Gene Summary

Name:
fibroblast growth factor 3
Synonyms:
Fgf-3,  Int-2,  Int-P

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Fgf3tm4b(EUCOMM)Hmgu HOM   Early adult 0.00
enlarged lymph nodes Fgf3tm4b(EUCOMM)Hmgu HET Early adult 0.00
abnormal embryo size Fgf3tm4b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal embryo size Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal tail morphology Fgf3tm4b(EUCOMM)Hmgu HOM E12.5 0.00
unresponsive to tactile stimuli Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
unresponsive to tactile stimuli Fgf3tm4b(EUCOMM)Hmgu HET E18.5 0.00
abnormal tail morphology Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
no spontaneous movement Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Fgf3 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 Fgf3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fgf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Abnormal temper tantrums, Childhood onset sensorineural hearing imp... ORPHA:251061
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Accelerated skeletal maturation, Ataxia... OMIM:620270
Distal Deletion 10Q
Postnatal growth retardation, Spina bifida occulta, Facial diplegia, Low-set ears, Cochlear malfo... ORPHA:96148
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Fragile X Syndrome
Hyperactivity, Scoliosis, Recurrent hand flapping, Macrotia, Joint hypermobility, Abnormal head m... OMIM:300624
Apert Syndrome
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Vertebral segmentation defect, Ce... ORPHA:87
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements ORPHA:71518
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Ataxia, Aggressive behavior OMIM:300983
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action... ORPHA:98807
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Torticollis, Abnormality of the internal auditory canal, ... ORPHA:73
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Hyperactivity, Anteverted ears, Short stature, Macrotia, Motor stereotypy, Aggres... OMIM:615541
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Hearing impairment, Dystonia, Neonatal death, Flexion contracture, Intra... OMIM:618237
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Distal sensory impairmen... OMIM:609136
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the 5th finger, Hyperactivity, Scoliosis, Low-set ears, Compulsive behaviors... ORPHA:352490
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Hydrocephalus, Ataxia, Motor stereotypy, Attention deficit hyperac... OMIM:618709
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal cranial nerve morp... ORPHA:2345
Autism, Susceptibility To, 8
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:209850
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism,... OMIM:618718
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Episodic Ataxia Type 4
Vertigo, Abnormal head movements ORPHA:79136
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Athetosis, Abnormal head movements, Dystonia, Ataxia, Self-injurious behav... ORPHA:382
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Epilepsy With Eyelid Myoclonia
EEG with spike-wave complexes, Continuous spike and waves during slow sleep, Interictal epileptif... ORPHA:139431
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia, Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Tremor, Low-set ears, Thoracic kyphosis, Gait ataxia, Ataxia, Large f... OMIM:619092
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Jerky head movements, Impaired proprioception, Impaired vibration sensation in the l... ORPHA:251282
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, He... ORPHA:95433
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Profound sensorineural hearing impairment, Self-injurious behavior, Absent internal auditory cana... OMIM:620469
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Death in childhood, Bruxism, Tremor, Bilateral sensorineural hearing impairment, G... OMIM:619422
Crouzon Syndrome
Optic atrophy, Hydrocephalus, Multiple suture craniosynostosis, Hearing impairment, Conductive he... ORPHA:207
Wildervanck Syndrome
Hearing impairment, Fused cervical vertebrae, Pseudopapilledema, Abnormality of the outer ear OMIM:314600
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, ... OMIM:182290
Christianson Syndrome
Death in early adulthood, Truncal ataxia, Gait ataxia, Macrotia, Inappropriate laughter, Dystonia... ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Short stature, Macrotia, I... OMIM:614104
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Low-set ears, Kyphosis, Hearing impairment, Short neck, Growth delay, Motor st... ORPHA:238750
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Abnormal pinna morphology, Short stature, Cam... ORPHA:915
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Hydrocephalus, Tremor, Elbow flexion contracture, Motor stereotypy,... OMIM:619470
