Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
forkhead box I1
Synonyms:
Fkh10,  Hfh3,  HFH-3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxi1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Foxi1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Ataxia, Abnormality of the inner ear... ORPHA:705

The table below shows human diseases predicted to be associated to Foxi1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility OMIM:261550
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Generalized dystonia, Motor stereotypy... ORPHA:98807
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Ataxia, Abnormality of the inner ear... ORPHA:705
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Tremor, Impaired... ORPHA:251282
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment, Renal tubular acidosis, Nephrolithiasis OMIM:267300
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Macrotia OMIM:181180
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Vertigo, Torticollis ORPHA:71518
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Nephropathy OMIM:172500
Pyknoachondrogenesis
Stillbirth OMIM:265880
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Bilateral sensorineural hearing ... OMIM:602722
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Aplasia/Hypoplasia of the cerebell... ORPHA:231169
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Combined Oxidative Phosphorylation Deficiency 11
Renal cyst, Renal tubular acidosis, Renal hypoplasia, Renal dysplasia, Increased serum lactate, L... OMIM:614922
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Low-set ears, Nephropathy, Metabolic acidosis OMIM:613404
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Incomplete partition of the cochlea, Conductive hea... OMIM:303110
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Episodic Ataxia Type 4
Incoordination, Frequent falls, Ataxia, Abnormal head movements, Vertigo ORPHA:79136
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Postlingual sensorineural hearing impairment, Vertigo OMIM:601369
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Low-set ears, Nephropathy, Metabolic acidosis OMIM:208085
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... ORPHA:240103
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Vici Syndrome
Renal tubular acidosis, Ureteral atresia, Cerebellar hypoplasia, Sensorineural hearing impairment... ORPHA:1493
Mohr-Tranebjaerg Syndrome
Ankle clonus, Vestibular dysfunction, Abnormal pyramidal sign, Dystonia, Shuffling gait, Focal dy... ORPHA:52368
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Hyperactivity, Inability to walk, Spastic tetraplegia OMIM:616657
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Clumsiness ORPHA:100973
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bor Syndrome
Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ... ORPHA:107
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Congenital sensorineural hearing impairment ORPHA:79155
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Histidinuria Due To A Renal Tubular Defect
Sensorineural hearing impairment, Impaired histidine renal tubular absorption, Macrotia, Histidin... OMIM:235830
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Histidinuria-Renal Tubular Defect Syndrome
Sensorineural hearing impairment, Impaired histidine renal tubular absorption, Macrotia, Histidin... ORPHA:2158
Gracile Syndrome
Lactic acidosis, Renal Fanconi syndrome, Hearing impairment ORPHA:53693
Kearns-Sayre Syndrome
Sensorineural hearing impairment, Renal tubular acidosis, Renal Fanconi syndrome, Lactic acidosis OMIM:530000
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Sensorineural hearing... OMIM:220110
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Abnorma... ORPHA:382
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Renal tubular acidosis, Cerebellar atrophy, Increased serum lactate, Lactic acidosis, Protruding ... OMIM:615471
Branchiootorenal Syndrome 1
Cupped ear, Incomplete partition of the cochlea type II, Conductive hearing impairment, Sensorine... OMIM:113650
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Distal renal tubular acidosis, Sens... OMIM:146255
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, Sensorineural hea... ORPHA:50815
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... ORPHA:436271
Leigh Syndrome
Generalized aminoaciduria, Renal tubular acidosis, Methylmalonic aciduria, Nephrotic syndrome, Re... ORPHA:506
Hydroxykynureninuria
Metabolic acidosis, Aminoaciduria, Renal tubular dysfunction, Hearing impairment OMIM:236800
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Cupped ear, Hearing impairment OMIM:613398
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Dystonia, Extrapyramidal muscular rigidity, S... ORPHA:157946
