHA:887
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Diabetes insipidus, Cryptorchidism, Abnormal rib morphology, Depression, Sel... ORPHA:534
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Cupped ribs, Flat glenoid fossa, Short ribs, Irregular chondrocostal junctions OMIM:250420
Mucopolysaccharidosis, Type Ivb
Prominent sternum, Ataxia, Flaring of rib cage OMIM:253010
Mucolipidosis Iii Alpha/Beta
Broad ribs, Short ribs OMIM:252600
Multiple Pterygium Syndrome, X-Linked
Thin ribs OMIM:312150
Holzgreve Syndrome
Abnormal rib morphology ORPHA:2167
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254528
Kagami-Ogata Syndrome
Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia, Dysphagia ORPHA:254519
Cartilage-Hair Hypoplasia
Flaring of lower rib cage, Short thorax, Abnormal rib morphology, Pectus carinatum, Narrow chest ORPHA:175
Histidinemia
Hyperactivity ORPHA:2157
Osteogenesis Imperfecta, Type Iii
Thin ribs OMIM:259420
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Missing ribs, Cryptorchidism, Rib f... OMIM:206900
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Aggressive behavior, Precocious puberty, Broad ribs, Abnormal repetitive mannerisms OMIM:301066
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage OMIM:612852
Autosomal Dominant Popliteal Pterygium Syndrome
Cryptorchidism, Abnormal rib morphology ORPHA:1300
Lethal Congenital Contracture Syndrome 5
Thin ribs OMIM:615368
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Osteogenesis Imperfecta
Multiple rib fractures, Ataxia, Pectus excavatum, Abnormal rib morphology, Pectus carinatum, Thin... ORPHA:666
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Abnormal thymus morphology, Thin ribs ORPHA:2463
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Lateral clavicle hook, Long thorax, Narrow chest, Short ribs, Horizontal ribs OMIM:617925
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Short ribs, Missing ribs, Thin ribs OMIM:271520
Aicardi Syndrome
Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Bifid ribs, Delayed puberty ORPHA:50
1P36 Deletion Syndrome
11 pairs of ribs, Cryptorchidism, Hypothyroidism, Polyphagia, Rib fusion, Self-injurious behavior... ORPHA:1606
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Down-sloping shoulders, Cryptorchidism, Rib fusion, Gait disturbance, Hypoplastic... OMIM:265000
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus excavatum, Thin rib... OMIM:600920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs OMIM:618395
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia OMIM:613091
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Posterior rib ... OMIM:117650
Sclerosteosis 1
Broad ribs, Sclerotic scapulae, Broad clavicles OMIM:269500
Xylt1-Cdg
Broad ribs, Short clavicles ORPHA:370930
Familial Osteodysplasia, Anderson Type
Abnormal rib morphology, Aplastic clavicle, Missing ribs ORPHA:2769
Kyphomelic Dysplasia
Lateral clavicle hook, Undulate ribs, Anterior rib cupping, Thoracic hypoplasia OMIM:211350
Nestor-Guillermo Progeria Syndrome
Rib osteolysis, Progressive clavicular acroosteolysis, Decreased serum leptin, Thin ribs OMIM:614008
Osteogenesis Imperfecta, Type Xviii
Thin ribs OMIM:617952
Myhre Syndrome
Precocious puberty, Cryptorchidism, Hypogonadism, Abnormal rib morphology ORPHA:2588
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Ataxia, Pectus excavatum, Pectus carinatum, Depression ORPHA:309282
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Cervical ribs, Thin ribs OMIM:601812
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Absent nipple, Missing ribs, Thin ribs, Narrow chest OMIM:200980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Pectus excavatum, Cryptorchidism, Abn... ORPHA:96334
Trisomy 18
Cryptorchidism, Abnormal rib morphology ORPHA:3380
Charge Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal rib morphology, Abnormality of the adrena... ORPHA:138
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Abnormal rib morphology, Attention deficit hyperactivity disorder, Crypt... ORPHA:818
Acrocapitofemoral Dysplasia
Pectus excavatum, Cupped ribs, Pectus carinatum, Short ribs, Narrow chest OMIM:607778
Gracile Bone Dysplasia
Thin ribs OMIM:602361
Aicardi Syndrome
Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Bifid ribs OMIM:304050
Cantú Syndrome
Broad ribs, Narrow chest ORPHA:1517
Otopalatodigital Syndrome Type 2
Abnormal rib morphology, Narrow chest ORPHA:90652
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs ORPHA:85184
Mucopolysaccharidosis Type 6
Broad ribs ORPHA:583
Occipital Horn Syndrome
Broad clavicles, Pectus excavatum, Pectus carinatum, Narrow chest, Short clavicles, Broad ribs OMIM:304150
Gm1-Gangliosidosis, Type I
Thickened ribs OMIM:230500
Ear-Patella-Short Stature Syndrome
Breast aplasia, Cryptorchidism, Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Craniometadiaphyseal Dysplasia
Broad ribs OMIM:269300
Pyknoachondrogenesis
Enlarged thorax, Short thorax, Short ribs, Horizontal ribs ORPHA:3003
Stuve-Wiedemann Syndrome 1
Thin ribs, Dysphagia OMIM:601559
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Splenopancreatic fusion, Hypoplasia of first ribs, Short sternum, Hypoplastic nip... OMIM:269150
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Down-sloping shoulders, Decreased response to ... OMIM:214800
Bent Bone Dysplasia Syndrome 2
Short sternum, Short ribs, Thin ribs OMIM:620076
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Aggressive behavior, Cryptorchidism, Hypothyroidism, Rib fusion, Congenital hyp... OMIM:607872
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Streak ovary, Abnormal thorax morphology, Central hypothyroidism, D... ORPHA:798