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Chorea, Scoliosis, Low-set ears, Impulsivity, Gait ataxia, Short stature, Genu var... OMIM:620445
Charge Syndrome
Delayed puberty, Abnormal pinna morphology, Microtia, Dysphagia, Umbilical hernia, Intrauterine g... ORPHA:138
Kbg Syndrome
Scoliosis, Bilateral conductive hearing impairment, Thoracic kyphosis, Persistent open anterior f... ORPHA:2332
Ogden Syndrome
Postnatal growth retardation, Torticollis, Delayed cranial suture closure, Scoliosis, Low-set ear... ORPHA:276432
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608636
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Tremor, Low-set ears, Attention deficit hyperact... OMIM:618342
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... OMIM:214300
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Craniosynostosis, Cervical spinal canal stenosis, Tarsal synostosis, Scoliosis... OMIM:178110
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Facial palsy, Congenital sensorineural hearing impairment,... ORPHA:3456
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Scoliosis, Low-set ears, Kyphosis, Short stature, Umbilical hernia, Intrauterine g... OMIM:615834
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Gait ataxia, Short stature, Dysphagia, Motor stereotypy, Hand tremor OMIM:617862
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Scoliosis, Low-set ears, Compulsive behaviors, Recurrent hand flapping, Attention deficit hyperac... OMIM:620021
Noonan Syndrome
Osteopenia, Postnatal growth retardation, Low-set, posteriorly rotated ears, Sensorineural hearin... ORPHA:648
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Abnormal antihelix morphology, Sensorineura... ORPHA:794
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Somatic sensory dysfunction, Abnormality of the twelf... ORPHA:268882
Ck Syndrome
Kyphoscoliosis, Hyperactivity, Posteriorly rotated ears, Joint hypermobility, Lumbar hyperlordosi... ORPHA:251383
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Low-set ears, Abnormal cervical curvature, Flexion contract... OMIM:312150
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Tracheobronchomalacia, S... OMIM:617751
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Short stature, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Attention deficit hype... OMIM:617695
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy, Short stature OMIM:300271
Ck Syndrome
Hyperactivity, Scoliosis, Hyperlordosis, Kyphosis, Posteriorly rotated ears, Joint hypermobility,... OMIM:300831
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Scoliosis, Wormian bones, Low-set ears, Abnormality of the middle ear... OMIM:130720
Distal Renal Tubular Acidosis
Polydipsia, Rickets, Reduced bone mineral density, Bone pain, Sensorineural hearing impairment, S... ORPHA:18
Coffin-Siris Syndrome 6
Kyphoscoliosis, Wormian bones, Low-set ears, Short stature, Conductive hearing impairment, Poster... OMIM:617808
Cardiospondylocarpofacial Syndrome
Recurrent otitis media, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Low-set ears, Fus... OMIM:157800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Small earlob... ORPHA:93315
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Xq21 Microdeletion Syndrome
Optic atrophy, Postnatal growth retardation, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:1435
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Low-set ears, Abnormal cervical curvature, Flexion contract... OMIM:253290
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion, Motor s... ORPHA:313892
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix mor... ORPHA:2916
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Hyperactivity, Scoliosis, Short stature, Macrotia, Motor stereotypy, Aggressive b... ORPHA:391307
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Xq28 (MECP2) duplication
Death in childhood, Gait ataxia, Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
48,Xxyy Syndrome
Chronic otitis media, Scoliosis, Tremor, Ataxia, Motor stereotypy, Radioulnar synostosis, Attenti... ORPHA:10
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Macrotia, Hypsarrhythmia, Motor stereotypy OMIM:619877
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Prominent ear helix, Motor stereotypy, Large earlobe, Multifocal epileptiform dis... ORPHA:411986
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Holoprosencephaly,... ORPHA:990
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Short stature, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Low-set e... ORPHA:85284
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Inappropriate laughter, Dystonia, Ataxia, Motor stereotypy, Bruxism, Aggressive behavior OMIM:619150
Ritscher-Schinzel Syndrome 4
Chorea, Scoliosis, Athetosis, Limited knee extension, Impulsivity, Short stature, Macrotia, Ataxi... OMIM:619435
