Gene Summary

fibroblast growth factor 3
Int-P,  Int-2,  Fgf-3

IMPC Phenotype Summary

Not Significant
Not tested


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
unresponsive to tactile stimuli Fgf3tm4b(EUCOMM)Hmgu HET E18.5 0.00
unresponsive to tactile stimuli Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
enlarged lymph nodes Fgf3tm4b(EUCOMM)Hmgu HET Early adult 0.00
abnormal radius morphology Fgf3tm4b(EUCOMM)Hmgu HET   Early adult 9.97×10-05
abnormal embryo size Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal tail morphology Fgf3tm4b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal tail morphology Fgf3tm4b(EUCOMM)Hmgu HOM E12.5 0.00
increased spleen weight Fgf3tm4b(EUCOMM)Hmgu HET Early adult 1.18×10-05
abnormal embryo size Fgf3tm4b(EUCOMM)Hmgu HOM E12.5 0.00
preweaning lethality, complete penetrance Fgf3tm4b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal retina morphology Fgf3tm4b(EUCOMM)Hmgu HET   Early adult 8.05×10-05
abnormal ulna morphology Fgf3tm4b(EUCOMM)Hmgu HET   Early adult 9.97×10-05

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
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.


XRay Images Forepaw

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images


Panel B FCS file(s)

6 Images


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.

Disease Similarity of
Matching phenotypes Source
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hearing impairment, Sensorineural hearing impairment, Aplasia ... ORPHA:90024
Otodental Syndrome
Retinal coloboma ORPHA:2791

