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
no spontaneous movement Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal tail morphology Fgf3tm4b(EUCOMM)Hmgu HOM E12.5 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
preweaning lethality, complete penetrance Fgf3tm4b(EUCOMM)Hmgu HOM   Early adult 0.00
unresponsive to tactile stimuli Fgf3tm4b(EUCOMM)Hmgu HET E18.5 0.00
abnormal ulna morphology Fgf3tm4b(EUCOMM)Hmgu HET   Early adult 9.95×10-05
unresponsive to tactile stimuli Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal tail morphology Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal radius morphology Fgf3tm4b(EUCOMM)Hmgu HET   Early adult 9.95×10-05

Download data as:  TSV  XLS

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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 0.71% (4 of 564)
aorta 0.18% (1 of 557)
bone 0.0%
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cecum 5.98% (22 of 368)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.36% (2 of 554)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 566)
vas deferens 4.79% (18 of 376)
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.

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B 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
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited pronation/supination of forearm, Radioulnar synostosis OMIM:179300
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... ORPHA:3104
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology... ORPHA:3266
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... ORPHA:1350
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... ORPHA:1837
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... ORPHA:971
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... OMIM:127300
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... OMIM:249700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Prenatal Bowing
Bowing of the long bones OMIM:264050
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Distal Monosomy 10Q
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... ORPHA:96148
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Limited pronation/supination of forearm, Madelung deformity DECIPHER:58
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231169
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Short stature, Osteopenia, Delayed skeletal matu... OMIM:608747
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Vertebral segmentation defect, H... ORPHA:87
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Hyperactivity, Stereotypical body rocki... ORPHA:100973
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Fragile X Syndrome
Recurrent hand flapping, Hyperactivity, Scoliosis, Joint laxity, Abnormal head movements, Macrotia OMIM:300624
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion, Choreoathetosis, Macrotia OMIM:221950
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Tetrasomy X
Brachydactyly, Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis ORPHA:9
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Spasticity OMIM:300983
Gorham-Stout Disease
Torticollis, Bone pain, Osteomyelitis, Abnormal bone ossification, Osteopenia, Osteolysis involvi... ORPHA:73
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Kyphosis, Hypertonia, Hyperactivity, Joint contracture of the hand, Short statu... ORPHA:352490
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Torticollis, Hypoplasia of... OMIM:609136
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Osteopenia, Scoliosis, Gait ataxia, Low-set ears, Pos... OMIM:619717
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Hemiplegia/hemiparesis, Abnormal vertebral segmentation and fusi... ORPHA:2345
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Neonatal death, Optic atrophy, Spastic tetraplegia, Hearing impair... OMIM:618237
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal verte... OMIM:618709
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Kyphoscoliosis, Hyperactivity, Short stature, Macrotia, Anteverted ears OMIM:615541
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Gait ataxia, Cochl... ORPHA:95433
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Tho... OMIM:619092
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement OMIM:276821
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Split hand, Short humerus, Micromelia, Postaxial hand polydactyly... ORPHA:2491
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... OMIM:125250
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Low-set ears OMIM:618718
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, EEG abnormality, Jerky head mo... ORPHA:157941
Acrodysostosis
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... ORPHA:950
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Optic atrophy, Multiple suture craniosynostosis, Na... ORPHA:207
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Absent radius, Short humerus, Shoulder... OMIM:171480
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressi... ORPHA:382
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Wildervanck Syndrome