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Intrauterine growth retardation, Self-injurious behavior, Arthrogryposis multiplex congenita, Mot... OMIM:615282
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hyperactivity, Abnormal pinna morphology, Tremor, Kyphosis, Gait ataxia, Short s... OMIM:300354
Baker-Gordon Syndrome
Scoliosis, Dystonia, Ataxia, Motor stereotypy, Joint hypermobility, Self-injurious behavior, Chor... OMIM:618218
Intellectual Developmental Disorder, X-Linked 30
Agitation, Hyperactivity, Hydrocephalus, Short stature, Macrotia, Restlessness, Aggressive behavior OMIM:300558
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Scoliosis, Low-set ears, Compulsive behaviors, Accelerated skeletal maturation, Po... OMIM:618430
Foxg1 Syndrome
Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Stereotypical hand wringing, Shor... ORPHA:561854
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Low-set ears, Short stature, Thoracolumbar scoliosis, Flexion co... OMIM:616549
Intellectual Developmental Disorder With Autism And Speech Delay
Joint hypermobility, Motor stereotypy OMIM:606053
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Genu recurvatum, Elbow flexion contracture, Low-set ears, Exaggerated startle resp... OMIM:617301
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Hearing... ORPHA:90650
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Scoliosis, Hearing impairment, Joint hypermobility, Aggressive behavior ORPHA:457260
Cri-Du-Chat Syndrome
Optic atrophy, Hyperactivity, Stenosis of the external auditory canal, Abnormal pinna morphology,... OMIM:123450
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Low-set ears, Camptodactyly, Short stature, Growth delay, Intrau... OMIM:617333
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Tracheobro... ORPHA:500159
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Gait ataxia, Dystonia, Motor stereotypy, Prominent antihelix OMIM:617807
Alazami Syndrome
Postnatal growth retardation, Scoliosis, Low-set ears, Stereotypical hand wringing, Motor stereot... ORPHA:319671
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Motor stereotypy OMIM:617820
Snijders Blok-Campeau Syndrome
Scoliosis, Low-set ears, Motor stereotypy, Umbilical hernia, Attention deficit hyperactivity diso... OMIM:618205
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol... OMIM:118100
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Short stature, Macrotia, Motor stereotypy, Self-mutilation ORPHA:457240
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Tremor, Compulsive behaviors, Kyphosis, Macrotia, Dysphagia, Motor stereotypy, Pain in... OMIM:617061
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Kniest Dysplasia
Disproportionate short stature, Fused cervical vertebrae, Platyspondyly, Delayed epiphyseal ossif... ORPHA:485
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Truncal ataxia, Low-set ears, Recurrent hand flapping, Short stature, Anterior conca... OMIM:617101
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Scoliosis, Hearing impairment, Short stature, Motor ste... OMIM:610883
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Hearing impairment, Intrauterine growth retardation, Aggressive beh... ORPHA:369939
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Chorea, Macrotia, Dystonia, Motor stereotypy, Self-injurious behavior, Bruxism OMIM:618004
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Tremor, Focal dystonia, Dysphagia, Somatic sensory dysfunction ORPHA:240103
Rauch-Steindl Syndrome
Postnatal growth retardation, Sacral dimple, Hyperactivity, Attached earlobe, Miscarriage, Promin... OMIM:619695
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Cervical C2/C3 vertebral fusion, Hyperactivity, Sensorineural hearing... OMIM:617796
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Low-set ears, Kyphosis, Short stature, Short neck ORPHA:2522
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th... OMIM:610706
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Oromandibular dystonia, Aggressive behavior, Metopic synostosis, Microtia, Tremor... OMIM:620494
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Growth delay, Motor stereotypy, Joint hypermobi... ORPHA:3306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Agitation, Hyperactivity, Low-set ears, Camptodactyly, Hearing impairment, Macrotia, Umbilical he... ORPHA:369891
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with frontal epileptiform discharg... ORPHA:363558
Lopes-Maciel-Rodan Syndrome
Agitation, Scoliosis, Tremor, Kyphosis, Dystonia, Dysphagia, Motor stereotypy, Ankle clonus, Bruxism OMIM:617435
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Hyperactivity, Scoliosis, Anteverted ears, Impulsivity, Kyphosi... OMIM:610443
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Chorea, Exaggerated startle response, Short stature, Macrotia, Joint cont... OMIM:617864
