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

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Forepaw

11 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 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
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Metaphyseal Anadysplasia
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... ORPHA:1040
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... ORPHA:1447
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... ORPHA:1570
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... ORPHA:2019
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Robin Sequence-Oligodactyly Syndrome
Hand oligodactyly, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morph... ORPHA:3104
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... ORPHA:3266
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... ORPHA:2632
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... ORPHA:1837
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... ORPHA:971
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Ulnar Hypoplasia
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... OMIM:191440
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... OMIM:127300
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna ORPHA:1122
Prenatal Bowing
Bowing of the long bones OMIM:264050
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Hypoplasia ... OMIM:249700
Radial Hemimelia
Aplasia of the 1st metacarpal, Deviation of the hand or of fingers of the hand, Abnormality of th... ORPHA:93321
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... ORPHA:2634
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... OMIM:176240
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Dyschondrosteosis And Nephritis
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity OMIM:127350
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... ORPHA:52056
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Madelung deformity, Radial bowing, Limited pronation/supination of forearm DECIPHER:58
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... ORPHA:2633
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... ORPHA:1263
Ulnar Hemimelia
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:274600
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia... ORPHA:705
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... OMIM:300614
Distal Monosomy 10Q
Short stature, Postnatal growth retardation, Cochlear malformation, Morphological abnormality of ... ORPHA:96148
Branchiootorenal Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... OMIM:113650
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... ORPHA:52368
Fraxe Intellectual Disability
Hyperactivity, Short stature, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent... ORPHA:100973
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Brachydactyly Type A1
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... ORPHA:93388
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Fragile X Syndrome
Hyperactivity, Macrotia, Abnormal head movements, Recurrent hand flapping, Joint laxity, Scoliosis OMIM:300624
Apert Syndrome
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... ORPHA:87
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology ORPHA:231169
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Kyphosis, Joint contracture of the hand, Short stature, Repetitive compulsive beha... ORPHA:352490
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... OMIM:602111
Gorham-Stout Disease
Osteomyelitis, Abnormality of the cervical spine, Abnormal bone ossification, Torticollis, Abnorm... ORPHA:73
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Impulsivity, Scoliosis, Osteopenia, Low-set ears, Posterior... OMIM:619717
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... OMIM:611584
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology OMIM:300983
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Kyphosis, Intrauterine growth retardation, Neonatal death, Dy... OMIM:618237
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Spina bifida, Abnormal sacrum morphology, Abnormal vertebral seg... ORPHA:2345
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... OMIM:609136
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split... OMIM:119100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... OMIM:200500
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus OMIM:276821
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Multiple Epiphyseal Dysplasia Type 4
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... ORPHA:93307
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... ORPHA:85170
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... OMIM:177170
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Choreoathetosis, Ataxia, Tremor, Growth delay, Bilateral sensorineural hearing imp... OMIM:619422
Wildervanck Syndrome
Abnormality of the outer ear, Fused cervical vertebrae, Pseudopapilledema, Hearing impairment OMIM:314600
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Christianson Syndrome
Gait ataxia, Macrotia, Truncal ataxia, Abnormal repetitive mannerisms, Death in early adulthood, ... ORPHA:85278