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

Disease Similarity of
Matching phenotypes Source
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Splenomegaly, Anemia, Abnormality of f... ORPHA:1802
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Vestibular dysfunction, Attention deficit hyperacti... ORPHA:52368
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Distal Monosomy 10Q
Craniosynostosis, Poor fine motor coordination, Postnatal growth retardation, Spina bifida occult... ORPHA:96148
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia OMIM:172500
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Rhizomelia, Retinal degeneration, Coxa vara, Narrow gr... OMIM:602271
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Robin Sequence-Oligodactyly Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... ORPHA:3104
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Ulnar Hemimelia
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Aplasia of the 4th finger,... ORPHA:93320
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... OMIM:618889
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Short stature, Hyperactivity, Intrauterine growth retardation, ... OMIM:608747
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Short stature, Stereotypy, Hyperactivity, Kyphoscoliosis OMIM:615541
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231169
Fraxe Intellectual Disability
Clumsiness, Hyperactivity, Prominent ear helix, Short stature, Recurrent hand flapping, Intrauter... ORPHA:100973
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Jerky head mov... ORPHA:98807
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Cervical C5/C6 ve... ORPHA:87
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Episodic Ataxia Type 4
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Arthrogryposis multiplex congenita, Hyperactivity, Kyphosis, Hypertonia, Joint contrac... ORPHA:352490
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Fragile X Syndrome
Scoliosis, Joint laxity, Macrotia, Hyperactivity, Abnormal head movements OMIM:300624
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, At... OMIM:609136
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Choreoathetosis, Vertebral segmentation defect, Macrotia OMIM:221950
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy OMIM:609425
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Hyperlipoproteinemia, Type Id
Hepatomegaly, Lipemia retinalis, Splenomegaly OMIM:615947
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Thoracic kyphosis, Hypertonia,... OMIM:619092
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... ORPHA:2345
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Syndactyly, Aplastic anemia, Amegakaryo... OMIM:605432
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Head tremor, Difficulty walking, Progressive cerebellar ataxi... ORPHA:95433
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Ataxia, Lower limb spasticity, Abnormal auditory evoked potenti... ORPHA:320401
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... ORPHA:73
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Hypoplasia of the ulna, Bilateral single transverse p... ORPHA:1972
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment, Abnormal epiphysis morphology of... OMIM:619248
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormal... OMIM:617519
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ataxia, Stereotypy, Hydrocephalus, Attention deficit hyperactivity... OMIM:618709
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... ORPHA:1837
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Bra... ORPHA:1278
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... OMIM:171480
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Acrorenal Syndrome
Split hand, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, Abnormality of the... ORPHA:971
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the metaphysis, Hepatomegaly, Splenomegaly ORPHA:417
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic ... OMIM:125250
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... ORPHA:93307
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Exostoses, Multiple, Type Ii
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133701
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Mental Retardation, Autosomal Dominant 33
Scoliosis, Delayed skeletal maturation, Short stature, Hyperactivity OMIM:616311
Exostoses, Multiple, Type I
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Br... ORPHA:157941
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Hearing impairment, Multiple sutur... ORPHA:207
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Short s... OMIM:617302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment, Fused cervical vertebrae, Abnormality of the outer ear OMIM:314600
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Ogden Syndrome
Scoliosis, Lethargy, Macrotia, Hypertonia, Postnatal growth retardation, Low-set ears, Delayed cr... ORPHA:276432
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Low-set ears, Stereotypy, Hyperactivity, Spasticity OMIM:618718
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Kyphosis, Growth delay, Low-set ears, Hearing impairment, Stereotypy, Intraute... ORPHA:238750
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Hyperactivity, Macrotia, Gait disturbance, Abnormality of the ... OMIM:614104
Mental Retardation, Autosomal Recessive 61
Scoliosis, Posteriorly rotated ears, Low-set ears, Babinski sign, Hyperactivity, Spasticity OMIM:617773
