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Gene: Cachd1 MGI:2444177

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Gene Summary

Name:
cache domain containing 1
Synonyms:
1190007F10Rik,  B430218L07Rik,  Vwcd1

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
decreased grip strength Cachd1em1(IMPC)J HET Early adult 6.61×10-06
preweaning lethality, incomplete penetrance Cachd1em1(IMPC)J HOM   Early adult 0.00
increased circulating calcium level Cachd1em1(IMPC)J HET   Early adult 7.28×10-05

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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

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Forepaw

12 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

10 Images

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Human diseases caused by Cachd1 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 Cachd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300496
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300425
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Autism, Susceptibility To, 8
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:607373
Autism
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri... OMIM:608636
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia OMIM:300624
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... ORPHA:251282
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, EEG abnormality, Falls, Inappropriate laughter, Bruxism, Abn... OMIM:619150
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism... OMIM:618718
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300495
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, EEG abnormality, Gait dist... ORPHA:157941
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, EEG abnormality OMIM:617820
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... OMIM:617695
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys... ORPHA:251061
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Dentici-Novelli Neurodevelopmental Syndrome
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment OMIM:619877
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfolded heli... OMIM:619092
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... OMIM:614104
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, EEG abnormality, Self-injurious behavior, Abnormal re... OMIM:618218
Hypophosphatasia
Hypercalcemia ORPHA:436
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... ORPHA:275864
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear... OMIM:618342
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, EEG abnormality, Onychot... OMIM:182290
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... ORPHA:352490
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... ORPHA:411986
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... OMIM:618917
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Christianson Syndrome
Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macrotia, Abnormal repetitive man... ORPHA:85278
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Ogden Syndrome
Abnormal head movements, Macrotia, Low-set ears ORPHA:276432
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Jerky head movements, Dysphagia ORPHA:240103
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... OMIM:600430
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin... OMIM:610883
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple... OMIM:619317
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Huntington Disease-Like 3
Abnormal head movements, Chorea, Broad-based gait, Progressive gait ataxia ORPHA:157946
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment ORPHA:238750
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Abnor... OMIM:600795
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Bilateral conductive hearing impairment, Interictal epileptiform activity, Low-set ears, Dysphagi... OMIM:617802
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Autism, Susceptibility To, 3
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:608049
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy OMIM:619690
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive mannerisms, ... ORPHA:561854
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal r... OMIM:617807
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... ORPHA:3306
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Distal Deletion 10Q
Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi... ORPHA:96148
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L... OMIM:123450
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... OMIM:618430
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention deficit hypera... ORPHA:391372
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... OMIM:617796
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp... ORPHA:64280
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,... ORPHA:168491
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,... OMIM:300260
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical body rock... OMIM:300912
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears OMIM:618205
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking ORPHA:280763
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Large earlobe, Low-set ears, Dysphagia, Conductive hearing impa... OMIM:619312
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... OMIM:610253
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... OMIM:616393
Pheochromocytoma
Hypercalcemia OMIM:171300
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Protruding ear, EEG abnormality, Athetosis, Bruxism, Abnormal repetitiv... OMIM:613454
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... OMIM:610042
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness OMIM:616579
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... OMIM:619293
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Incomplete partition of the cochlea type II OMIM:617660
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... OMIM:619103
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear ORPHA:2479
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Continuous spike and waves dur... OMIM:619428
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Wide anterior fontanel, ... ORPHA:401973
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... OMIM:212066
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Tick-Borne Encephalitis
Facial palsy, Anorexia, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal ner... ORPHA:297
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Smith-Magenis Syndrome
EEG abnormality, Self-injurious behavior, Attention deficit hyperactivity disorder, Conductive he... ORPHA:819
Rett Syndrome
Inability to walk, EEG abnormality, Gait disturbance, Abnormal autonomic nervous system physiolog... ORPHA:778
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... ORPHA:457351
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... ORPHA:435638
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Abnormal re... OMIM:616364
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di... OMIM:619121
