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Gene: Tmem63b MGI:2387609

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Gene Summary

Name:
transmembrane protein 63b
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Tmem63btm1b(EUCOMM)Wtsi HET Early adult 3.78×10-07
preweaning lethality, complete penetrance Tmem63btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased vertical activity Tmem63btm1b(EUCOMM)Wtsi HET   Early adult 6.08×10-05
limb grasping Tmem63btm1b(EUCOMM)Wtsi HET Early adult 1.36×10-05
increased circulating bilirubin level Tmem63btm1b(EUCOMM)Wtsi HET   Early adult 1.18×10-05
abnormal cornea morphology Tmem63btm1b(EUCOMM)Wtsi HET Early adult 8.27×10-08
short tibia Tmem63btm1b(EUCOMM)Wtsi HET Early adult 1.45×10-06

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote 100% (1 of 1)
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 100% (1 of 1)
Lung N/A homozygote 100% (1 of 1)
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote 100% (1 of 1)
Chorioallantoic placenta N/A heterozygote 100% (1 of 1)
Chorioallantoic placenta N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
placenta 16.67% (7 of 42)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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Embryo LacZ

LacZ images section

1 Images

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Embryo LacZ

LacZ images wholemount

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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Human diseases caused by Tmem63b 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 Tmem63b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Cataract OMIM:618660
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Schizophrenia 15
Hyperactivity OMIM:613950
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia ORPHA:79234
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:3111
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Ectopia lentis OMIM:238700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Malaria
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration ORPHA:673
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Impulsivity, Lethargy, Restlessness OMIM:605899
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia OMIM:271310
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Smith-Magenis syndrome
Hyperactivity, Brachydactyly DECIPHER:8
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Tremor... OMIM:613280
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Hypertriglyceridemia, Dystonia OMIM:615924
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor, Dystonia OMIM:612716
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Talipes equinovarus, Congenital bilateral hip dislocation, Cataract ORPHA:85288
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... OMIM:600501
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, Ataxia OMIM:239500
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Dystonia, Hyperprolinemia, Hyperglutaminemia OMIM:616299
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Idiopathic Congenital Hypothyroidism
Lethargy, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal... ORPHA:95717
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus OMIM:300434
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Hypocalce... OMIM:607143
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor OMIM:618090
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Slc35A2-Cdg
Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Ophthalmomandibulomelic Dysplasia
Megalocornea, Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Opacificatio... OMIM:164900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Ataxia ORPHA:713
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Sensorineural hearing impairm... ORPHA:52368
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... ORPHA:1505
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Broad-based gait OMIM:619470
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based gait, Br... ORPHA:248111
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:95716
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Micrognathia, Clinodactyly, Clinodactyly of the 5th finger, Neonatal hyperbilirubi... ORPHA:73272
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hallux valgus, Hyperopic astigmatism, Cone-shaped epiphyses of the 2nd toe, Cone-s... ORPHA:397973
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly OMIM:300928
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Clinodactyly, Metatarsus adductus, Impulsivity, Neonatal hyperbilirubinemia, Attent... ORPHA:293939
Infantile Sialic Acid Storage Disease
Abnormal foot morphology, Metaphyseal irregularity, Conjugated hyperbilirubinemia OMIM:269920
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Cataract, Attention deficit... OMIM:261600
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... ORPHA:1106
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Tapered finger, Clinodactyly of the 5th finger, Long fingers OMIM:609425
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Spastic Paraplegia 29, Autosomal Dominant
Pes cavus, Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... OMIM:609945
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Orofaciodigital Syndrome Ix
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly OMIM:258865
Autosomal Dominant Spastic Paraplegia Type 29
Pes cavus, Hyperbilirubinemia ORPHA:101009
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger OMIM:619075
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Popliteal pterygium, Mirror image f... OMIM:119800
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia ORPHA:382
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Knee flexion contracture, Tapered finger, Decreased plasma free carnit... OMIM:608836
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder OMIM:619927