Huntington Disease-Like 1
Jerky head movements, EEG abnormality, Abnormal head movements, Restlessness ORPHA:157941
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Short stature, Skin... OMIM:600430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
13Q12.3 Microdeletion Syndrome
Chronic otitis media, Kyphoscoliosis, Hyperactivity, Impaired pain sensation, Camptodactyly, Hear... ORPHA:412035
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Incomplete partition of the cochlea type II, Sensorineural hearing impairmen... OMIM:617660
Duane Retraction Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Ab... ORPHA:233
Tick-Borne Encephalitis
Anorexia, Limb pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, Abnormal cranial ner... ORPHA:297
N-Acetylaspartate Deficiency
Short stature, Truncal ataxia, Self-mutilation, Motor stereotypy OMIM:614063
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Joint hypermobility, Hyperactivity, Scoliosis, ... ORPHA:449291
Verheij Syndrome
Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Short stature, Short neck, Growth delay, Verteb... OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Achilles tendon contracture, Dysphagia, Elbow c... OMIM:606612
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Short stature, Vertebral fusion, Overfriendli... ORPHA:96169
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Scoliosis, Frequent temper tantrums, Impulsivity, Myelomeningocele, Short stature,... OMIM:620141
22Q11.2 Duplication Syndrome
Scoliosis, Compulsive behaviors, Hearing impairment, Growth delay, Motor stereotypy, Attention de... ORPHA:1727
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Ataxia, Ankle clonus OMIM:618598
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Fused cervical vertebrae, Hyperactivity, Scoliosis, Thor... ORPHA:530983
Radio-Tartaglia Syndrome
Scoliosis, Tremor, Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairment, ... OMIM:619312
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Low-set ears, Gait ataxia, Motor stereotypy, Umbilical hernia, Overfrien... OMIM:616579
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Multiple carpal ossification centers, Spina bifida oc... OMIM:150250
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Scoliosis, Kyphosis, Prominent metopic ridge, Growth delay, Motor ... ORPHA:261144
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Sensorineural hearing impairment, Scoliosis, Conductive hearing im... ORPHA:261197
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Intellectual Disability, Birk-Barel Type
Sacral dimple, Limited elbow flexion/extension, Foot joint contracture, Hyperactivity, Congenital... ORPHA:166108
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Attached earlobe, Microtia, Impulsivity, Dystonia, Ataxia, Umbilical hernia, Aggre... OMIM:616977
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 5th finger, Impulsivity, Joint contracture of the 4th finger, Motor ster... OMIM:618914
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Mixed hearing impairment, Sensorineural hearing im... OMIM:214800
Isotretinoin-Like Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Hydrocephalus, Microtia, Bilat... ORPHA:2306
Rett Syndrome, Congenital Variant
Tongue thrusting, Chorea, Scoliosis, Athetosis, Kyphosis, Dystonia, Motor stereotypy, Protruding ... OMIM:613454
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Joint hypermobility, Uplifted earlobe, Impulsivity OMIM:300143
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Prelingual sensorineural hearing impairment, Small placenta, Hypera... ORPHA:73272
9P13 Microdeletion Syndrome
Hand tremor, Recurrent otitis media, Scoliosis, Low-set ears, Attention deficit hyperactivity dis... ORPHA:324313
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short stature, Moderate hearing impairment, Recurrent otitis media, Cervical C2/C3 vertebral fusion ORPHA:370010
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Kyphoscoliosis, Normal pressure hydrocephalus, Postnatal growth retardation, Genu valgum, Cubitus... ORPHA:300570
Chromosome Xq13 Duplication Syndrome
Limited elbow extension, Recurrent otitis media, Hyperactivity, Posteriorly rotated ears, Attenti... OMIM:301069
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Hyperactivity, Scoliosis, Hearing impairment, Joint stiffness, Ovoid thoracolumba... OMIM:252900
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ataxia, Hearing impairment, Opisthot... OMIM:619580
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Scoliosis, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor ... OMIM:613174
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Scoliosis, Joint contracture, Motor stereotypy OMIM:617393
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Low-set ears, Short stature,... OMIM:619227