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereoty... OMIM:617695
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... ORPHA:2249
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Hip subluxation, Protrusio acetabuli, Flattened femoral head, Coxa vara, Broad rad... ORPHA:99642
Christianson Syndrome
Dystonia, Arthrogryposis multiplex congenita, Truncal ataxia, Gait ataxia, Macrotia, Joint hyperf... ORPHA:85278
Noonan Syndrome
Scoliosis, Thickened helices, Radioulnar synostosis, Joint hyperflexibility, Low-set, posteriorly... ORPHA:648
Kbg Syndrome
Scoliosis, Macrotia, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Bi... ORPHA:2332
Snijders Blok-Campeau Syndrome
Scoliosis, Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Charge Syndrome
Scoliosis, Overfolded helix, Postnatal growth retardation, Hemivertebrae, Delayed puberty, Hypopl... ORPHA:138
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Low-set, posteriorly rotated ea... ORPHA:915
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ata... OMIM:618598
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Stereotypy, Hypsarrhythmia OMIM:617830
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Splenomegaly, Abn... ORPHA:3035
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Conductive hearing impairment, Abnormality of the pinna, Cervical C2/C3 vertebral fusi... OMIM:214300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Short stature, Ataxia OMIM:617862
Smith-Magenis Syndrome
Scoliosis, Hyperactivity, Morphological abnormality of the middle ear, Abnormality of the outer e... OMIM:182290
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Scoliosis, Difficulty walking, Flexion contracture, Stereotypy, Spasticity OMIM:617393
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Abnormality of the middle ear ossicles, Biconcave ... OMIM:130720
Baker-Gordon Syndrome
Scoliosis, Inability to walk, Dystonia, Joint laxity, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Anteverted ears, Macrotia, Gait disturbance, Poor coordination, Ataxia, Abnormality of pa... ORPHA:544254
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Akinesia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, ... OMIM:253290
Saethre-Chotzen Syndrome
Scoliosis, Hyperlordosis, Abnormality of the antihelix, Craniosynostosis, Narrow internal auditor... ORPHA:794
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Growth delay, A... ORPHA:1435
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Fibular hypoplasia, Ulnar bowing, Single tran... OMIM:113470
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Growth delay, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Multifocal epileptiform discharges, Myoclonus, Stereotypy, Prominent ear helix, L... ORPHA:411986
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia ORPHA:1765
Distal Renal Tubular Acidosis
Rickets, Growth delay, Bone pain, Paralysis, Enlarged vestibular aqueduct, Reduced bone mineral d... ORPHA:18
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Facial palsy, Short neck, Fused cervical vertebrae, Congenital se... ORPHA:3456
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Abnormal macular morphology, Sea-blue histiocytosis, Hepatomegaly, Spleno... OMIM:607616
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Ck Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Kyphosis, Posteriorly rotated ears, Hyperactivity OMIM:300831
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Congenital hip dislocation, Branchial cyst, Conductive hearing impairm... OMIM:113650
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Hypoplasia of the ulna, Single transverse... OMIM:227270
Ck Syndrome
Joint hypermobility, Lumbar hyperlordosis, Posteriorly rotated ears, Hyperactivity, Kyphoscoliosis ORPHA:251383
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormality of the antihelix, Elbow dislocation, Abnormal form of the vertebral bodies... ORPHA:2916
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy, Sh... ORPHA:457240
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Scoliosis, Macrotia, Short stature, Stereotypy, Hyperactivity, Kyphoscoliosis ORPHA:391307
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Death in childhood, Stereotypy, Progressive spasticity DECIPHER:45
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... ORPHA:99027
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Low-set ea... OMIM:312150
Coffin-Siris Syndrome 6
Wormian bones, Conductive hearing impairment, Low-set, posteriorly rotated ears, Tics, Stereotypy... OMIM:617808
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Unsteady gait, Stereotypy, O... OMIM:617807
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Narrow internal auditory canal, Holoprosencephaly, Low-set, po... ORPHA:990
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Syndactyly, Anemia ... OMIM:615631
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, Growth delay, Flexion contracture, Osteopenia, Knee flexion contracture, Hyper... OMIM:616809
Kbg Syndrome
Macrotia, Thoracic kyphosis, Vertebral fusion, Short stature, Delayed skeletal maturation, Verteb... OMIM:148050
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Bresek Syndrome
Scoliosis, Growth delay, Aganglionic megacolon, Hemivertebrae, Low-set ears, Hearing impairment, ... ORPHA:85284
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Low-set ears, Posteriorly rotated ears, Hearing impairment, Sho... OMIM:618027
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
48,Xxyy Syndrome