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment, Pseudopapilledema OMIM:314600
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... ORPHA:2741
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Short stature, Hyperkinetic movements, Optic a... OMIM:617302
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... ORPHA:2878
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Hypertonia, Hyperactivity, Short stature, Cerebral palsy, Scoliosis, Arthrogryposis mul... OMIM:615834
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single transverse palmar creas... ORPHA:1972
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... OMIM:602418
Ogden Syndrome
Torticollis, Hypertonia, Delayed cranial suture closure, Scoliosis, Abnormal head movements, Macr... ORPHA:276432
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology ORPHA:177910
4Q21 Microdeletion Syndrome
Motor stereotypy, Low-set ears, Kyphosis, Short neck, Scoliosis, Tremor, Growth delay, Hearing im... ORPHA:238750
Noonan Syndrome
Sensorineural hearing impairment, Aplasia of the semicircular canal, Short stature, Scoliosis, Lo... ORPHA:648
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Hyperactivity, Short stature, Birth length l... OMIM:614104
Charge Syndrome
Overfolded helix, Hemivertebrae, Optic atrophy, Intrauterine growth retardation, Abnormality of t... ORPHA:138
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Hydrocephalus, Hyperactivity, Optic atrophy, Tremor, Elbow flexion contracture,... OMIM:619470
Kbg Syndrome
Short stature, Vertebral fusion, Short neck, Bilateral conductive hearing impairment, Scoliosis, ... ORPHA:2332
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Low-set ears, Scoliosis, Recurrent hand flapping OMIM:620021
Aarskog-Scott Syndrome
Genu recurvatum, Short stature, Abnormal vertebral segmentation and fusion, Camptodactyly of fing... ORPHA:915
Dysspondyloenchondromatosis
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... ORPHA:85198
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... ORPHA:2249
Christianson Syndrome
Motor stereotypy, Truncal ataxia, Death in early adulthood, Gait ataxia, Arthrogryposis multiplex... ORPHA:85278
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Abcd Syndrome
Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impa... OMIM:600501
Oslam Syndrome
Radial deviation of finger, Clinodactyly, Radioulnar synostosis OMIM:165660
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Cervi... OMIM:214300
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Optic atrophy, Hypsarrhythmia OMIM:617830
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia OMIM:617695
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Short... OMIM:178110
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Hyperactivity, Short stature,... OMIM:618342
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, S... ORPHA:794
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Scoliosis, Tracheobronchomalac... OMIM:617751
Lateral Meningocele Syndrome
Conductive hearing impairment, Abnormality of the middle ear ossicles, Kyphosis, Sclerosis of sku... OMIM:130720
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Tongue fasciculations, Abnormal cranial ... OMIM:601596
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... OMIM:194350
Smith-Magenis Syndrome
Motor stereotypy, Hyperactivity, Short stature, Scoliosis, Impaired pain sensation, Morphological... OMIM:182290
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abnormal metacarpal mo... ORPHA:1307
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Short stature OMIM:617862
Snijders Blok-Campeau Syndrome
Motor stereotypy, Low-set ears, Scoliosis, Speech apraxia OMIM:618205
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Growth... ORPHA:1435
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Short neck, Pseudopapilledema, Fused cervical verteb... ORPHA:3456
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Progressive cerebellar ataxia, Cranial nerve compression, Abnorm... ORPHA:268882
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Short stature OMIM:300271
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypsarrhythmia, Multifocal epile... ORPHA:411986
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:312150
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Congenital sensorineural hearing impairment, Carpal synostosis, Jo... OMIM:157800
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Hypoplastic vertebral bodies, Short stature, Hemivertebr... ORPHA:2916
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Reduced bone mineral density, Short stature, Osteomalacia, Enla... ORPHA:18
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Scoliosis, Spasticity, Flexion contracture OMIM:617393
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Spasticity... ORPHA:99027
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Kyphoscoliosis, Short stature, Wormian bones, Lo... OMIM:617808
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:253290
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Platyspondyly, Biconcave vertebral bodies, Disproportionate short-trunk short stature... ORPHA:93315