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Postnatal growth retardation, Recurrent otitis media, Sacral dimple,... OMIM:213980
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Increased skull ossification, Motor stereotypy OMIM:619690
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears, Dysphagi... OMIM:617802
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Hip subluxation, Hyperactivity, Microtia, Low-set ears, Osteoporosis, Growth dela... ORPHA:447980
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hydrocephalus, Hyperactivity, Exaggerated startle response, Macrotia OMIM:617281
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Low-set ears, Kyphosis, Osteoporosis, Accelerated ske... OMIM:617190
Severe Intellectual Disability And Progressive Spastic Paraplegia
Genu recurvatum, Short stature, Dystonia, Motor stereotypy, Acetabular dysplasia, Generalized joi... ORPHA:280763
Blepharophimosis-Impaired Intellectual Development Syndrome
Scoliosis, Low-set ears, Delayed skeletal maturation, Posteriorly rotated ears, Flexion contractu... OMIM:619293
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Conductive hearing impairm... OMIM:184460
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Acetabular dysplasia, Platyspondyly, Low-set ears, Exaggerate... ORPHA:79255
Smith-Magenis Syndrome
Chronic otitis media, Delayed puberty, Abnormal form of the vertebral bodies, Impaired pain sensa... ORPHA:819
White-Sutton Syndrome
Joint hypermobility, Hyperactivity, Sensorineural hearing impairment, Optic nerve hypoplasia, Hyp... OMIM:616364
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Sensorineural hearing impairment, Scoliosis, Ectopic ossif... OMIM:135100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Chorea, Low-set ears, Growth delay, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Repetitive com... OMIM:300260
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Sensorineural hearing impairment, Scoliosis, Kyphosis, Short stature, Ataxia, Motor s... ORPHA:2479
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Encephalocele, Increased bone mineral density, Hydrocephalus, Abnormal pinna m... ORPHA:90652
Developmental And Epileptic Encephalopathy 6B
Chorea, Scoliosis, Dystonia, Ataxia, Motor stereotypy, Choreoathetosis OMIM:619317
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy, Abnormal speech di... ORPHA:397612
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Scoliosis, Fractures of the long bones, Congenital hip dislocation, Growth delay, ... ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Scoliosis, Hyperactivity, Aggressive behavior OMIM:300958
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Short stature, Dystonia, Motor stereotypy, A... OMIM:300352
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy OMIM:616351
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Paroxysmal dystonia, Dystonia, Ataxia, Generalized dystonia, Choreoathetosis OMIM:245348
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Collectionism, EEG with continuous slow activity, R... ORPHA:275864
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Adenylosuccinase Deficiency
Hyperactivity, Low-set ears, Gait ataxia, Prominent metopic ridge, Growth delay, Inappropriate la... OMIM:103050
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment, Limb joint contracture, Intrauterine gr... OMIM:620327
Kbg Syndrome
Thoracic kyphosis, Attention deficit hyperactivity disorder, Macrotia, Delayed skeletal maturatio... OMIM:148050
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Mixed hearing impairment, Tarsal synostosis, Sensorineural hearing impai... OMIM:272460
Huntington Disease-Like 3
Chorea, Dystonia, Flexion contracture, Progressive gait ataxia, Abnormal head movements ORPHA:157946
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Optic nerve hypoplasia, Short stature, Conductive hearing impairment, I... OMIM:609053
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hyperextensib... ORPHA:521426
3P25.3 Microdeletion Syndrome
Sacral dimple, Knee flexion contracture, Sensorineural hearing impairment, Scoliosis, Ataxia, Mot... ORPHA:435638
19P13.12 Microdeletion Syndrome
Craniosynostosis, Hyperactivity, Sensorineural hearing impairment, Abnormal pinna morphology, Sco... ORPHA:254346
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Short stature, Macrotia, Joint contracture, Ataxia, Motor stereotypy, Atten... OMIM:615656
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Scoliosis, Spastic ataxia, Motor stereotypy, Attention deficit hyperactivity di... OMIM:618906
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Kyphosis, Posteriorly rotated ears, Dy... OMIM:617527
2Q37 Microdeletion Syndrome
Tracheomalacia, Compulsive behaviors, Short stature, Conductive hearing impairment, Short neck, M... ORPHA:1001
Atelosteogenesis, Type I
Stillbirth, Fused cervical vertebrae, Thoracic platyspondyly, Encephalocele, Disproportionate sho... OMIM:108720