Scoliosis, Tremor, Radioulnar synostosis, Elbow dislocation, Joint hyperflexibility, Chronic otit... ORPHA:10
Mental Retardation, Autosomal Dominant 48
Low-set ears, Sensorineural hearing impairment, Abnormality of the pinna, Stereotypy OMIM:617751
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna OMIM:241600
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Joint laxity, Stereotypy OMIM:606053
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportion... OMIM:277300
Atypical Rett Syndrome
Scoliosis, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Dystonia, Inability to walk, Kyphos... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Joint laxity, Kyphosis, Abnormality of the pinna, Delayed puberty, Short sta... OMIM:300354
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Hepatomegaly, Limb undergrowth, Splenomegaly ORPHA:2204
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Scoliosis, Joint laxity, Hearing impairment, Hyperactivity, Broad-based gait, Spasticity ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy, Macrotia OMIM:618504
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb OMIM:179270
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Arnold-Chiari Malformation Type I
Scoliosis, Adult onset sensorineural hearing impairment, Anteriorly placed odontoid process, Vert... ORPHA:268882
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Sensorineural hearing impairment, Short stature, Hyperactivity OMIM:618342
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Smith-Magenis syndrome
Short stature, Stereotypy, Hyperactivity DECIPHER:8
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Chorioretinal coloboma, Epiphyseal stippling, ... OMIM:619135
Mend Syndrome
Kyphosis, Hypertonia, Low-set ears, Short stature, Hyperactivity, Hydrocephalus OMIM:300960
Tick-Borne Encephalitis
Tremor, Vertigo, Incoordination, Abnormal cranial nerve morphology, Speech apraxia, Hyperkinetic ... ORPHA:297
Immunodeficiency 64
Clubbing of fingers, Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-... OMIM:618534
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Tetrapares... ORPHA:206448
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Elbow dislocation, Hitchhiker thumb, Rhizomelia, Sandal ... OMIM:108721
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Hearing impairment... ORPHA:90650
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Cri-Du-Chat Syndrome
Scoliosis, Difficulty walking, Hypertonia, Growth delay, Abnormality of the pinna, Low-set ears, ... OMIM:123450
Charcot-Marie-Tooth Disease Type 4C
Sensory ataxia, Sensorineural hearing impairment, Vocal cord paralysis, Impaired distal vibration... ORPHA:99949
Foxg1 Syndrome
Scoliosis, Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, St... ORPHA:561854
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Roifman Syndrome
Short metacarpal, Brachydactyly, Hepatomegaly, Retinal dystrophy, Splenomegaly, Eosinophilia, Sho... OMIM:616651
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Radial bowing, Limited elbow extension, Short middle phalanx of finger, Hypoplastic scapulae, Sho... OMIM:210720
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Limb undergrowth, Hepatomegaly, Coxa vara, Splenomegaly, Flared metaphy... OMIM:602557
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, EEG abnormality, Stereotypy OMIM:619150
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Elbow dislocation, Micromelia, Madel... ORPHA:321
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Arthrogryposis multiplex congenita, Hypertonia, Spastic tetraplegia, Stereotypy, Intrauterine gro... OMIM:615282
Marshall Syndrome
Radial bowing, Wide tufts of distal phalanges, Hypoplastic ilia, Coxa valga, Small distal femoral... OMIM:154780
Duane Retraction Syndrome
Narrow internal auditory canal, Abnormal form of the vertebral bodies, Camptodactyly, Blepharospa... ORPHA:233
Mental Retardation, Autosomal Dominant 40
Joint hypermobility, Gait ataxia, Low-set ears, Stereotypy, Impaired pain sensation OMIM:616579
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Low-set ears, Thoracolumbar scoliosis, Acet... OMIM:616549
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Short stature, Stereotypy OMIM:614063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Difficulty walking, Kyphosis, Toe walking, Achilles tendon contracture,... OMIM:606612
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Intrauterine growth retardation, Hearing impairment, Hyperactivity, Tetr... ORPHA:369939
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand OMIM:277150
Trisomy 4P
Radial club hand, Preaxial hand polydactyly, Camptodactyly of finger ORPHA:1738
Kyphomelic Dysplasia
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing, Flat acetabula... OMIM:211350
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Conductive hearing impairment, Cervical C2/C3 vertebral fusion, Hearing impairment, Se... OMIM:118100
Hyperprolinemia, Type I
Stereotypy, EEG abnormality, Ataxia OMIM:239500
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Generalized joint laxity, Genu recurvatum, Difficulty walking, Acetabular dysplasia, Wa... ORPHA:280763
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Scoliosis, Joint laxity, Recurrent otitis media, Umbilical hernia, Sensorineural hearing impairme... ORPHA:500159
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Joint laxity, Spastic diplegia, Postnatal growth retardation, Torticollis, Sensorineura... ORPHA:300570
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Joint laxity, Clonus, Genu recurvatum, Hypertonia, Flexion co... OMIM:617301