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Carpal synostosis OMIM:156232
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hydrocephalus, Abno... ORPHA:207
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... OMIM:605432
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Abnormal head movements, EEG with foca... ORPHA:139431
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Head tremor, Cochlea... ORPHA:95433
Charge Syndrome
Optic atrophy, Holoprosencephaly, Abnormality of bone mineral density, Abnormal cranial nerve mor... ORPHA:138
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Limb ataxia, Impaired propriocep... ORPHA:251282
Acrodysostosis
Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ... ORPHA:950
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Asymmetric radial dysplasia, R... OMIM:171480
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Short... ORPHA:2491
4Q21 Microdeletion Syndrome
Kyphosis, Abnormal repetitive mannerisms, Tremor, Short neck, Scoliosis, Growth delay, Intrauteri... ORPHA:238750
Prader-Willi Syndrome Due To Imprinting Mutation
Narrow palm, Short foot, Abnormal ulnar metaphysis morphology, Small hand ORPHA:177910
Thalidomide Embryopathy
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... ORPHA:3312
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Ulnar bowing, Abn... ORPHA:2878
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna... ORPHA:1972
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Abnormality of th... ORPHA:50815
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... OMIM:164900
Noonan Syndrome
Sensorineural hearing impairment, Short stature, Aplasia of the semicircular canal, Radioulnar sy... ORPHA:648
Kbg Syndrome
Vertebral fusion, Bilateral conductive hearing impairment, Macrotia, Short stature, Thoracic kyph... ORPHA:2332
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Short stature, External ear malformat... ORPHA:915
Dysspondyloenchondromatosis
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... ORPHA:85198
Laurin-Sandrow Syndrome
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... OMIM:135750
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis, Dystonia ORPHA:382
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Fused cervical vertebrae, Short ... OMIM:214300
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Ogden Syndrome
Delayed cranial suture closure, Macrotia, Abnormal head movements, Torticollis, Scoliosis, Low-se... ORPHA:276432
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Fused cervical vertebrae, Short neck, Congenital sensorineural he... ORPHA:3456
Abcd Syndrome
Total intestinal aganglionosis, Abnormal auditory evoked potentials, Aganglionic megacolon, Neona... OMIM:600501
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Arthrogryposis multiplex... OMIM:178110
Oslam Syndrome
Radial deviation of finger, Clinodactyly, Radioulnar synostosis OMIM:165660
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Macrotia, Short stature, Kyphoscoliosis, Anteverted ears OMIM:615541
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... ORPHA:107
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal placement of thumb, Proximal ... OMIM:602418
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping, Attention deficit hyperactivity disorder, Scoliosis OMIM:620021
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... OMIM:142900
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... ORPHA:1856
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Oligod... ORPHA:1307
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Delayed cranial suture closure, Hyperlordosis, Conductive hearing ... ORPHA:794
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Kyphosis, Short stature, Scoliosis, Intrauterine growth retardation, Low-set ears,... OMIM:615834
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Multifocal epileptiform discharges, Abnormal repetitive mannerisms, Large earlobe... ORPHA:411986
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Stereotypical hand wringing, Choreoathetosis, Dystonia, Bruxism OMIM:618497
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Conductive hearing impairment, Short stature, Enlarged vestibular ... OMIM:157800
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Wt Limb-Blood Syndrome
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Short thumb, Radioulnar synostos... OMIM:194350
Arnold-Chiari Malformation Type I
Gait ataxia, Functional abnormality of the inner ear, Cervical C2/C3 vertebral fusion, Adult onse... ORPHA:268882
Lateral Meningocele Syndrome
Meningocele, Vertebral fusion, Conductive hearing impairment, Biconcave vertebral bodies, Kyphosi... OMIM:130720
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Disproportionate short-trunk... ORPHA:93315
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Sensorineural hearing impairment, Short stature, Osteomala... ORPHA:18
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... ORPHA:2741
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Vertebral fusion, Patellar dislocation, Aplasia/Hypoplasia of the ... ORPHA:2916
Nievergelt Syndrome
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Tarsal synostosis, Talipes equinovarus OMIM:163400