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hyperactivity, Ataxia, Spasticity, Myoclonus, Tr... OMIM:615924
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Severe sensorineural hearing impairment, Cerebellar dysplasia OMIM:604213
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Congenital sensorineural hearing impairment, Renal tubular dysfunction OMIM:606528
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Macrotia, Recurrent hand flapping OMIM:300624
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Renal Tubular Acidosis, Proximal
Renal tubular acidosis, Proximal renal tubular acidosis, Hyperchloremic acidosis OMIM:179830
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Decreased serum bicarbonate concentration, Impaired renal tubular reabsorption of bicarbonate, Hy... OMIM:604278
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spastic dysarthria, Head tremor, Impaired vibration sensation in the lower... ORPHA:95433
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Distal Renal Tubular Acidosis
Renal cyst, Hypermagnesiuria, Nephrocalcinosis, Nephrolithiasis, Decreased serum bicarbonate conc... ORPHA:18
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Leigh Syndrome With Cardiomyopathy
Renal agenesis, Abnormal renal tubule morphology, Renal tubular acidosis, Renal dysplasia, Increa... ORPHA:70474
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements OMIM:245348
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Renal tubular acidosis, Low-set ears, Sensorineural hearing impairment, M... OMIM:619575
Crouzon Syndrome
Cerebellar hypoplasia, Conductive hearing impairment, Chiari malformation, Narrow internal audito... ORPHA:207
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Chiari malformation, Morphologic... ORPHA:87
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Microtia, first degree, Aplasia of the inner ear, Profound sensorineural hearing... OMIM:610706
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Synotia, ... ORPHA:990
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
Gorham-Stout Disease
Abnormality of the internal auditory canal, Chiari type I malformation, Hearing impairment ORPHA:73
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Hearing impairment, Head tremor, Fasciculations, Ataxia... ORPHA:276198
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Cryptorchidism, Male pseudohermaphroditism, Ambiguous... ORPHA:752
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Low-set ears, Dilated fourth ventricle, Cerebellar hypoplasia, Sensorineura... OMIM:617751
Pyruvate Carboxylase Deficiency
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis OMIM:266150
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Renal tubular acidosis, Organic aciduria, Stress/infection-induced lactic aci... ORPHA:431361
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Inability to walk, Dystonia, Chorea OMIM:618760
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Leigh Syndrome With Nephrotic Syndrome
Renal cyst, Renal tubular acidosis, Nephrotic syndrome, Severe lactic acidosis, Tubulointerstitia... ORPHA:255249
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Macrotia, Hyperkinetic movements, Hearing impairment OMIM:617302
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidi... ORPHA:248111
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hyperchloremic ... OMIM:611590
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Distal Monosomy 10Q
Abnormality of the outer ear, Horseshoe kidney, Low-set ears, Functional abnormality of the bladd... ORPHA:96148
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Renal tubular acidosis, Nephrocalcinosis OMIM:239199
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Gait ataxia, Posteriorly rotated ears, Macrotia OMIM:609425
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Motor stereotypy, Hyperactivity, Spasticity, Chorea ORPHA:88616
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Distal renal tubular acidosis, Conductive hearing impair... ORPHA:2785
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, ... ORPHA:2088
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Metabolic acidosis, Proximal renal tubular acidosis OMIM:615824
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Impaired pain sensation, Inabili... ORPHA:3095
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Hypertonia, Low-set ears, Motor stereotypy, Hyperactivity, Cerebr... ORPHA:352490
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Ataxia, Tremor OMIM:300983
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Multicystic kidney... ORPHA:93111
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Ataxia, Poor coordination, Abnormality of pain sensation, Recurrent hand flappin... ORPHA:544254