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Hyperactivity, Hearing impairment, Joint stiffness, Ovoid thoracolumbar vertebrae... OMIM:252920
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Umbilical hernia, Hip dislocation, Axillary pterygium, Pterygiu... OMIM:265000
Ring Chromosome 21 Syndrome
Scoliosis, Short stature, Holoprosencephaly, Thoracic hemivertebrae, Fused thoracic vertebrae ORPHA:1445
X-Linked Intellectual Disability, Cabezas Type
Cubitus valgus, Abnormal earlobe morphology, Hyperactivity, Scoliosis, Tremor, Kyphosis, Short st... ORPHA:85293
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Joint hypermobility, Motor stereotypy OMIM:620065
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment, Joint contracture, Death in infancy OMIM:300406
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Thickened helices, Darwin tubercle of helix, Six lumbar vertebrae OMIM:619122
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Hydrocephalus, Scoliosis, Hemivertebr... OMIM:613686
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Hyperactivity, Hearing impairment, J... OMIM:252930
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Den Hoed-De Boer-Voisin Syndrome
Agitation, Scoliosis, Tremor, Death in adolescence, Stereotypical hand wringing, Posteriorly rota... OMIM:619229
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing... OMIM:300912
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Postnatal growth retardation, Sensorineural hearing impairment, Low-set ears, Thoraco... OMIM:212066
Mucopolysaccharidosis Type 2
Hyperactivity, Sensorineural hearing impairment, Impulsivity, Abnormal epiphyseal ossification, U... ORPHA:580
3Q29 Microdeletion Syndrome
Low-set ears, Six lumbar vertebrae, Macrotia, Attention deficit hyperactivity disorder, Joint hyp... ORPHA:65286
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Hyperactivity, Sensorineural hearing impairment, Short ... OMIM:608747
Postaxial Acrofacial Dysostosis
Postnatal growth retardation, Low-set ears, Congenital hip dislocation, Growth delay, Conductive ... OMIM:263750
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Dystonia, Motor stereotyp... OMIM:618917
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Aganglionic megacolon, Neural tube defect, Abnormal helix morphology... ORPHA:798
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Macrotia, Inappropriate laughter, Motor stereotypy, Short neck, Prominent antihelix OMIM:615802
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Hyperactivity, Abnormal optic disc morphology,... ORPHA:96121
Stankiewicz-Isidor Syndrome
Sacral dimple, Hyperactivity, Low-set ears, Abnormal optic disc morphology, Hearing impairment OMIM:617516
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Keratoconus Posticus Circumscriptus
Growth delay, Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation... OMIM:244600
Seckel Syndrome 1
Postnatal growth retardation, Hyperactivity, Dislocated radial head, Abnormal pinna morphology, S... OMIM:210600
16P11.2P12.2 Microdeletion Syndrome
Chronic otitis media, Hyperactivity, Impaired pain sensation, Abnormal pinna morphology, Low-set ... ORPHA:261211
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia, Motor stereotypy, Self-mutilation OMIM:300486
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Hearing impairment,... ORPHA:1724
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Communicating hydrocephalus, Macrotia, Posteriorl... ORPHA:1780
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Dystonia, Disinhibition, Restlessness, Motor stereotypy, Aggressive behavior OMIM:600795
Tay-Sachs Disease
Optic atrophy, Limited elbow extension, Tremor, Limited knee extension, Exaggerated startle respo... ORPHA:845
White-Sutton Syndrome
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Short statu... ORPHA:468678
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Severe short stature, Disproportionate short-trunk... OMIM:122600
Mucopolysaccharidosis, Type Iiid
Agitation, Recurrent otitis media, Hyperactivity, Elbow flexion contracture, Low-set ears, Hearin... OMIM:252940
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormal pinna morphology, Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Scoliosis, Low-set ears, Congenital hip dislocation, Contracture of the... ORPHA:457279
Van Esch-O'Driscoll Syndrome
Sacral dimple, Spina bifida occulta, Microtia, Scoliosis, Impulsivity, Attention deficit hyperact... OMIM:301030
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Low-set ears, Hearing impairment, Short stature, ... OMIM:617159
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Sacral dimple, Rhizomelia, Abnormality of the elbow, Hyperactivity,... ORPHA:319182
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Postnatal growth retardation, Sensorineural hearing impairment, Microtia, Scolios... OMIM:301040
Treacher-Collins Syndrome