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Short stature, Abnormal repetitive mannerisms, Kyphoscoliosis, Scoliosis ORPHA:391307
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Hyperactivity, Tremor, Bruxism OMIM:618718
48,Xxyy Syndrome
Radioulnar synostosis, Abnormal repetitive mannerisms, Elbow dislocation, Ataxia, Tremor, Attenti... ORPHA:10
Syngap1-Related Developmental And Epileptic Encephalopathy
Macrotia, Recurrent hand flapping, Abnormality of pain sensation, Ataxia, Tremor, Anteverted ears... ORPHA:544254
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Wrist flexion contracture, Macrotia, Flexion contracture, Resting tremor, Choreoath... OMIM:300055
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow internal auditory canal, Holoprosencephaly, Low-set, posteriorly rotated ears, Synotia, Ab... ORPHA:990
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Short stature, Block vertebrae, Death in infancy, Vertebral segmenta... OMIM:277300
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Scoliosis, Growth delay, Intrauteri... ORPHA:85284
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia, EEG abnormality OMIM:617268
Ck Syndrome
Hyperlordosis, Hyperactivity, Kyphosis, Joint hypermobility, Scoliosis, Posteriorly rotated ears OMIM:300831
Ck Syndrome
Hyperactivity, Joint hypermobility, Kyphoscoliosis, Posteriorly rotated ears, Lumbar hyperlordosis ORPHA:251383
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing... OMIM:610706
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna,... OMIM:227270
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Macrotia, Birth length less than 3rd percentile, Stereotypical hand wringing, Shor... OMIM:614104
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Short stature, Acetabular dysplasia, Short neck, Lo... OMIM:616549
Alazami Syndrome
Stereotypical hand wringing, Abnormal repetitive mannerisms, Scoliosis, Abnormal eating behavior,... ORPHA:319671
Xq21 Microdeletion Syndrome
Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, A... ORPHA:1435
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Tracheobronchomalacia, Sensorineural hearing impairment, Joint laxity, Recurrent otitis media, Ab... ORPHA:500159
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Short stature, Protruding ear, Tremor, Attention... OMIM:618342
Diamond-Blackfan Anemia 11
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... OMIM:614900
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Microtriplication 11Q24.1
Genu valgum, Joint dislocation, Short stature, Limitation of joint mobility, Short neck, Posterio... ORPHA:289522
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... ORPHA:3320
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Self hugging, Short stature, Abnormality of the outer ear, Impaired ... OMIM:182290
Duane Retraction Syndrome
Narrow internal auditory canal, Sensorineural hearing impairment, Blepharospasm, Camptodactyly, S... ORPHA:233
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Foxg1 Syndrome
Short stature, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, Kyph... ORPHA:561854
Optic Atrophy 11
Hyperactivity, Macrotia, Optic atrophy, Short stature, Ataxia, Optic nerve hypoplasia, Facial dip... OMIM:617302
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ... OMIM:617301
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment,... OMIM:118100
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing ORPHA:1765
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Optic atrophy, Butterfly vertebrae, Abnormal repetitive mannerisms, Thoracic ky... ORPHA:313892
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Short neck, Low-set ears ORPHA:2522
Acromesomelic Dysplasia 4
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Short meta... OMIM:619636
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Short stature, Abnormal repetitive mannerisms ORPHA:457240
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... ORPHA:363558
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Hyperactivity, Kyphosis, Short stature, Joint laxity, Delayed puberty, Tremor, Abnor... OMIM:300354
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Macrotia, Short stature, Hydrocephalus, Agitation, Restlessness OMIM:300558
Kniest Dysplasia
Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae, Vertebral wedging, Hypoplasia o... ORPHA:485
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Short stature, Repetitive compulsive behavior, Optic nerve hypoplasia, Compulsive ... ORPHA:401777
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Abnormal pelvic girdle bone morphology, Hand oligodacty... ORPHA:1788
22Q11.2 Duplication Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivity disorder, S... ORPHA:1727
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Coxa vara, Short 1st metacarpal, Radial bowing, Ivory epiphyses, Narrow p... OMIM:210720
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Joint laxity, Dysmetria, Scoliosis, Low-set ears, Posteriorly rotated ears OMIM:617773
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition of the cochlea type II,... OMIM:617660
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Kyphosis, Abnormal repetitive mannerisms, Scoliosis, Growth delay,... ORPHA:261144