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
48,Xxyy Syndrome
Chronic otitis media, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity dis... ORPHA:10
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ... ORPHA:261197
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Dysphagia, Loss of ambulation, Abnormal repetitive... ORPHA:79264
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia, Abnormal repetitive man... OMIM:606232
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... OMIM:615656
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... OMIM:300986
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Wide anterior fontanel, Abnormal temper tantrums, Low-set ears, Abnormal rep... ORPHA:457279
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... ORPHA:468678
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ... OMIM:300352
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... ORPHA:1001
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... OMIM:619575
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Posteriorly rotated ears, Multifocal epileptiform discharges, Hypsarr... OMIM:619229
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Otosclerosis 10
Otosclerosis OMIM:615589
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity... ORPHA:98784
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Abnormality of the in... ORPHA:138
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... ORPHA:649
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Hypsarrhythmia, Protruding ear, Low-set ears, Dysphagia, Abnormal re... ORPHA:447997
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Stenosis of the external auditory ca... ORPHA:233
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r... ORPHA:261494
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Timothy Syndrome
Hypocalcemia OMIM:601005
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal autonomic nervous system physi... ORPHA:300570
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Wide anterior fontanel, Dysphagia, Hypsarrhythm... ORPHA:798
Ppoma
Hypercalcemia ORPHA:97278
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Abnormal repetitive mannerisms, Agitation, Ataxia ORPHA:927
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Macrotia, Optic atrophy, Dysphagia ORPHA:496641
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu... ORPHA:580
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Somatostatinoma
Hypercalcemia ORPHA:97283
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,... ORPHA:96121
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Grfoma
Hypercalcemia ORPHA:97261
Pitt-Hopkins Syndrome
Thickened helices, Self-injurious behavior, Cupped ear, Abnormal repetitive mannerisms OMIM:610954
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... OMIM:301040
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing impairment ORPHA:66634
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... OMIM:619512
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetr... OMIM:617330
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma... OMIM:615485
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Narrow internal auditory ... ORPHA:861
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... OMIM:301066
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Developmental And Epileptic Encephalopathy 2
Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt... OMIM:300672
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Van Esch-O'Driscoll Syndrome
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... OMIM:301030
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Restric... OMIM:619475
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Self-injurious beha... ORPHA:468631
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance ORPHA:213
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Floating-Harbor Syndrome
Restlessness, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsive behaviors, Low-... ORPHA:2044
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Protruding ear, Low-set ears,... OMIM:309590
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Stereotypical body rocking, ... ORPHA:513456
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:618653
Kinsship Syndrome
Abnormal repetitive mannerisms, Low-set ears, Bruxism OMIM:619297
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Sarcoidosis
Hypercalcemia ORPHA:797
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Prot... ORPHA:464311
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Protruding ear, Macrotia, Abnormal repetitive mannerisms ORPHA:464306
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear... OMIM:615873
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... OMIM:620330
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... ORPHA:508498
Arboleda-Tham Syndrome
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atrophy, Promine... OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... OMIM:619325
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... OMIM:619005
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Developmental And Epileptic Encephalopathy 100
Chorea, EEG with photoparoxysmal response, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repe... OMIM:619777
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Polyphagia, E... ORPHA:1606
Sotos Syndrome
Hypercalcemia ORPHA:821
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Nmda Receptor Encephalitis
Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, Chorea, EEG with temporal sharp... ORPHA:217253
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Protruding ear, EEG abnormality, Self-injurious behavior, Atte... ORPHA:534
Ogden Syndrome
Wide anterior fontanel, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, Macrotia... OMIM:300855
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ... OMIM:194190
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal... OMIM:612474
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Superiorly displaced... OMIM:259050
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attention deficit hyperactivity diso... OMIM:619522
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:508533
Proteus Syndrome
Macrotia, Low-set ears, Narrow internal auditory canal ORPHA:744
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Digeorge Syndrome
Hypocalcemia OMIM:188400
Mowat-Wilson Syndrome
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Sensorineural hearing impairme... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairme... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairme... ORPHA:261552
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000

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 Cachd1

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 Cachd1.

No publications found that use IMPC mice or data for Cachd1.

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
Cachd1em1(IMPC)J Exon Deletion Mice
Cachd1tm300440(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cachd1tm36438(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cachd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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