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Dystonia, Motor stereotypy, Spastic dysarthria, Spasticity, Babin... ORPHA:280763
Christianson Syndrome
Dystonia, Motor stereotypy, Gait ataxia, Macrotia, Truncal ataxia, Death in early adulthood ORPHA:85278
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Broad-based gait, Tremor OMIM:619470
Gitelman Syndrome
Tinnitus, Diabetic ketoacidosis, Renal tubular acidosis, Renal Fanconi syndrome, Decreased urinar... ORPHA:358
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Hyperactivity, Inability to walk, Spasticity, Tremor OMIM:618718
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity, Spastic paraplegia... OMIM:609727
Foxg1 Syndrome
Dystonia, Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Spas... ORPHA:561854
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Impaired urinary acidification, Nephrolithiasis, Distal renal tubular acidosis OMIM:179800
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis ORPHA:156
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Spastic tetraparesis, Hemiparesis, Hypertonia OMIM:604317
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis OMIM:255120
Alagille Syndrome 1
Renal tubular acidosis, Multiple small medullary renal cysts, Renal hypoplasia, Renal dysplasia, ... OMIM:118450
Renal Tubular Acidosis Iii
Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Absent brainstem auditory... OMIM:609136
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, Chronic k... ORPHA:3337
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sensorineural hearing ... ORPHA:1435
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment ORPHA:457260
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Hyperactivity, Ataxia, Macrotia, Gait disturbance, T... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 61
Low-set ears, Hyperactivity, Spasticity, Posteriorly rotated ears, Babinski sign OMIM:617773
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Macrotia, Gait disturbance, Upper limb spasticity, Hyperkinetic movements, Tremor ORPHA:457240
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Metabolic ketoacidosis, Proteinuria ORPHA:263455
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Dystonia, Impaired pain sensation, Hyperactivity, Inability to walk, Lim... ORPHA:500180
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Microtia, Bilateral sensorineural hearing impairment, Apl... ORPHA:2306
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Ogden Syndrome
Shuffling gait, Low-set ears, Abnormal head movements, Macrotia, Torticollis, Hypertonia ORPHA:276432
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Noonan Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the semicircular ... ORPHA:648
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Lactic acidosis, Myoglobinuria, Polycystic ovaries ORPHA:79240
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Poor gross motor coordination, Ataxia, Unsteady gait... ORPHA:228360
Glycine Encephalopathy
Death in infancy, Hyperactivity, Myoclonus OMIM:605899
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Lactic acidosis, Myoglobinuria, Polycystic ovaries ORPHA:264580
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Motor stereotypy, Prominent ear helix, Inability to walk, Myoclonus ORPHA:411986
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Stereotypical hand wringing, Inability to walk, Gait ataxia, Spasticity, Chorea OMIM:618917
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Low-set ears OMIM:618342
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Nephrocalcinosis, Nephrolithiasis, Hematuria, Proteinuria, Hype... ORPHA:534
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Juvenile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Proteinuria, Proximal tubulopathy, Chronic kidney disease, Lo... ORPHA:411634
Charge Syndrome
Horseshoe kidney, Patent ductus arteriosus, Micropenis, Hydronephrosis, Microtia, External ear ma... ORPHA:138
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Polycystic ovaries ORPHA:370
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Hyperactivity, Lower limb spasticity, Broad-based g... ORPHA:3077
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Recurrent otitis media, Patent ductus arteriosus, Cerebellar hypoplasia, Se... ORPHA:500159
Coffin-Siris Syndrome 7
Recurrent otitis media, Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Hearing ... OMIM:618027
Familial Hypoaldosteronism
Metabolic acidosis, Renal salt wasting, Proximal renal tubular acidosis, Decreased urinary potassium ORPHA:427
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Incoordination, Somatic sensory dysfunction, Paralysis, Progressi... ORPHA:43
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia OMIM:615541
4Q21 Microdeletion Syndrome
Motor stereotypy, Low-set ears, Hearing impairment, Tremor ORPHA:238750