Autosomal Recessive Non-Syndromic Intellectual Disability
Hypsarrhythmia, EEG with focal epileptiform discharges, Chorea, Spasticity, Multifocal epileptifo... ORPHA:88616
Optic Atrophy-Intellectual Disability Syndrome
Hearing impairment, Protruding ear, Abnormality of the helix, Optic nerve hypoplasia, Short statu... ORPHA:401777
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Abnormality of the antihelix, Kyphosis, Growth delay, Protruding ear, Stereotypy, Prom... ORPHA:261144
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Hypsarrhythmia, Spasticity ORPHA:500545
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Developmental And Epileptic Encephalopathy 30
Stereotypy, Hypsarrhythmia OMIM:616341
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Conductive hearing impairment, Recurrent otitis media... OMIM:157800
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Low-set ears, Short stature, Short neck, Fused cervical vertebrae ORPHA:2522
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Disproportionate shor... ORPHA:485
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Stereotypy, Optic atr... ORPHA:313892
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Macrotia OMIM:300558
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Inverted Duplicated Chromosome 15 Syndrome
Joint hypermobility, Low-set, posteriorly rotated ears, Growth delay, Stereotypy, Hyperactivity ORPHA:3306
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypoplastic helices, Recurrent otitis media, Flexion contracture, Abnormality o... ORPHA:391372
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Congenital bilateral hip dislocation, Short stature, Hyperactivity ORPHA:85288
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with temporal epileptiform dischar... ORPHA:363558
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Aplasia/Hypopl... ORPHA:3320
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Camptodactyly of toe, Ulnar bowing, Slender long... OMIM:600920
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Dystonia, Craniosynostosis, Abnormal vertebral morphology, Speech apraxia, Conductive ... ORPHA:261197
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Short... OMIM:613686
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Attention deficit hyperactivity disorder, Hyperactivity, Postnatal growth retardati... ORPHA:73272
22Q11.2 Duplication Syndrome
Scoliosis, Growth delay, Hearing impairment, Stereotypy, Anterior creases of earlobe, Attention d... ORPHA:1727
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hemivertebrae, Vertebral fusion, Low-set ears, Underfolded helix, Spinal canal... OMIM:263540
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy, Hepatosplen... OMIM:611490
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Ataxia, Sensorineural hearing impairment, Protruding... ORPHA:2479
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... OMIM:304120
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Alazami Syndrome
Scoliosis, Postnatal growth retardation, Low-set ears, Stereotypy, Stereotypical hand wringing ORPHA:319671
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Scoliosis, Dystonia, Arthrogryposis multiplex congenita, Congenital hip dislocation, Macrotia, Gr... ORPHA:496641
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Radio-Tartaglia Syndrome
Scoliosis, Tremor, Conductive hearing impairment, Ataxia, Low-set ears, Hearing impairment, Stere... OMIM:619312
Cerebral Creatine Deficiency Syndrome 1
Joint hypermobility, Dystonia, Gait disturbance, Aganglionic megacolon, Poor hand-eye coordinatio... OMIM:300352
Ring Chromosome 21 Syndrome
Scoliosis, Holoprosencephaly, Gait disturbance, Fused thoracic vertebrae, Thoracic hemivertebrae,... ORPHA:1445
Potocki-Lupski Syndrome
Scoliosis, Hearing impairment, Short stature, Stereotypy, Hyperactivity OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Stereotypy OMIM:618825
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... OMIM:608571
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Ataxia, Mild postnatal growth retardation, Stereotypy, Upper motor ... ORPHA:530983
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Postnatal gr... ORPHA:2306
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Intellectual Disability, Birk-Barel Type
Congenital finger flexion contractures, Limited elbow flexion/extension, Sacral dimple, Contractu... ORPHA:166108
Farber Lipogranulomatosis
Hepatomegaly, Cherry red spot of the macula, Lipogranulomatosis, Splenomegaly OMIM:228000
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Spastic diplegia, Postnatal growth retardation, Hemivertebrae, Vertebral fu... OMIM:206900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Retinal degeneration, Cholestasis, Hepatic fibrosis, Sho... OMIM:615630
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Radial club hand, Aplasia/Hypoplasia of the thymus ORPHA:3305
Rhyns Syndrome
Radial bowing, Short femoral neck, Brachydactyly, Rod-cone dystrophy OMIM:602152
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Scoliosis, Joint laxity, Macrotia, Recurrent otitis media, Stereotypy, Recurrent hand flapping, H... ORPHA:449291
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Difficulty walking, Recurrent otitis media, Cervical C2/C3 vertebral... ORPHA:370010
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Spastic tetraplegia, Head titubation ORPHA:3240
13Q12.3 Microdeletion Syndrome
Hyperactivity, Camptodactyly, Chronic otitis media, Hearing impairment, Short stature, Impaired p... ORPHA:412035