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow i... ORPHA:990
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Dysmetria, Babinski sign, Scoliosis, Joint laxity, Spasticity, Clonus, Low-set ear... OMIM:617773
Bresek Syndrome
Low-set ears, Protruding ear, Hydrocephalus, Hemivertebrae, Optic nerve hypoplasia, Scoliosis, Ne... ORPHA:85284
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Scoliosis, Hyperkinetic movements, Choreoathetosis, Joint laxity, Invol... OMIM:618218
Ck Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Hyperactivity, Joint hypermobility, Posteriorly rotated ears ORPHA:251383
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Severe short stature, Short stature, He... OMIM:277300
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Macrotia, Anteverted ears, Abnormalit... ORPHA:544254
Ck Syndrome
Kyphosis, Hyperactivity, Scoliosis, Hyperlordosis, Joint hypermobility, Posteriorly rotated ears OMIM:300831
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Single transverse palmar crease, Mesomelic arm shortening, Fibular hypo... OMIM:113470
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Short stature DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Kyphoscoliosis, Hyperactivity, Short stature, Scoliosis, Macrotia ORPHA:391307
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Aplasia/Hypoplasia of the radius, Madelung deformity, Ulnar bowing ORPHA:1765
Xq28 (MECP2) duplication
Progressive spasticity, Motor stereotypy, Gait ataxia, Macrotia DECIPHER:45
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity, Dystonia OMIM:617807
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... OMIM:614900
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Scoliosis, Chronic otitis media, Radioulnar synostosis, Tremor, Attenti... ORPHA:10
Mend Syndrome
Kyphosis, Hydrocephalus, Hypertonia, Hyperactivity, Short stature, Low-set ears OMIM:300960
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Posteriorly rotated ears, Recurrent hand flapping OMIM:615032
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Abnormal pinna morphology, Hyperactivity, Short stature, Tremor, Gait ataxia, Joint lax... OMIM:300354
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Short 5th finger, Hypoplasia of the ulna, Single transverse palmar crea... OMIM:227270
Acromesomelic Dysplasia 4
Metaphyseal irregularity, Broad phalanx, Short toe, Radial bowing, Short metatarsal, Short metaca... OMIM:619636
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Spasticity, EEG abnormality OMIM:617820
Tick-Borne Encephalitis
Abnormality of the vestibular nerve, Back pain, Abnormal autonomic nervous system physiology, Fac... ORPHA:297
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia, Arthrogryposis multiplex congenita, Intrauteri... OMIM:615282
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... OMIM:201050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Butterfly vertebrae, Short stature, Spinal dysraphism, Absence ... OMIM:617660
Adult Krabbe Disease
Hemiplegia, Ataxia, Clumsiness, EEG abnormality, Hoffmann sign, Babinski sign, Tetraparesis, Freq... ORPHA:206448
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short stature, Short neck, Thoracolumbar sc... OMIM:616549
Duane Retraction Syndrome
Sensorineural hearing impairment, Blepharospasm, Stenosis of the external auditory canal, Abnorma... ORPHA:233
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Foxg1 Syndrome
Motor stereotypy, Kyphoscoliosis, Short stature, Severe postnatal growth retardation, Myoclonus, ... ORPHA:561854
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Short stature, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Macrotia OMIM:618504
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Optic disc drusen, Eye poking OMIM:204000
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Scoliosis, Joint laxity, Spasticity, Hearing impairment ORPHA:457260
Huntington Disease-Like 3
Flexion contracture, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of ... ORPHA:157946
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptifo... ORPHA:88616
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Abnormal pyramidal sign, Optic atrophy, Hearing impairment, Intrauterine growth re... ORPHA:369939
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination, Short stat... OMIM:309548
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... OMIM:118100
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Hypertonia, Genu recurvatum, Exaggerated startle response, Flexion contracture, ... OMIM:617301
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Clumsiness, Hyperactivity, Short stature, Macrotia OMIM:300558
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Abnormal ... ORPHA:485
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short stature, Short neck, Hyperlordosis, Fused cervical vertebrae, Low-set ears ORPHA:2522
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Hyperactivity, Stenosis of the external ... OMIM:123450
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, ... ORPHA:313892