Leber Congenital Amaurosis 1
Eye poking, Sensorineural hearing impairment OMIM:204000
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Poor mo... ORPHA:363400
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Gait disturbance, Abnormality o... ORPHA:275864
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Choreoathetosis, Inability to walk, Limb hypertonia, Ataxia, Recurrent hand flappin... OMIM:619580
Infantile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Low-molecular-w... ORPHA:411629
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis, Motor stereotypy, Paroxysmal dyskinesia, Conductive hearing impairment... ORPHA:261197
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Impaired pain sensation, Difficulty walking, Gait disturbance ORPHA:505652
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Saethre-Chotzen Syndrome
Low-set ears, Prominent crus of helix, Conductive hearing impairment, Sensorineural hearing impai... ORPHA:794
48,Xxyy Syndrome
Motor stereotypy, Tremor, Ataxia, Chronic otitis media, Attention deficit hyperactivity disorder ORPHA:10
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Sensorineural hearing impairment, Microtia, Aplasia of the inner ear, Hearing impairment ORPHA:90024
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Hyperactivity, Unsteady gait OMIM:615516
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Myoclonus ORPHA:2382
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Apraxia, Hyperactivity, Inability to walk, Hoffmann sign, Ataxia... ORPHA:139396
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment OMIM:300958
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hyperactivity, Tetraplegia, Hearing impairment ORPHA:369939
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent otitis media, Abnormality of the ear, Repetitive compulsive behavior, Spasticity, Oromo... ORPHA:391372
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Macrotia, Recurrent hand flapping OMIM:617268
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... OMIM:301013
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Episodic metabolic acidosis, Renal Fanconi syndrome, Nephr... OMIM:219800
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent otitis media, Hemidystonia, Recurrent hand flapping, Speech apraxia, Posteriorly rotate... OMIM:619680
Fructose Intolerance, Hereditary
Glycosuria, Bicarbonaturia, Hyperuricosuria, Proximal tubulopathy, Hyperphosphaturia, Lactic acid... OMIM:229600
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Spastic paraparesis, Ataxia, Cerebral palsy, Spa... ORPHA:760
Childhood Absence Epilepsy
Punding, Limb myoclonus, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis OMIM:616457
Lamb-Shaffer Syndrome
Upper motor neuron dysfunction, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Abnormal helix morphology, Spasticity, Protruding ear, Hearing im... ORPHA:401777
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Low-set ears, Proteinuria, Chro... OMIM:210550
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Tics, Broad-based gait, Hypertonia OMIM:617865
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Dystonia, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, Oculogy... ORPHA:208447
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy ORPHA:3306
22Q11.2 Duplication Syndrome
Motor stereotypy, Anterior creases of earlobe, Hearing impairment, Attention deficit hyperactivit... ORPHA:1727
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Dystonia, Motor stereotypy, Oculogyric crisis, Spasticity, Chorea ORPHA:178469
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Loss of ability to walk, Poor motor coordinatio... ORPHA:79264
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Motor stereotypy, Hyperactivity, Inability to walk, Ataxia, Spasticity, Gait ... ORPHA:168491
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Landau-Kleffner Syndrome
Frequent falls, Hyperactivity, Steppage gait, Speech apraxia, Gait ataxia, Slurred speech, Attent... ORPHA:98818
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Rett Syndrome
Dystonia, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Bradykinesia, Limb ap... ORPHA:778
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Irregular menstruation, Primary amenorrhea, Precocious puberty in females,... ORPHA:90793
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Motor stereotypy, Hyperactivity, Recurrent hand flapping, Macrotia, Atten... ORPHA:449291
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Motor stereotypy ORPHA:228402
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Clonus, Chorea, Clumsiness, Abn... OMIM:615673
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Recurrent hand flapping, Tongue thrusting, Myoclonus, Gait imbalance, Broa... ORPHA:98794