9P13 Microdeletion Syndrome
Short stature, Bruxism, Hand tremor, Recurrent otitis media, Abnormality of cartilage of external... ORPHA:324313
Multiple Osteochondromas
Deformed radius, Genu valgum, Coxa valga, Abnormal carpal morphology, Femoroacetabular impingemen... ORPHA:321
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia, Jerky head movements ORPHA:240103
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Developmental And Epileptic Encephalopathy 110
Low-set ears, Bruxism, Macrotia, Continuous spike and waves during slow sleep OMIM:620149
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Truncal ataxia, Anterior concavity of thoracic vertebrae, Recurrent hand flapping,... OMIM:617101
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Hyperactivity, Scoliosis, Hearing impairment ORPHA:457260
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Joint hypermobility, Growth delay, Low-set, poster... ORPHA:3306
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response, Macrotia, Short stature, Optic nerve hypoplasia, Joint cont... OMIM:617864
Intellectual Developmental Disorder, Autosomal Dominant 48
Tracheobronchomalacia, Hyperactivity, Sensorineural hearing impairment, Joint laxity, Recurrent o... OMIM:617751
Tick-Borne Encephalitis
Somatic sensory dysfunction, Back pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, A... ORPHA:297
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Genu valgum, Sensorineural hearing impairment, Normal pressure hydrocephalus, Thoracic scoliosis,... ORPHA:300570
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Craniosynostosis, Choreoathetosi... ORPHA:261197
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radius, Radioulnar syn... OMIM:617604
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Short stature, Vertebral segmentation defect, Hip dislocation, Scolio... ORPHA:96169
Kyphomelic Dysplasia
Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, Femoral bowing,... OMIM:211350
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ankle clonus, Ataxia, Low-set ears, Posteriorly rotated ears OMIM:618598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scolio... OMIM:606612
Huntington Disease-Like 1
Gait ataxia, Chorea, Abnormal head movements, Dysmetria, Restlessness, Jerky head movements ORPHA:157941
Intellectual Developmental Disorder, Autosomal Dominant 52
Pica, Hyperactivity, Sensorineural hearing impairment, Lumbar scoliosis, Asymmetry of the ears, L... OMIM:617796
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Macrotia, Hyperactivity, Kyphosis, Short stature, Hip dislocatio... OMIM:610443
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Macrotia, Recurrent hand flapping, Joint laxity, Recurrent otitis media, Abnormal ... ORPHA:449291
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Sacral dimple, Pica, Short stature, Recurrent hand flapping, Low-set ears OMIM:618480
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Macrotia, Optic atrophy, Abnormal repetitive mannerisms, Ataxia, Congenital hip dislocation, Scol... ORPHA:496641
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Thoracic kyphosis, Fused cervical vertebrae, Mild postnatal growth ... ORPHA:530983
Larsen Syndrome
Vertebral fusion, Conductive hearing impairment, Accessory carpal bones, Spondylolysis, Short sta... OMIM:150250
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Macrotia, Generalized joint laxity, Facet joint arthrosis, Osteoarthritis, ... OMIM:618000
Severe Intellectual Disability And Progressive Spastic Paraplegia
Generalized joint laxity, Short stature, Acetabular dysplasia, Abnormal repetitive mannerisms, Dy... ORPHA:280763
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Hyperactivity, Macrotia, Short stature, Camptodactyly, Agitation, Ataxia, Short neck, Arthrogrypo... ORPHA:369891
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Hearing impairment, Intrauterine growth retardation, Optic atrophy ORPHA:369939
Megalocornea-Intellectual Disability Syndrome
Genu varum, Sensorineural hearing impairment, Kyphosis, Short stature, Abnormal repetitive manner... ORPHA:2479
Charge Syndrome
Sensorineural hearing impairment, Radial head subluxation, Microtia, Postnatal growth retardation... OMIM:214800
Intellectual Disability, Birk-Barel Type
Sacral dimple, Congenital finger flexion contractures, Foot joint contracture, Hyperactivity, Lim... ORPHA:166108
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Sho... ORPHA:73272
Acromesomelic Dysplasia 1
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... OMIM:602875
Holzgreve Syndrome
Abnormal morphology of ulna, Abnormal metacarpal morphology, Hand polydactyly ORPHA:2167
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Flexion contracture, Hypoplastic helices, Abnormality of the ear, Repetitive compulsive behavior,... ORPHA:391372
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... OMIM:609441
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Impulsivity, Joint hypermobility OMIM:300143
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Lower limb undergrowth, Abnormality of fibula morphology, Bowing of the long bones... ORPHA:3035
Smith-Magenis Syndrome
Conductive hearing impairment, Short stature, Abnormal repetitive mannerisms, Impaired pain sensa... ORPHA:819