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Elbow ankylosis, Hypoplasia of the ul... ORPHA:2557
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Spasticity, Hearing impairment, Hyperactivity, Broad-based gait OMIM:300958
Gm1 Gangliosidosis Type 1
Platyspondyly, Macrotia, Beaking of vertebral bodies T12-L3, Low-set ears, Hearing impairment, Ac... ORPHA:79255
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Elbow dislocation, Rhiz... OMIM:108720
Blepharophimosis-Impaired Intellectual Development Syndrome
Scoliosis, Joint laxity, Flexion contracture, Low-set ears, Posteriorly rotated ears, Stereotypy,... OMIM:619293
Tay-Sachs Disease
Inability to walk, Limited elbow extension, Tremor, Incoordination, Clumsiness, Dystonia, Limited... ORPHA:845
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Kohlschutter-Tonz Syndrome-Like
Scoliosis, Joint hypermobility, Tremor, Inability to walk, Upper limb spasticity, Death in adoles... OMIM:619229
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Conductive hearing impairment, Ectopic ossification i... OMIM:135100
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Thrombocytopenia, Hepatomegaly, Anemia, Splenom... ORPHA:2785
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... ORPHA:950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Developmental And Epileptic Encephalopathy 6B
Scoliosis, Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereo... OMIM:619317
Cdkl5-Deficiency Disorder
Scoliosis, Difficulty walking, Kyphosis, Growth delay, Gait disturbance, Impaired pain sensation,... ORPHA:505652
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis, Short greater... OMIM:184253
Rett Syndrome, Congenital Variant
Scoliosis, Dystonia, Apraxia, Chorea, Kyphosis, Protruding ear, Tongue thrusting, Stereotypy, Ath... OMIM:613454
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Macrotia, Camptodactyly, Ataxia, Umbilical hernia, Low-set e... ORPHA:369891
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Cubitus valgus, Camptodactyly of finger, Tremor, Joint hyperflexibility, Kyphosis, Sho... ORPHA:85293
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Abnormality of mesentery morphology, Finger syndac... ORPHA:2256
3P25.3 Microdeletion Syndrome
Scoliosis, Sacral dimple, Abnormality of the outer ear, Ataxia, Sensorineural hearing impairment,... ORPHA:435638
Koolen-De Vries Syndrome
Scoliosis, Overfolded helix, Joint hyperflexibility, Kyphosis, Vertebral fusion, Protruding ear, ... ORPHA:96169
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Abnormali... ORPHA:2319
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormality of the ulna, Abnormality of the metacarpal bones ORPHA:2233
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Proximal/middle symphalangism of 5th finger, Fus... OMIM:184460
Chromosome 5P13 Duplication Syndrome
Scoliosis, Craniosynostosis, Stereotypy, Low-set ears OMIM:613174
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Camptodactyly, Hypoplasia of the ulna, Clinodac... ORPHA:2804
Nail-Patella Syndrome
Limited elbow extension, Triceps aplasia, Biceps aplasia, Hypoplastic radial head, Iliac horns, D... OMIM:161200
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Overfolded helix, Macrotia, Anteverted ears, Kyphosis, Sacral dim... OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Short stature, Hyperactivity, Hip dislocation OMIM:300434
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Synostosis of carpal bo... ORPHA:90652
Smith-Magenis Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Conductive hearing impairment, Gait disturbance... ORPHA:819
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Joint contracture of the 5th finger, Umbilical hernia, Cupped ear, Stereotypy, Joint ... OMIM:618914
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Forearm undergrowth, Absent radius, Bowed forearm bones OMIM:602200
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Recurrent otitis media, Short stature, Spasticity OMIM:615286
Macrocephaly-Developmental Delay Syndrome
Stereotypy, EEG with generalized slow activity, Abnormal speech discrimination ORPHA:397612
Pallister W Syndrome
Radial bowing, Cubitus valgus, Camptodactyly, Hypoplasia of the ulna, Radial deviation of finger,... OMIM:311450
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Head tremor, Limb ataxia, Absent brainstem auditory responses, Sensorineural hearing... ORPHA:101085
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy ORPHA:529799
Mental Retardation, Autosomal Dominant 34
Hearing impairment, Stereotypy OMIM:616351
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Abnormality of extrapyramidal motor function, Low-set, posteriorly rotated ears, Kyphos... ORPHA:521426
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Narrow palm, Abnormality of ulnar metaphysis, Short foot ORPHA:177910
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Joint hypermobility, Hyperactivity OMIM:300143
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Posteriorly rotated ears, Short stature, Hyperactivity, Microtia OMIM:618089
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Growth delay, Hyperactivity, Tetraplegia, Optic atrophy OMIM:274270
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, EEG abnormality OMIM:618760
19P13.3 Microduplication Syndrome
Osteoporosis, Hip subluxation, Hyperactivity, Growth delay, Low-set ears, Posteriorly rotated ear... ORPHA:447980
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Low-set, posteriorly rotated ears, Short stature, Stereotypy, Hyperactivity OMIM:615873