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Hearing impairment OMIM:560000
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Athetosis, Limb hypertonia, Limb dystonia, Ton... OMIM:608643
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Motor stereotypy, Sensorineural hearing impairment, Ataxia, Attenti... ORPHA:435638
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Spasticity, Hyperactivity OMIM:615286
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Renal Fanconi syndrome, Hypercalciuria, Complex organic aciduria, Lact... OMIM:557000
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Microtia, Abnormal pinna morphology,... ORPHA:83463
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Low-set ears, Motor stereotypy, Spastic tetraplegia, Sensorineural hearing impairment, ... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity, Macrotia OMIM:300558
Distal Xq28 Microduplication Syndrome
Microtia, Absent antihelix, Tip-toe gait, Stereotypical body rocking, Attention deficit hyperacti... ORPHA:293939
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Spasticity, Recurrent hand flapping OMIM:618859
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Lower limb spasticity, Unsteady gait, Progressive cerebellar ataxia, Chorea, Upper... ORPHA:485350
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Involuntary movements, Hemidystonia, Hemiparesis, Attention def... ORPHA:1929
Adenylosuccinase Deficiency
Opisthotonus, Low-set ears, Hyperactivity, Inability to walk, Gait ataxia, Spasticity, Myoclonus OMIM:103050
Alazami Syndrome
Stereotypical hand wringing, Low-set ears, Motor stereotypy ORPHA:319671
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Gait ataxia, Spasticity, Chor... OMIM:610217
Duane Retraction Syndrome
Ectopic kidney, Hearing impairment, Sensorineural hearing impairment, External ear malformation, ... ORPHA:233
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Bicarbonaturia, Proteinuria, Hyperphosphaturia, Aminoaciduria, Renal insu... OMIM:309000
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Hyperkinetic movements OMIM:271980
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Low-set ears, Inability to walk, Lower limb spasticity, Ataxia, R... OMIM:300260
Schinzel-Giedion Syndrome
Large earlobe, Abnormality of the outer ear, Renal cyst, Abnormality of the ureter, Abnormal heli... ORPHA:798
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Renal insufficie... OMIM:276700
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity dis... ORPHA:98784
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Microtia, Posteriorly rotated ears, Low-set ears OMIM:618089
Smith-Magenis Syndrome
Abnormality of the outer ear, Impaired pain sensation, Hyperactivity, Morphological abnormality o... OMIM:182290
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, Ambiguous genital... ORPHA:1772
Charge Syndrome
Renal agenesis, Cupped ear, Horseshoe kidney, Low-set ears, Patent ductus arteriosus, Micropenis,... OMIM:214800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, Impaired pain sensation, Chronic otitis media, G... ORPHA:819
X-Linked Creatine Transporter Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Chorea, Hypertonia ORPHA:52503
Transketolase Deficiency
Motor stereotypy, Hearing impairment, Attention deficit hyperactivity disorder ORPHA:488618
Tick-Borne Encephalitis
Tinnitus, Hearing impairment, Abnormality of the medulla oblongata, Vertigo, Abnormality of the v... ORPHA:297
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Motor stereotypy ORPHA:397612
Mend Syndrome
Hyperactivity, Low-set ears, Hypertonia OMIM:300960
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Action tremor, Dystonia, Lower limb spasticity, Ataxia, Bilateral... ORPHA:66634
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Tetraplegia, Spasticity, Macrotia,... ORPHA:496641
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... ORPHA:73272
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Sensorineural hearing impairment, Ataxia, Protruding ear ORPHA:2479
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe OMIM:300143
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, Hyperactivity, Tremor, Ataxia, Unsteady gait, Attention deficit hyperact... ORPHA:1942
Otosclerosis 10
Otosclerosis OMIM:615589
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia, 3-Methylglutaric aciduria OMIM:250951
Brain-Lung-Thyroid Syndrome
Incoordination, Dystonia, Choreoathetosis, Intention tremor, Apraxia, Sensorineural hearing impai... ORPHA:209905
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Low-set ears, Micropenis, Cerebellar hypoplasia, Posteriorly rotated ears OMIM:617822
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Beta 2-microglobulinuria, Sterile pyuria, Decre... ORPHA:91500