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Abnormal ... ORPHA:251014
Isotretinoin-Like Syndrome
Anotia, Microtia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hea... ORPHA:2306
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Macrotia, Beaking of vertebral bodies T12-L3, Acetabular dysplasia,... ORPHA:79255
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment, Ectopic ossification in ligament... OMIM:135100
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... ORPHA:570
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis, Proximal/middle sym... OMIM:184460
3P25.3 Microdeletion Syndrome
Sacral dimple, Knee flexion contracture, Sensorineural hearing impairment, Abnormal repetitive ma... ORPHA:435638
Temtamy Preaxial Brachydactyly Syndrome
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... OMIM:605282
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Osteoporosis, Scolios... OMIM:617190
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta, Attention def... OMIM:619227
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Myelomeningocele, Encephalocele, Increased bone mineral density, Synosto... ORPHA:90652
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Camptodactyly, Impaired pain sensation, Kyphoscoliosis, Chronic oti... ORPHA:412035
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Short stature, Abnormal repetitive mannerisms, Compulsive behavior... ORPHA:1001
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short stature, Moderate hearing impairment, Recurrent otitis media ORPHA:370010
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Scoliosis, Joint stiffness, Hearing... OMIM:252900
Ivic Syndrome
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... OMIM:147750
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia, Jerky head movements OMIM:245348
Camurati-Engelmann Disease
Genu valgum, Coxa valga, Abnormality of the humerus, Abnormal morphology of the radius, Cortical ... ORPHA:1328
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Macrocephaly-Developmental Delay Syndrome
EEG with generalized slow activity, Abnormal speech discrimination, Abnormal repetitive mannerisms ORPHA:397612
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Short stature, Recurren... OMIM:213980
19P13.3 Microduplication Syndrome
Hip subluxation, Hyperactivity, Microtia, Hip dislocation, Osteoporosis, Kyphoscoliosis, Growth d... ORPHA:447980
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnor... OMIM:301013
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Microtia, Ataxia, Impulsivity, Attached earlobe, Dystonia, Umbilical hernia OMIM:616977
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Short stature, Fused cervical vertebrae, Optic nerve hypoplasia, S... OMIM:609053
Ritscher-Schinzel Syndrome 3
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... OMIM:619135
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Death in infancy OMIM:618845
Huntington Disease-Like 3
Chorea, Flexion contracture, Abnormal head movements, Progressive gait ataxia, Dystonia ORPHA:157946
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A... OMIM:265000
Kbg Syndrome
Vertebral fusion, Macrotia, Vertebral arch anomaly, Short stature, Thoracic kyphosis, Short neck,... OMIM:148050
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Sensorineural hearing impairment, Capitate-ha... OMIM:272460
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Short neck, Chronic otitis media, Hearing impairment, Sacral dimp... ORPHA:96121
Atelosteogenesis, Type I
Neonatal death, Encephalocele, Vertebral hypoplasia, Rhizomelia, Fused cervical vertebrae, Elbow ... OMIM:108720
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Recurrent otitis media OMIM:301076
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Ataxia, Prolonged brainstem auditory evoked potentia... OMIM:616881
Ring Chromosome 21 Syndrome
Short stature, Thoracic hemivertebrae, Holoprosencephaly, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Achondroplasia
Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Short femur, Bowing of the legs, Fem... OMIM:100800
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Finger joint hypermobility, Recurrent otitis media, Attention deficit hyperactivit... OMIM:301069
Verheij Syndrome
Vertebral fusion, Short stature, Hip dislocation, Short neck, Scoliosis, Growth delay, Hemivertebrae OMIM:615583
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Scoliosis, Hearing impairment OMIM:300958
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Genu valgum, Senso... OMIM:305620
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Darwin tubercle of helix, Thickened helices, Joint hypermobility OMIM:619122
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Contractures of the large joints, Sensorineural hearing impairment,... ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Contractures of the large joints, Optic atrophy, Kyphosis, Dysphagi... OMIM:617527
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Conductive hearing impairment, Radioulnar synostosis, Congenital hip dis... OMIM:263750
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Single transverse palmar cre... OMIM:617866