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Genu... ORPHA:321
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Craniosynostos... ORPHA:261197
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Genu recurvatum, Generalized joint laxity, Short stature, Babinski sign, Spasti... ORPHA:280763
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... ORPHA:363558
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Hand oligodactyly, Radioulnar synostosis, Ap... ORPHA:1788
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Short stature, Macrotia, Scoliosis, Chorea, Athetosis, Joint hypermobil... OMIM:619435
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Hypsarrhythmia ORPHA:500545
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Short stature, Hemivertebrae, Spina bifida occul... OMIM:613686
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Rauch-Steindl Syndrome
Motor stereotypy, Protruding ear, Miscarriage, Hyperactivity, Attached earlobe, Short stature, Pr... OMIM:619695
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Radial ... OMIM:210720
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Torticollis, Kyphoscoliosis, Thoracic scoliosis, Motor stereoty... ORPHA:300570
Acromesomelic Dysplasia 1
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... OMIM:602875
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality OMIM:239500
Coffin-Siris Syndrome 7
Motor stereotypy, Low-set ears, Recurrent otitis media, Hyperactivity, Short stature, Sagittal cr... OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion, Motor stereotypy, Lumbar hyper... OMIM:617796
Potocki-Lupski Syndrome
Motor stereotypy, Hyperactivity, Short stature, Scoliosis, Hearing impairment OMIM:610883
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Short distal phalanx of finger, Flared iliac wing, Carpal... ORPHA:93314
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Underfolded h... OMIM:263540
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Short stature, Optic nerve hypoplasia, Optic atrophy, ... ORPHA:401777
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... OMIM:615924
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Kyphosis, Pain insensitivity, Overfolded helix, Scoliosis, Tremor, Attention de... OMIM:617061
Atypical Rett Syndrome
Kyphosis, Hand apraxia, Pill-rolling tremor, Scoliosis, Stereotypical hand wringing, Tongue thrus... ORPHA:3095
Alazami Syndrome
Motor stereotypy, Scoliosis, Stereotypical hand wringing, Postnatal growth retardation, Low-set ears ORPHA:319671
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Kyphosis, Protruding ear, Motor stereotypy, Prominent metopic ridg... ORPHA:261144
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, Flexion contracture, Oromotor apraxia, Hypoplastic helices, Attention def... ORPHA:391372
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Fractures of the long bones, Congenital hip dislocation, Sco... ORPHA:496641
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Low-set, posteriorly rotated ears, Joint hypermobility, Growth d... ORPHA:3306
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Frequent falls, Facial palsy, Vertebral fusion, Achilles tend... OMIM:606612
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis, Short stature OMIM:617270
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Aganglionic megacolon, Short stature, Underfolded superior helices,... OMIM:300352
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Radioulnar synostosis, Hammertoe, Abnormal metac... ORPHA:2319
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Severe intrauterine growth retardation, Congenital sensorineura... ORPHA:73272
Intellectual Disability, Birk-Barel Type
Protruding ear, Hyperactivity, Congenital finger flexion contractures, Limited elbow flexion/exte... ORPHA:166108
Isotretinoin-Like Syndrome
Hydrocephalus, Microtia, Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external aud... ORPHA:2306
22Q11.2 Duplication Syndrome
Motor stereotypy, Scoliosis, Attention deficit hyperactivity disorder, Anterior creases of earlob... ORPHA:1727
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Spastic tetraplegia, Head titubation, Vestibular areflexia ORPHA:3240
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Mild postnatal growth retardation, Scoliosis, Optic atro... ORPHA:530983
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic ossification in tendon t... OMIM:135100
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Gait ataxia, Umbilical hernia, Joint hypermobility, Impaired pain sensation, In... OMIM:616579
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Myoclonus, Scoliosis, Hyperkinetic movements, Chorea, Choreoathetosis, ... OMIM:619317
Gm1 Gangliosidosis Type 1
Low-set ears, Hypoplastic vertebral bodies, Exaggerated startle response, Beaking of vertebral bo... ORPHA:79255
Radio-Tartaglia Syndrome
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Scoliosis, ... OMIM:619312
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Ataxia, Hyperactivity, Spastic paraparesis, Short stature, Arthrogryposis-like hand... ORPHA:369891