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Abnormal antihelix morphology, Protruding ear ORPHA:261144
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Hyperactivity, Ataxia, Poor coordination, Spasticity, Posteriorly rotated ears OMIM:618430
Infantile Neuroaxonal Dystrophy
Spastic tetraparesis, Abnormal pyramidal sign, Dystonia, Hyperactivity, Ataxia, Unsteady gait, Sp... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Hyperactivity, B... OMIM:234200
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Sensorineural hearing impairment, Inability to walk, Limb hypertonia, Limb dyst... ORPHA:457351
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis OMIM:259730
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Low-set ears, Hyperactivity, Spastic paraparesis, Ataxia, Macrotia, Hearing impai... ORPHA:369891
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Hyperactivity, Ataxia, Posteriorly rotated ears, Hypertonia OMIM:601853
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:313892
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Hyperactivity, Chronic otitis media, Hearing impairment ORPHA:412035
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Hepatic peripo... OMIM:231680
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Pain insensitivity, Hyperactivity OMIM:600430
16P11.2P12.2 Microdeletion Syndrome
Low-set ears, Impaired pain sensation, Hyperactivity, Tics, Chronic otitis media, Abnormal pinna ... ORPHA:261211
Sandifer Syndrome
Torticollis, Abnormal head movements ORPHA:71272
Familial Renal Glucosuria
Glycosuria, Recurrent urinary tract infections, Renal tubular dysfunction, Nephropathy ORPHA:69076
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Athetosis, Tongue thrusting, Spasticity, Chorea, Protruding ear OMIM:613454
Hyperlysinemia
Spastic tetraparesis, Dysmetria, Opisthotonus, Hypoplasia of the antihelix, Hypoplastic helices, ... ORPHA:2203
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Motor stereotypy ORPHA:927
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Nephrotic syndrome, Proteinuria, Proximal tubulopathy, Macrotia, Olivopontocerebellar... OMIM:212065
Treacher-Collins Syndrome
Patent ductus arteriosus, Conductive hearing impairment, Microtia, Hypoplasia of penis, Narrow in... ORPHA:861
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Intellectual Developmental Disorder, X-Linked 98
Stereotypical hand wringing, Hyperactivity, Lower limb spasticity, Ataxia, Recurrent hand flappin... OMIM:300912
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Low-set ears, Motor stereotypy, Hyperactivity, Lower limb spasticity, Clonus, P... ORPHA:447997
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tongue fasciculations, Protruding ear ORPHA:166108
Kohlschutter-Tonz Syndrome-Like
Stereotypical hand wringing, Death in adolescence, Inability to walk, Lower limb spasticity, Atax... OMIM:619229
2Q37 Microdeletion Syndrome
Motor stereotypy, Conductive hearing impairment, Attention deficit hyperactivity disorder ORPHA:1001
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertonia, Ataxia, Recurrent hand flapping, Gait disturbance, Attention deficit hyperactivity di... OMIM:300986
Angelman Syndrome Due To A Point Mutation
Ataxia, Recurrent hand flapping, Tongue thrusting, Gait imbalance, Broad-based gait ORPHA:411511
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Renal insuffic... OMIM:134600
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Moderate albuminuria, Renal tubular dysfunction, Abnormality of the upper urinary tra... ORPHA:99885
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Hem... ORPHA:447
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Progressive spastic paraplegia, Shuffling gait, Hyperactivity, Lower limb hypertonia, Spasticity,... OMIM:300534
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Myoclonus, Hypertonia ORPHA:289266
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Low-set ears, Unsteady gait ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Spasticity, Macrotia OMIM:300486
7Q11.23 Microduplication Syndrome
Large earlobe, Dysmetria, Motor stereotypy, Hyperactivity, Unsteady gait, Low-set, posteriorly ro... ORPHA:96121
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, Hyperactivity, Lower limb spasticity, Ataxia, Cerebral palsy ORPHA:163681
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Attention deficit hyperactivity disorder, Motor stereotypy, Tremor ORPHA:476126
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
White-Sutton Syndrome
Abnormality of the outer ear, Incoordination, Motor stereotypy, Sensorineural hearing impairment,... ORPHA:468678
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Repetitive compulsive behavior, Dystonia, Choreoathetosis, Motor stereotypy, Athet... ORPHA:522077