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Inability to walk, Difficulty walking, Abnormality of the ankle, Genu val... ORPHA:239
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Opisthotonus OMIM:619685
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Narrow foot, Elevated circulating creatine kinase concent... OMIM:614300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Polyphagia OMIM:609734
Abetalipoproteinemia
Gait ataxia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Keratoconjunctivitis si... ORPHA:14
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hyponatremia, Metaphyseal dysplasia, Hypo... ORPHA:1667
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at... OMIM:619260
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... OMIM:267700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... OMIM:613091
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... ORPHA:1988
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait, Sandal gap, Blue irides OMIM:615516
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... OMIM:600785
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... ORPHA:65759
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... OMIM:616300
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Tip-toe gait, Hypoglutaminemia, Hypertaurinemia, Ataxia, Neonata... ORPHA:3008
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology, Ca... ORPHA:2611
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Lethargy, Conjugated hyperbilirubinemia... OMIM:617156
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Hyperactivity, Advanced ossification of carpal bones, Short metacarpal, ... OMIM:614613
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Developmental cataract, Contracture of the proximal interphalangeal joint of the 5... OMIM:620141
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Iris hypopigmentation, Ataxia, Polyphagia, Broad-based gait ORPHA:411515
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:79303
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hyperkalemia, Ataxia, Cataract, Nuclear cataract, Conjugated hyperbilirubinemia OMIM:608885
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Impulsivity, Dysphagia, Dystonia ORPHA:500180
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Peroxisome Biogenesis Disorder 13A (Zellweger)
Micrognathia, Increased circulating very long-chain fatty acid concentration, Posterior embryotox... OMIM:614887
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Wilson Disease
Pedal edema, Limb dystonia, Decreased circulating ceruloplasmin concentration, Increased circulat... OMIM:277900
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Tibial Hemimelia
Absent tibia OMIM:275220
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:90674
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Resting tremor, Tremor, Broad-based gait ORPHA:3077
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca, Dysphagia ORPHA:411777
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Hyperactivity, Calf muscle hypertrophy, Choreoathetosis, Ataxia, Elevated circula... OMIM:615673
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... OMIM:171480
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Elevated circulating phytanic acid concentration, Micrognathia, Increased circu... OMIM:614866
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... ORPHA:529799
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Increased circulat... ORPHA:90673
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron ORPHA:98870
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Hereditary Cryohydrocytosis With Reduced Stomatin
Zonular cataract, Ataxia, Cataract, Brachydactyly, Conjugated hyperbilirubinemia ORPHA:168577
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Lathosterolosis
Abnormal circulating cholesterol concentration, Toe syndactyly, Micrognathia, Hyperbilirubinemia,... OMIM:607330
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po... OMIM:603671
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Neurotrophic Keratopathy
Corneal scarring, Allodynia, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent c... ORPHA:137596
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... ORPHA:2751
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... ORPHA:96334
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Talipes calcaneovalgus, Conjugated hyperbilirubinemia, Hip dysplasia OMIM:613404
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... OMIM:617925
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Genu valgum, Tip-toe gait, Falls, Hyperbilirubinemia, Torticollis, Agitation, Atax... OMIM:619475
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Osteopetrosis, Autosomal Recessive 5
Hip subluxation, Mydriasis, Micrognathia, Hyperbilirubinemia, Flared metaphysis, Hypocalcemia OMIM:259720
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Citrullinemia Type Ii
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tr... ORPHA:247585
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... OMIM:263520
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
2-3 toe syndactyly, Short 5th finger, Bulbous tips of toes, Hyperextensibility of the finger join... ORPHA:163979
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Hip dysplasia, Conjugated hyperbilirubinemia, Talipes calcaneovalgus OMIM:208085
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Hip dislocation, Short femur, Limb undergrowth, Bifid first metacarpal, Delayed epi... OMIM:210710
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Saul-Wilson Syndrome
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... OMIM:618150
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Talipes calcaneovalgus, Hyperactivity, Dysdiadochokinesis, Impulsivity, Dysmetria, D... OMIM:610217
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hyperbilirubinemia OMIM:224120