Encephalocele, Abnormality of the vertebral column, Abnormality of bone mineral density, Microtia... ORPHA:861
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Abnormal form of th... ORPHA:581
Legius Syndrome
Hyperactivity, Scoliosis, Hearing impairment, Short stature, Dystonia, Attention deficit hyperact... ORPHA:137605
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Scoliosis, Kyphosis, Exaggerated startle response, Flexion contracture, Ankle clon... OMIM:609541
21Q22.11Q22.12 Microdeletion Syndrome
Postnatal growth retardation, Recurrent otitis media, Sacral dimple, Tongue thrusting, Hyperactiv... ORPHA:261323
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Aqueductal stenosis, Hypoplastic coccygeal vertebrae, Hyperactivity, Sensorineural... OMIM:619512
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Scoliosis, Pain insensitivity, Motor stereotypy, Attention deficit hy... OMIM:618825
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... OMIM:619103
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Fused cervical ver... ORPHA:1826
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint hypermobility, Scoliosis, Hyperlordosis, Recurrent hand flapping, Compulsive behaviors, Sho... OMIM:300986
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ear, Intrauterine ... OMIM:615574
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Joint hypermobility, Head-banging, Sensorineural hearing impairment, Hydr... OMIM:619575
Phelan-Mcdermid Syndrome
Sacral dimple, Tongue thrusting, Impaired pain sensation, Hearing impairment, Macrotia, Motor ste... OMIM:606232
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Low-set, posteriorly rotated ears, Craniosynostosis, Knee flexion cont... ORPHA:468631
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Metopic synostosis, Scoliosi... OMIM:615485
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Abnormal ear morphology, He... ORPHA:3109
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Oculogyric crisis, Short stature, Growth delay, Dystonia, Motor stereo... ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Microphthalmia, Syndromic 3
Postnatal growth retardation, Butterfly vertebrae, Sensorineural hearing impairment, Optic nerve ... OMIM:206900
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Generalized joint hypermobility, Shoulder subluxation, Fused cervical vertebrae, Optic nerve hypo... ORPHA:508498
Norrie Disease
Optic atrophy, Delayed puberty, Sensorineural hearing impairment, Abnormal helix morphology, Abno... ORPHA:649
Myhre Syndrome
Platyspondyly, Enlarged vertebral pedicles, Microtia, Low-set ears, Limitation of joint mobility,... OMIM:139210
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Scoliosis, Limb dystonia, Motor stereotypy, Self-injurious beha... ORPHA:457351
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Low-set ears, Exaggerated startle response, Gait ataxia, Ataxia OMIM:620451
Kleefstra Syndrome 1
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Motor stereotypy, Aggressive... OMIM:610253
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f... ORPHA:168491
Galloway-Mowat Syndrome 6
Short stature, Delayed skeletal maturation, Growth delay, Motor stereotypy, Intrauterine growth r... OMIM:618347
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Hydrocephalu... OMIM:194190
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Distal sensory impairment, Widening of cervical spinal canal,... OMIM:606842
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Jerky head movements, Punding, EEG with spike-wave comp... ORPHA:64280
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Dislocated radial head, Microtia, Delayed skeletal maturation, Umbilical hern... OMIM:268310
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Short stature, Growth delay, Ataxia, Motor stereotypy, Self-injurious ... ORPHA:228402
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Jerky head movements, Scoliosis, Low-set ears, Hearing impairment, Delayed skeletal m... ORPHA:369837
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Scoliosis, Impaired vibration sensation in the lower limbs, Exaggerated startle re... ORPHA:320406
Pitt-Hopkins Syndrome
Sacral dimple, Scoliosis, Gait ataxia, Short neck, Motor stereotypy, Self-injurious behavior, Thi... OMIM:610954
Kleefstra Syndrome
Chronic otitis media, Tracheomalacia, Scoliosis, Limitation of joint mobility, Hearing impairment... ORPHA:261494
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Transketolase Deficiency
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:488618
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Microtia, Hearing impairment... ORPHA:90024
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Aganglionic megacolon, Sensorineural hearing impairment, Vertebral ... ORPHA:959
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short stature, Thoracic hemivertebrae, Abnormal sacrum morph... ORPHA:1436