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Abnormal auditory evok... OMIM:619260
Holzgreve Syndrome
Hand polydactyly, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2167
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Flexion contracture, Scoliosis, Joint laxity, Attention deficit hyperactivity d... OMIM:619293
Rett Syndrome, Congenital Variant
Motor stereotypy, Kyphosis, Protruding ear, Scoliosis, Chorea, Athetosis, Tongue thrusting, Spast... OMIM:613454
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Hyperactivity, Short stature, Chronic otitis media, Camptodactyly, Impaired pain ... ORPHA:412035
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Low-set ears, Scoliosis, Craniosynostosis OMIM:613174
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Abnormality of fibula morphology, Bowing of the long ... ORPHA:3035
Charge Syndrome
Sensorineural hearing impairment, Low-set ears, Aplasia of the semicircular canal, Microtia, Holo... OMIM:214800
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements OMIM:245348
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Kyphosis, Protruding ear, Ataxia, Motor stereotypy, Short statu... ORPHA:2479
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Low-set ears, Bilateral conductive hearing impairment, Interictal epileptiform ... OMIM:617802
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Joint hypermobility, Gener... OMIM:618000
Holt-Oram Syndrome
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... ORPHA:392
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Joint hypermobility, Hyperactivity, Short stature, Overfolded helix,... OMIM:610443
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Protruding ear, Short stature, Overfolded helix, Scolios... ORPHA:96169
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hyperactivity, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria, Umbilic... OMIM:252900
2Q31.1 Microdeletion Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Broad hallux phalanx, ... ORPHA:251014
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... OMIM:184460
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Scoliosis, Join... ORPHA:449291
Ring Chromosome 21 Syndrome
Holoprosencephaly, Fused thoracic vertebrae, Short stature, Scoliosis, Spasticity, Thoracic hemiv... ORPHA:1445
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Hyperactivity, Spasticity, Recurrent otitis media OMIM:615286
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Stereotypical hand wringing, Chorea OMIM:618760
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Joint hypermobility, Craniosynostosis, Intention tremor, Hemivertebr... OMIM:213980
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Scoliosis, Spasticity, Hyperactivity OMIM:300958
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Short stature, Spina bifida occulta, Fused cervical vertebrae, Attention def... OMIM:619227
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Scoliosis, Attention deficit hyperact... ORPHA:435638
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short stature, Moderate hearing impairment, Recurrent otitis media ORPHA:370010
Otopalatodigital Syndrome Type 2
Myelomeningocele, Carpal synostosis, Abnormal pinna morphology, Hydrocephalus, Increased bone min... ORPHA:90652
Moebius Syndrome
Absent hand, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal morphology of ulna, Ap... ORPHA:570
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Joint contracture of the 4th finger, Cupped ear, Cerebral palsy, Jo... OMIM:618914
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Kyphoscoliosis, Growth delay, Hyperactivity, Microtia, Osteoporo... ORPHA:447980
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, Joint stiffness, Short stature, Scoliosis, Abnor... ORPHA:819
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529808
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... ORPHA:247815
Camurati-Engelmann Disease
Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... ORPHA:1328
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Short stature, Microtia, Low-set ears, Posteriorly rotated ears OMIM:618089
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Joint hypermobility OMIM:300143
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Hyperactivity, Microtia, Attached earlobe, Umbilical hernia, Dystonia OMIM:616977
White-Sutton Syndrome
Sensorineural hearing impairment, Intrauterine growth retardation, Motor stereotypy, Hyperactivit... OMIM:616364
Coffin-Siris Syndrome 2
Abnormal pinna morphology, Hyperactivity, Short stature, Hearing impairment, Delayed skeletal mat... OMIM:614607
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder OMIM:613670
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... OMIM:619580
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Myoclonus, Scoliosis, Stereotypical hand wringing, Death in adolescence... OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Rigidity, Chorea, Progressive spasticity, Repetitive compulsive behavio... OMIM:300260
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Hyperactivity, Poor coordination, Scoliosis, Spasticity, Low-set ears, Posteriorly rotate... OMIM:618430