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Renal cyst, Nephrocalcinosis, Low-set ears, Conductive hearing i... ORPHA:2044
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Angelman Syndrome
Hyperactivity, Inability to walk, Ataxia, Recurrent hand flapping, Tongue thrusting, Myoclonus, B... ORPHA:72
Phelan-Mcdermid Syndrome
Hearing impairment, Impaired pain sensation, Unsteady gait, Tongue thrusting, Macrotia, Protrudin... OMIM:606232
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Hearing impairment OMIM:252920
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Low-set ears, Hyperactivity, Microtia, Tongue thrusting, Stereotypical bo... ORPHA:261323
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hearing impairment OMIM:252900
Cystinosis
Motor stereotypy, Abnormal pyramidal sign, Gait disturbance ORPHA:213
Norrie Disease
Abnormal helix morphology, Sensorineural hearing impairment, Macrotia, Protruding ear, Abnormal c... ORPHA:649
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Mccune-Albright Syndrome
Renal tubular dysfunction, Hyperphosphaturia, Ovarian cyst, Hearing impairment, Renal phosphate w... ORPHA:562
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Hyperactivity, Broad-based gait, Tremor ORPHA:85293
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Gait imbalance, Broad-based gait ORPHA:98795
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Spasticity, Ataxia OMIM:610042
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction, Low-set ears ORPHA:37553
Angelman Syndrome
Hyperactivity, Limb tremor, Progressive gait ataxia, Clumsiness, Broad-based gait OMIM:105830
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hearing impairment OMIM:252930
Isolated Complex I Deficiency
Proximal tubulopathy, Sensorineural hearing impairment, Lactic acidosis ORPHA:2609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar dysplasia, Low-set ears, Cerebellar hypoplasia, Atresia of the external auditory canal... OMIM:236670
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Cerebellar dysplasia, Cerebellar atrophy, Patent ductus arteriosus, Hy... ORPHA:487796
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Kleefstra Syndrome
Thickened helices, Chronic otitis media, Hearing impairment, Motor stereotypy ORPHA:261494
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Macrotia, Speech apraxia OMIM:618505
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Jerky head movements, Hearing impairment ORPHA:369837
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Clonus, Otitis media, Protruding ear, Repetitive compulsive behavior, Isometric tremor,... OMIM:619475
Bainbridge-Ropers Syndrome
Low-set ears, Inability to walk, Recurrent hand flapping, Posteriorly rotated ears, Death in infa... OMIM:615485
Glass Syndrome
Hyperactivity, Broad-based gait, Low-set ears OMIM:612313
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Mucopolysaccharidosis Type 3
Abnormal pyramidal sign, Hypertonia, Vocal cord paresis, Conductive hearing impairment, Sensorine... ORPHA:581
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency ORPHA:289916
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Renal tubular dysfunction, Patent ductus arteriosus OMIM:614886
Legius Syndrome
Dystonia, Hearing impairment, Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivi... ORPHA:137605
Stankiewicz-Isidor Syndrome
Low-set ears, Hyperactivity, Hearing impairment OMIM:617516
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Congenital posterior urethral valve, Hypospadias OMIM:136140
Bainbridge-Ropers Syndrome
Hypertonia, Inability to walk, Recurrent hand flapping ORPHA:352577
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Motor stereotypy, Low-set, posteriorly rotated ears, Bilateral sensorine... ORPHA:468631
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Dysmetria, Hand tremor, Low-set ears, Hyperactivity, Poor gross motor coordination, At... OMIM:614756
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Chronic acidosis, Renal tubular dysfunction, Hyperphosphat... OMIM:227810
Cardiofaciocutaneous Syndrome 1
Large earlobe, Low-set ears, Oculomotor apraxia, Tongue thrusting, Posteriorly rotated ears, Ante... OMIM:115150
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Hyperactivity, Macrotia, Gait disturbance, Protruding ear ORPHA:464306
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Gait disturbance, Attention deficit hyperactivity disorder, Protruding ear ORPHA:464311
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Recurrent otitis media, Repetitive compulsive behavior, Motor stereot... ORPHA:513456
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hearing impairment, Tongue thrusting, Underdeveloped superior crus of antihelix, Hemiparesis, Pos... ORPHA:369950
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Choreoacanthocytosis