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Sc... ORPHA:3320
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Hamstring contractures, Hearing impairment, Ataxia, Dysphagia, Ankle clonus, Myelo... ORPHA:139396
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Scoliosis, Motor stereotypy OMIM:620502
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Scoliosis, Facial diplegia, Growth delay, Motor stereotypy, Attention deficit hyp... OMIM:619121
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Hyperactivity, Impulsivity, Kyphosis, Head titubation, Ataxia, Intrauterine grow... OMIM:619475
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Exa... ORPHA:309246
Monosomy 9Q22.3
Abnormality of the vertebral column, Hyperactivity, Metopic synostosis, Hydrocephalus, Low-set ea... ORPHA:77301
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea... ORPHA:247815
Faciodigitogenital Syndrome, Autosomal Recessive
Microtia, Camptodactyly, Proportionate short stature, Hearing impairment, Posteriorly rotated ear... OMIM:227330
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida OMIM:193500
Autism, Susceptibility To, 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608049
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Scoliosis, Kyphosis, Attention deficit hyperactivity disorder, Flexion... ORPHA:464311
47,Xyy Syndrome
Hyperactivity, Hydrocephalus, Low-set ears, Impulsivity, Attention deficit hyperactivity disorder ORPHA:8
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short stature, Thoracic hemivertebrae OMIM:309620
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Scoliosis, Recurrent hand flapping, Motor stereotypy, Attention deficit hy... OMIM:617600
Kinsship Syndrome
Osteopenia, Sacral dimple, Dislocated radial head, Scoliosis, Low-set ears, Death in infancy, Sho... OMIM:619297
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Growth delay, Ataxia, Motor stereotypy, Joint hypermobility, Hip dislocation OMIM:619428
Aicardi Syndrome
Optic atrophy, Butterfly vertebrae, Delayed puberty, Scoliosis, Block vertebrae, Optic disc colob... ORPHA:50
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Tracheomalacia, Hyperactivity, Scoliosis, Hyper... OMIM:234100
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Scoliosis, Kyphosis, Abnormality of the cervical spine, Short stature, Macrotia, M... ORPHA:464306
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Intention tremor, Dystonia, Ataxia, Motor stereotypy, Motor tics, Attenti... OMIM:619725
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Duane-Radial Ray Syndrome
Aganglionic megacolon, Fused cervical vertebrae, Spina bifida occulta, Sensorineural hearing impa... OMIM:607323
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Joubert Syndrome 1
Hyperactivity, Low-set ears, Occipital myelomeningocele, Ataxia, Optic disc coloboma, Self-mutila... OMIM:213300
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Hypsarrhythmia, Low-set ears, Dysphagia, Motor stereotypy, Protrudin... ORPHA:447997
Rett Syndrome
Agitation, Scoliosis, Abnormal autonomic nervous system physiology, Stereotypical hand wringing, ... ORPHA:778
Floating-Harbor Syndrome
Kyphoscoliosis, Abnormal temper tantrums, Dislocated radial head, Low-set ears, Cochlear malforma... ORPHA:2044
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Scoliosis, Low-set ears, Hyperextensibility at elbow, Gait ataxia, Attention defic... OMIM:614756
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Sandifer Syndrome
Abnormal head movements, Torticollis, Decreased cervical spine mobility ORPHA:71272
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Low-set ears, Short stature, Growth delay, Posteriorly rotated ears, Attention def... OMIM:614294
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Joint hypermobility, Optic nerve hypoplasia, Polyphagia, Fixated inter... OMIM:620330
Distal Duplication 17Q
Genu valgum, Rhizomelia, Low-set, posteriorly rotated ears, Hyperactivity, Scoliosis, Bilateral s... ORPHA:3379
Chops Syndrome
Optic atrophy, Cervical C2/C3 vertebral fusion, Tracheomalacia, Hearing impairment, Short stature... OMIM:616368
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Simpson-Golabi-Behmel Syndrome
Low-set, posteriorly rotated ears, Scoliosis, Abnormal helix morphology, Vertebral segmentation d... ORPHA:373
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity, Aggressive behavior ORPHA:401973
Apert Syndrome
Chronic otitis media, Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal oss... OMIM:101200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Spinal rigidity, Encephalocele, Hydrocephalus, Scoliosis, Exaggerated startle resp... OMIM:253800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Recurrent otitis media, Genu valgum, Hyperlordosis, Posteriorly rotated ... OMIM:301066
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Helsmoortel-Van Der Aa Syndrome