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Hyperactivity, Short stature, Tics, Impaired pain sensation, Chronic oti... ORPHA:261211
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Hepatosplenomegaly, Phocomeli... OMIM:274000
Oslam Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger ORPHA:2760
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Myelomeningocele, Short stature, Block vertebrae, Vertebral segmentation defect... OMIM:613686
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Accelerated skeletal maturation, Ataxia, Scoliosis, Low-set ears, Posteriorly rota... OMIM:618430
Rauch-Steindl Syndrome
Sacral dimple, Hyperactivity, Prominent crus of helix, Short stature, Miscarriage, Attached earlo... OMIM:619695
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Chorea, Macrotia, Prominent crus of helix, Stereotypical hand wringing, Bruxism, Ataxia, Joint hy... OMIM:617804
Mucopolysaccharidosis Type 2
Flexion contracture of digit, Conductive hearing impairment, Sensorineural hearing impairment, Ot... ORPHA:580
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Sacrococcygeal teratoma, Low-set ears, Neural tube de... ORPHA:798
Cri-Du-Chat Syndrome
Hyperactivity, Optic atrophy, Short neck, Scoliosis, Abnormal pinna morphology, Overfriendliness,... OMIM:123450
19P13.12 Microdeletion Syndrome
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Kyphosis, Arthrog... ORPHA:254346
Martsolf Syndrome 1
Short phalanx of finger, Short toe, Broad femoral neck, Avascular necrosis of the capital femoral... OMIM:212720
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment, Short stature, Delayed skeletal maturation, Oste... OMIM:608747
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Macrotia, Communicating hydrocephalus, Short neck, Hemivertebrae... ORPHA:1780
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hyperactivity, Kyphosis, Short stature, Tremor, Short neck, Abnormal ear... ORPHA:85293
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Kyphoscoliosis, Dysphagia, Beaking ... OMIM:252930
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Short stature, Ataxia, Posteriorly rotated ears, Low-set ears, Craniosynostosis, W... OMIM:601853
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Chorea, Macrotia, Repetitive compulsive behavior, Ataxia, Pain insensitivity, Dysphagia, Low-set ... OMIM:300260
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination, G... OMIM:244600
Dyggve-Melchior-Clausen Disease
Genu valgum, Hypoplastic acetabulae, Hyperactivity, Rhizomelia, Broad carpal bones, Hypoplasia of... ORPHA:239
Intellectual Developmental Disorder, Autosomal Dominant 22
Short stature, Stereotypical hand wringing, Growth delay, Abnormal pinna morphology, Low-set ears... OMIM:612337
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius OMIM:602200
Wiedemann-Steiner Syndrome
Sacral dimple, Hyperactivity, Abnormality of the elbow, Rhizomelia, Short stature, Accelerated sk... ORPHA:319182
Seckel Syndrome 1
Hyperactivity, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Delayed skelet... OMIM:210600
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... ORPHA:1724
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivertebrae ORPHA:377
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Repetitive compulsive behavior, Ataxia, Action tremor, Growth delay, Bilateral sen... ORPHA:66634
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Hyperactivity, Macrotia, Joint contracture of the hand, S... ORPHA:363528
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... OMIM:113000
Stankiewicz-Isidor Syndrome
Sacral dimple, Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment OMIM:617516
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Recurrent hand flapping, Torticollis, Recurrent otitis media, Tremor, Attention def... OMIM:619680
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Butterfly vertebrae, Severe short stature, Short neck, Scoliosis... OMIM:122600
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia OMIM:615574
Marshall Syndrome
Coxa valga, Hypoplastic ilia, Radial bowing, Irregular distal femoral epiphysis, Ulnar bowing, Cl... OMIM:154780
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Optic atrophy, Short stature, Joint laxity, Abno... ORPHA:468678
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Joint contracture of the hand, Slender long bone, Long hallux, Cam... OMIM:600920
Sifrim-Hitz-Weiss Syndrome
Short stature, Fused cervical vertebrae, Flat acetabular roof, Low-set ears, Cupped ear, Hearing ... OMIM:617159
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Joint stiffness, Hearing impairment OMIM:252920
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Treacher-Collins Syndrome
Conductive hearing impairment, Encephalocele, Narrow internal auditory canal, Blepharospasm, Micr... ORPHA:861
Bilateral Generalized Polymicrogyria
Short stature, Oculogyric crisis, Abnormal repetitive mannerisms, Growth delay, Dystonia, Oral-ph... ORPHA:208447
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Rett Syndrome, Congenital Variant
Chorea, Kyphosis, Protruding ear, Tongue thrusting, Scoliosis, Athetosis, Dystonia, Bruxism OMIM:613454
Adenylosuccinase Deficiency
Gait ataxia, Hyperactivity, Prominent metopic ridge, Growth delay, Low-set ears, Opisthotonus OMIM:103050