Frontometaphyseal Dysplasia 1
Scapular winging, Coat hanger sign of ribs OMIM:305620
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Broad ribs, Anterior pituitary hypoplasia, Broad clavicles OMIM:151050
Simpson-Golabi-Behmel Syndrome
Supernumerary nipple, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Pancreatic islet... ORPHA:373
Eiken Syndrome
Broad ribs OMIM:600002
Pagod Syndrome
Abnormal clavicle morphology, Abnormal testis morphology, Abnormal rib morphology ORPHA:991
Osteopathia Striata With Cranial Sclerosis
Pectus excavatum, Broad ribs, Thoracolumbar kyphosis, Straight clavicles OMIM:300373
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Ataxia, Cryptorchidism, Abnormal thorax morphology, Rib fusion ORPHA:280
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction ORPHA:79345
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Cryptorchidism, Rib fusion, Pectus carinatum ORPHA:1507
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Cryptorchidism, Rib fusion, Missing ribs OMIM:268310
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Thin ribs OMIM:610915
Fryns Syndrome
Ectopic pancreatic tissue, Cryptorchidism, Thin ribs, Broad ribs, Thoracic hypoplasia OMIM:229850
Cranioectodermal Dysplasia 2
Pectus excavatum, Bile duct proliferation, Short ribs, Narrow chest, Horizontal ribs OMIM:613610
Alagille Syndrome 1
Abnormal rib morphology, Papillary thyroid carcinoma OMIM:118450
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Short ribs, Narrow chest OMIM:250220
Mucopolysaccharidosis, Type Vi
Broad ribs, Prominent sternum, Pectus carinatum OMIM:253200
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Monosomy 9P
Cryptorchidism, Abnormal rib morphology ORPHA:261112
Campomelic Dysplasia
11 pairs of ribs, Thoracic scoliosis, Absent sternal ossification, Hypoplastic scapulae, Pectus c... OMIM:114290
Kindler Epidermolysis Bullosa
Abnormal rib morphology, Dysphagia ORPHA:2908
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Cupped ribs, Abnormal rib cage morphology, Flaring of rib cage OMIM:271640
Ulbright-Hodes Syndrome
Maternal diabetes, Cryptorchidism, Abnormal rib morphology, Thin ribs, Short sternum, Short ribs ORPHA:3404
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs ORPHA:85167
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Prominent floating ribs, Secondary hyperparathyroidism ORPHA:2785
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplastia of the eccrine ... ORPHA:1662
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Cryptorchidism, Undulate ribs, Short clavicles OMIM:609945
X-Linked Hypophosphatemia
Enlargement of the costochondral junction, Rachitic rosary, Beaded ribs ORPHA:89936
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Thoracic hypoplasia, Horizontal ribs OMIM:618019
Weill-Marchesani Syndrome 1
Broad ribs OMIM:277600
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Precocious puberty, Cryptorchidism, Rib fusion, Abnormal sternal ... OMIM:194190
Robinow Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Rib fusion, Missing ribs ORPHA:97360
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Biliary hyperplasia, Cryptorchidism, Thin ribs, Cholelithiasis, Pancreatic hypopl... ORPHA:83617
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Truncal ataxia, Thin ribs, Increased serum testosterone level, Hypoplasia of the ... OMIM:264090
Myhre Syndrome
Broad ribs, Ataxia, Cryptorchidism OMIM:139210
Femoral-Facial Syndrome
Maternal diabetes, Missing ribs, Cryptorchidism, Rib fusion, Sprengel anomaly OMIM:134780
Zttk Syndrome
Cervical ribs, Absent gallbladder, Rib fusion OMIM:617140
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short ribs, Narrow chest, Horizontal ribs, Short clavicles OMIM:617088
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest ORPHA:667
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Cryptorchidism,... OMIM:276820
Coccidioidomycosis
Abnormality of the endocrine system, Broad ribs ORPHA:228123
Weill-Marchesani Syndrome 2
Broad ribs OMIM:608328
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology ORPHA:488434
Mandibuloacral Dysplasia Progeroid Syndrome
Pectus excavatum, Supernumerary ribs, Thin ribs OMIM:619127
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs OMIM:225400
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures OMIM:612301
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Thoracic hypoplasia, Thin ribs OMIM:208150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Rib fusion, Cervical ribs, Dysphagia ORPHA:500150
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Multiple rib fractures, Narrow chest OMIM:610682
Townes-Brocks Syndrome
Hypothyroidism, Abnormal rib morphology, Delayed puberty, Cryptorchidism ORPHA:857
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs ORPHA:217093
Cog1-Cdg
Rib fusion, Posterior rib gap ORPHA:263508
Craniotubular Dysplasia, Ikegawa Type
Broad ribs OMIM:619727
Vater/Vacterl Association
Abnormal sternum morphology, Abnormal rib morphology OMIM:192350
Cardiospondylocarpofacial Syndrome
Rib fusion, Decreased testicular size OMIM:157800
Baller-Gerold Syndrome
Rib fusion OMIM:218600

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 Lamtor4

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 Lamtor4.

No publications found that use IMPC mice or data for Lamtor4.

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
Lamtor4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lamtor4em1(IMPC)Ccpcz Exon Deletion Mice
Lamtor4tm213120(L1L2_Bact_P) Deletion Targeting vectors

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