Fibrochondrogenesis 1
Megalocornea, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Sma... OMIM:228520
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, Limitation of movement at ankles, Iris hypopigmentation, Ataxia, T... ORPHA:98794
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Hereditary Spherocytosis
Hyperbilirubinemia, Ataxia ORPHA:822
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased circulating ferritin concentration, Neonatal hyperbilirubine... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent cornea... OMIM:256800
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... ORPHA:101085
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hyperactivity, Short foot, Small hand, Toe syndactyly, Clinodactyly of t... ORPHA:85293
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia ORPHA:52503
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Kyphomelic Dysplasia
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Pterygium, Ulnar bowing, Sho... OMIM:211350
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, Lethargy, Punctate keratitis OMIM:557000
Infantile Krabbe Disease
Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Prolonged brainstem... ORPHA:206436
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... ORPHA:198
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:464321
X-Linked Intellectual Disability, Nascimento Type
Clubbing of toes, Developmental cataract, Pes cavus, Overlapping toe, Neonatal hyperbilirubinemia... ORPHA:163956
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... OMIM:609136
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Glycogen Storage Disease Xii
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration OMIM:611881
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Short ribs, Micrognathia, Hyperbilirubinemia, Clinodactyly, Syndactyly, ... OMIM:613610
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Senior-Boichis Syndrome
Increased total bilirubin, Attention deficit hyperactivity disorder, Agitation, Polydipsia ORPHA:84081
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Ogden Syndrome
Metatarsus valgus, Micrognathia, Hyperbilirubinemia, Torticollis, Clinodactyly of the 5th finger,... OMIM:300855
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... OMIM:164745
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Fructose Intolerance, Hereditary
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Lethargy, Bicarbonaturia OMIM:229600
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia, Lethargy OMIM:218700
Degcags Syndrome
Polydactyly, Genu valgum, Preaxial hand polydactyly, Toe syndactyly, Choking episodes, Hyperbilir... OMIM:619488
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Hepatocellular Carcinoma
Pedal edema, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Trisomy 10P
Macrotia, Low voltage EEG, Simplified gyral pattern, Abnormal auditory evoked potentials, Abnorma... ORPHA:171929
Caroli Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:480520
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
Caroli Disease
Conjunctival icterus, Abnormal circulating alpha-fetoprotein concentration, Conjugated hyperbilir... ORPHA:53035
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... OMIM:200980
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... ORPHA:140
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Conjunctival ic... ORPHA:447
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal aud... ORPHA:909
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus ORPHA:1827
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia ORPHA:567983
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... ORPHA:3144
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Keratoconjunctivitis, Un... ORPHA:79277
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... OMIM:236680
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Acrodysostosis With Multiple Hormone Resistance
Short phalanx of finger, Short toe, Hyperactivity, Hyperphosphatemia, Short metacarpal, Absent/hy... ORPHA:280651
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Micrognathia, Elevated ... OMIM:619991
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Polydactyly, Hyperbilirubinemia, Syndactyly, Increased circulating ferrit... OMIM:619534
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Blepharospasm, Akinesia, Abnormal foot morphology, Choreoathetosis, Gait disturban... OMIM:234200
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... OMIM:304120
Argininemia
Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait OMIM:207800
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Agitation ORPHA:99819
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Gait ataxia, Hyperactivity, Micrognathia, 2-4 toe cutaneous syndactyly, Hand tremor, Ataxia, 2-3 ... OMIM:614756
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Charge Syndrome
Hand monodactyly, Short thumb, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sl... OMIM:214800
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Cranioectodermal Dysplasia 1
Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt... OMIM:218330
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... ORPHA:2753
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896

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 Tmem63b

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 Tmem63b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Human and mouse essentiality screens as a resource for disease gene discovery. Nature communications (January 2020) Tmem63btm1b(EUCOMM)Wtsi PMC6994715

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MGI Allele Allele Type Produced
Tmem63btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tmem63btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tmem63btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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