3Q29 Microdeletion Syndrome
Macrotia, Attention deficit hyperactivity disorder, Joint hyperflexibility, Six lumbar vertebrae,... ORPHA:65286
Ocular Motor Apraxia
Jerky head movements OMIM:257550
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Short stature, Tics, Joint laxity, Optic nerve h... OMIM:616364
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms, Ataxia, Congenital hip dislocation, Scoliosis, Low-set ears, Cont... ORPHA:457279
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Knee flexion contracture, Multiple joint contractures, Craniosynostosis,... ORPHA:468631
Tay-Sachs Disease
Exaggerated startle response, Ankle clonus, Optic atrophy, Dysmetria, Tremor, Limited knee extens... ORPHA:845
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Ankle clonus, Flexion contracture, Optic atrophy, Kyphosis, Scolios... OMIM:609541
Fibrous Dysplasia Of Bone
Coxa vara, Abnormality of the humerus, Abnormal morphology of the radius, Abnormal pelvis bone mo... ORPHA:249
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Conductive hearing impairment, Sensorineural ... ORPHA:1826
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Sh... OMIM:268310
Microphthalmia, Syndromic 3
Vertebral fusion, Sensorineural hearing impairment, Vertebral hypoplasia, Short stature, Optic ne... OMIM:206900
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Hyperactivity, Thoracic scoliosis, Short stature, Elbow flexion co... OMIM:252940
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Jerky head movements, Delayed skeletal maturation, Osteopenia, Scoliosis, Lo... ORPHA:369837
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Small hand, Finger symphalangism, Abnormality... ORPHA:2911
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Hyperactivity, Short stature, Microtia, Camptodactyly, Recurrent otitis media, Ton... ORPHA:261323
Myhre Syndrome
Vertebral fusion, Birth length less than 3rd percentile, Microtia, Short stature, Camptodactyly, ... OMIM:139210
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Short stature, Spina bifida, Fused cervical ver... ORPHA:508498
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... OMIM:602450
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Ulnar-Mammary Syndrome
Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno... ORPHA:3138
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Abnormal cranial nerve morp... ORPHA:90024
Norrie Disease
Macrotia, Sensorineural hearing impairment, Optic atrophy, Abnormal repetitive mannerisms, Delaye... ORPHA:649
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Sensorineural hearing impairment, Scoliosis, Abnormal repetitive mannerisms ORPHA:457351
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of the cervical spine, Kyphosis, Birth length less than 3rd percentile, Abnormal repe... ORPHA:464311
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Paget Disease Of Bone 2, Early-Onset
Femoral bowing, Short femur, Osteosclerosis of the ulna, Bowing of the long bones, Fractures of t... OMIM:602080
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Exaggerated startle response, Multiple joint con... ORPHA:320406
2Q23.1 Microdeletion Syndrome
Hyperactivity, Short stature, Ataxia, Abnormal repetitive mannerisms, Polyphagia, Growth delay ORPHA:228402
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Humeroradial synostosis, Narrow pelvis bone, Ulnar bowing, Camptodactyly, Femoral bowing, Arachno... OMIM:207410
Acro-Renal-Ocular Syndrome
Vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment, Aganglionic me... ORPHA:959
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scol... ORPHA:1436
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Macrotia, Abnormality of the cervical spine, Multiple joint contractures, Kyphosis... ORPHA:464306
Transketolase Deficiency
Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivity disorder, P... ORPHA:488618
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Microtia, Camptodactyly, Hyperextensible hand joints, Proportionate short statu... OMIM:227330
Waardenburg Syndrome, Type 1
Spina bifida, Supernumerary vertebrae, Myelomeningocele, Congenital sensorineural hearing impairment OMIM:193500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Abnormal autonomic nervous system physiology, Vertebral segmentation defect, I... ORPHA:453499
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Ankle clonus, Ataxia, Dysmetria, Myelopathy, Dysphagia, Hamstring contractures, He... ORPHA:139396
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... ORPHA:581
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Collectionism, Abnormal repetitive mannerisms ORPHA:275864
Kleefstra Syndrome
Thickened helices, Short stature, Abnormal repetitive mannerisms, Limitation of joint mobility, H... ORPHA:261494
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Caudal Regression Syndrome
Arrhinencephaly, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Impuls... ORPHA:3027
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Monosomy 9Q22.3
Hyperactivity, Kyphosis, Thickened ears, Hydrocephalus, Accelerated skeletal maturation, Short ne... ORPHA:77301
Autosomal Recessive Ataxia Due To Pex10 Deficiency