Phonic tics, Hyperkinetic movements, Impaired vibratory sensation, Hyperactivity, Involuntary mov... ORPHA:2388
Wiedemann-Steiner Syndrome
Hyperactivity, Low-set ears, Motor stereotypy ORPHA:319182
Crome Syndrome
Cerebellar dysplasia, Renal tubular epithelial necrosis OMIM:218900
Brooks-Wisniewski-Brown syndrome
Cupped ear, Low-set ears, Hyperactivity, Poor coordination, Posteriorly rotated ears, Protruding ... OMIM:300612
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypercalciuria, Calcium nephrolithiasis, Renal tubular dysfunction, Renal phosphate wasting OMIM:241530
Nmda Receptor Encephalitis
Dystonia, Choreoathetosis, Opisthotonus, Oculogyric crisis, Motor stereotypy, Involuntary movemen... ORPHA:217253
Mgat2-Cdg
Prominent antihelix, Stereotypical hand wringing, Low-set, posteriorly rotated ears, Posteriorly ... ORPHA:79329
Joubert Syndrome 1
Hemifacial spasm, Low-set ears, Hyperactivity, Ataxia, Oculomotor apraxia OMIM:213300
Mucopolysaccharidosis Type 2
Motor stereotypy, Conductive hearing impairment, Hyperactivity, Sensorineural hearing impairment,... ORPHA:580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Inability to walk, Opisthotonus, Hypertonia ORPHA:508533
Dpagt1-Cdg
Hypertonia, Inability to walk, Akinesia, Ataxia, Stereotypical body rocking, Hearing impairment, ... ORPHA:86309
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Elevated serum anion gap, Lactic ac... ORPHA:31826
Pyruvate Carboxylase Deficiency
Abnormal pyramidal sign, Dystonia, Ataxia, Recurrent hand flapping, Tip-toe gait, Tremor ORPHA:3008
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Hearing impairment, Cerebellar vermis hypoplasia ORPHA:98889
Proteus Syndrome
Renal cyst, Low-set ears, Long penis, Enlarged polycystic ovaries, Narrow internal auditory canal... ORPHA:744
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Spastic tetraparesis OMIM:619179
Argininemia
Frequent falls, Spastic gait, Hyperactivity, Spastic paraparesis, Progressive spastic quadriplegia OMIM:207800
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Repetitive compulsive behavior, Parkinsonism OMIM:607485
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Bloom Syndrome
Azoospermia, Oligospermia, Premature ovarian insufficiency, Male infertility ORPHA:125
Hypophosphatemic Rickets, X-Linked Dominant
Renal tubular dysfunction, Renal phosphate wasting OMIM:307800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Motor stereotypy ORPHA:508498
Cog1-Cdg
Low-set, posteriorly rotated ears, Cerebellar dysplasia, Microtia, Cerebellar vermis hypoplasia ORPHA:263508
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:177907
1P36 Deletion Syndrome
Motor stereotypy, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-... ORPHA:1606
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hearing impairment, Stereotypical hand wringing, Ataxia, Gait disturbance, Protruding ear, Broad-... ORPHA:268261
Early Infantile Epileptic Encephalopathy
Dystonia, Choreoathetosis, Hyperactivity, Spasticity, Episodic ataxia, Myoclonus, Tremor ORPHA:1934
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Conductive hearing impairment, Hyperactivity, Sensorineural hearing impairment,... ORPHA:353281
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Increased serum lactate, Lactic acidosis, Renal tubular dysfunction OMIM:616539
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Motor stereotypy, Conductive hearing impairment, Hyperactivity, Sensorineural heari... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Motor stereotypy, Conductive hearing impairment, Hyperactivity, Sensorineural heari... ORPHA:353277
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Cerebellar dysplasia, Abnormal pons morphology, D-2-hydroxyglutaric ac... ORPHA:99646
Noonan Syndrome 1
Cryptorchidism, Hypospadias, Male infertility, Hypogonadism OMIM:163950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Stereotypical hand wringing, Involuntary movements, Inability to walk, Myoclonus, Exagg... ORPHA:438213
Tuberous Sclerosis Complex
Hyperactivity, Repetitive compulsive behavior, Attention deficit hyperactivity disorder ORPHA:805
Mowat-Wilson Syndrome
Recurrent otitis media, Uplifted earlobe, Motor stereotypy, Conductive hearing impairment, Sensor... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Uplifted earlobe, Motor stereotypy, Sensorineural hearing impairment, Imp... ORPHA:261537
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Recurrent otitis media, Low-set ears, Chronic otitis media, Macrotia, Tip-toe gait, Stereotypical... OMIM:619503
Histidinemia
Hyperactivity ORPHA:2157
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Recurrent otitis media, Uplifted earlobe, Motor stereotypy, Sensorineural hearing impairment, Imp... ORPHA:261552
Cystic Fibrosis
Male infertility OMIM:219700