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... ORPHA:206436
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... OMIM:301013
Tay-Sachs Disease
Clumsiness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor fine motor coordina... ORPHA:845
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Hypertonia, Exaggerated startle response, Babinski sign, Abnormal pyramidal sign, Rigid... OMIM:617527
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Hearing impairment OMIM:616351
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Attention deficit hyp... OMIM:619680
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Increased skull ossification, Motor stereotypy OMIM:619690
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Micromelia, Brach... OMIM:617866
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Bowed forearm bones, Absent radius, Absent thumb OMIM:602200
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Motor stereotypy, EEG with generalized slow activity ORPHA:397612
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Short stature, Optic nerve hypoplasia, Short neck, Fused cervical ... OMIM:609053
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis, Stereotypical hand wringing, Growth delay, Impaired pain sensation ORPHA:505652
Kbg Syndrome
Protruding ear, Short stature, Vertebral fusion, Short neck, Vertebral arch anomaly, Thoracic kyp... OMIM:148050
X-Linked Cerebral Adrenoleukodystrophy
Hamstring contractures, Ataxia, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Myelopathy... ORPHA:139396
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Hypoplasia of the ulna, ... OMIM:619135
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Hyperactivity, Short stature, Camptodactyly of finger, Short neck, Scoliosis, Tremor, C... ORPHA:85293
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Death in infancy, Sacral dimple OMIM:618845
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:2760
Chromosome Xq13 Duplication Syndrome
Intrauterine growth retardation, Hyperactivity, Finger joint hypermobility, Limited elbow extensi... OMIM:301069
Adenylosuccinase Deficiency
Hyperactivity, Opisthotonus, Prominent metopic ridge, Myoclonus, Gait ataxia, Spasticity, Growth ... OMIM:103050
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Knee dislocation, Encephalocele, Short neck, Neonatal ... OMIM:108720
Spondylocarpotarsal Synostosis Syndrome
Sensorineural hearing impairment, Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxa... OMIM:272460
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Umbilical hernia, Pterygium, Flexion contracture, Anteri... OMIM:265000
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Kyphosis, Exaggerated startle response, Hyperextensibility of t... ORPHA:521426
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Myelomeningocele, Absent or minimally oss... ORPHA:66637
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Craniosynostosis, Scoliosis, Attention deficit hyperactivity disorder, Joint hy... OMIM:618906
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Hyperactivity, Craniosynostosis, Short stature, Wormian bones, Low-set ears, ... OMIM:601853
Schinzel-Giedion Syndrome
Abnormal helix morphology, Infantile sensorineural hearing impairment, Short neck, Radioulnar syn... ORPHA:798
2Q37 Microdeletion Syndrome
Motor stereotypy, Conductive hearing impairment, Tracheomalacia, Short stature, Short neck, Atten... ORPHA:1001
16P11.2P12.2 Microdeletion Syndrome
Abnormal pinna morphology, Hyperactivity, Short stature, Camptodactyly of finger, Chronic otitis ... ORPHA:261211
Verheij Syndrome
Growth delay, Short stature, Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Darwin tubercle of helix, Thickened helices, Joint hypermobility OMIM:619122
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Limited pronation/supination of forearm, Short middle phalanx of the 4th fin... OMIM:616738
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Growth delay, Supernumerary vertebrae, Cupped ear, Congenital hip ... OMIM:263750
Asparagine Synthetase Deficiency
Exaggerated startle response, Spastic tetraplegia, Macrotia OMIM:615574
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Hyperactivity, Short stature, Low-set, posteriorly rotated ears, Joint laxity OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 22
Growth delay, Abnormal pinna morphology, Short stature, Stereotypical hand wringing, Proportionat... OMIM:612337
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... OMIM:274000
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Gait ataxia, Spasticity, Macrotia OMIM:300486
Frontometaphyseal Dysplasia 1
Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated ... OMIM:305620
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment ORPHA:79155
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Kyphosis, Hyperactivity, Cranios... ORPHA:254346
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Hyperactivity, Abnormality of extrapyramidal motor function, Short neck, Chor... OMIM:615673
Spastic Paraplegia, Optic Atrophy, And Neuropathy