Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NIPBL cohesin loading factor
Synonyms:
4921518A06Rik,  4933421G18Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Hypoplasia of the corpus ... OMIM:175700
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Contractures of the large joints, Short humerus, T... OMIM:616716
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Low-set ears, Broad thumb, Hearing impairment, Overlapping toe, Hypoplasia of the corpus callosum... OMIM:617452
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Joint contracture of the hand, Micrognathia, Joint contracture of the 5th finger, N... ORPHA:352490
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Small hand, Clinodactyly, Downslanted palpebral fissures, Hypertrophic car... OMIM:300590
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Hearing impairment, Postnatal growth retardation, Overlapping toe, Micrognathia, Ep... OMIM:613792
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Flared metaphysis, Micromelia, Thoracic hypoplasia, ... OMIM:211350
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h... OMIM:609052
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Abnormal calvaria morphology, Wide nasal bridge, Microretrognathia, Cerebellar atro... ORPHA:89844
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Aplasia/Hypoplasia of the corpus c... ORPHA:505237
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Microcephaly, Delayed pubert... OMIM:233270
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Al Kaissi Syndrome
Low-set ears, Small hand, Clinodactyly, Postnatal growth retardation, Hypoplasia of the corpus ca... OMIM:617694
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Micrognathia, Epicanthus, Short palpebral fissure, Downslanted palpebral fissures, ... OMIM:615834
Catel-Manzke Syndrome
Highly arched eyebrow, Abnormal epiphysis morphology, Failure to thrive, Camptodactyly of finger,... ORPHA:1388
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ven... ORPHA:79243
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... ORPHA:2831
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Highly arched eyebrow, Retrognathia, Macrotia, Preaxial polydactyly, Intrauterine g... OMIM:618142
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Hearing impairment, Clinodactyly, Overfriendliness, Ventricular septal defect, Epic... ORPHA:369891
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Obesity, Femoral bowing, Short... ORPHA:174
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Short thorax, Joint stiffness, Micrognath... ORPHA:1801
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Micrognathia, Knee flexion contracture, Agenesis of corpus callosum, Decreased body ... OMIM:616681
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Wide nasal bridge, Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Abnorma... ORPHA:93267
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Low-set ears, Aortic valve stenosis, Small hand, Micrognathia, Bilateral single transverse palmar... ORPHA:459061
Inverted Duplicated Chromosome 15 Syndrome
Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Joint hyp... ORPHA:3306
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Cerebel... OMIM:616570
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... OMIM:602471
Aminopterin Syndrome Sine Aminopterin
Low-set ears, Joint contracture of the hand, Clinodactyly, Micrognathia, Decreased body weight, A... OMIM:600325
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl... ORPHA:1937
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Hearing impairment, Genu valgum, Arachnodactyly, Bicuspid aortic valve, Atrial septa... OMIM:619721
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Secondary microcephaly,... OMIM:620073
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Growth delay, Agenesis of corpus callosum, Microcephaly, Macroceph... OMIM:217990
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Highly arched eyebrow, Flat occiput, Hearing impairment, Hypoplasia of the... OMIM:608716
Chromosome 15Q26-Qter Deletion Syndrome
Low-set ears, Wide nasal bridge, Small for gestational age, Failure to thrive, Intrauterine growt... OMIM:612626
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Lateral ventricle dilatation, Recurrent otitis media, Hypoplasia of the corpus call... OMIM:617751
Weiss-Kruszka Syndrome
Low-set ears, Highly arched eyebrow, Hearing impairment, Downslanted palpebral fissures, Abnormal... ORPHA:502430
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes equi... OMIM:108720
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Clinodactyly, Cerebral atrophy, Genu valgum, ... ORPHA:166024
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow... OMIM:201000
Fetal Trimethadione Syndrome
Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Intrauterine growth retardation, Mi... ORPHA:1913
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis mo... ORPHA:93351
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Pierpont Syndrome
Chiari malformation, Hearing impairment, Unilateral narrow palpebral fissure, Large fleshy ears, ... OMIM:602342
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
8Q12 Microduplication Syndrome
Wide nasal bridge, Highly arched eyebrow, Telecanthus, Abnormal cranial nerve morphology, Sensori... ORPHA:228399
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Hypoplasia of the corpus callosum, Sensorine... ORPHA:500159
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... OMIM:616897
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Blepharophimosis, Narrow palpebral fissure, Motor stereotypy, S... OMIM:600430
Roifman Syndrome
Recurrent otitis media, Postnatal growth retardation, Hip contracture, Ventricular septal defect,... OMIM:616651
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Congenital fibrosis of... OMIM:610031
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Low-set, posteriorly rotated ears, Intrauterine growth re... ORPHA:2370
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Recombinant Chromosome 8 Syndrome
Low-set ears, Joint contracture of the hand, Growth delay, Hearing impairment, Cerebral atrophy, ... OMIM:179613
Roifman Syndrome
Epiphyseal dysplasia, Recurrent otitis media, Postnatal growth retardation, Bilateral single tran... ORPHA:353298
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Atopic dermatitis, Severe short stature, Dysplasia o... OMIM:616854
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaph... OMIM:300887
Pierpont Syndrome
Abnormal cortical gyration, Chiari malformation, Hearing impairment, Prominent fingertip pads, Sh... ORPHA:487825
Warburg Micro Syndrome 1
Low-set ears, Cerebellar vermis hypoplasia, Optic atrophy, Wide nasal bridge, Failure to thrive, ... OMIM:600118
Smith-Magenis Syndrome
Abnormal forearm morphology, Hearing impairment, Abnormal middle ear morphology, Increased body w... OMIM:182290
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Intellectual Disability-Strabismus Syndrome
Low-set ears, Joint contracture of the hand, Limitation of joint mobility, Hearing impairment, Re... ORPHA:363528
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Cerebral atrophy, Downslanted palpebral fissures, Atrophic scars, Telecanthus, Facial hypotonia, ... OMIM:615539
Muenke Syndrome
Broad thumb, Hearing impairment, Clinodactyly, Recurrent otitis media, Sensorineural hearing impa... OMIM:602849
Radio-Tartaglia Syndrome
Low-set ears, Hearing impairment, Micrognathia, Agenesis of corpus callosum, Ventricular septal d... OMIM:619312
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
6Q25 Microdeletion Syndrome
Wide nasal bridge, Plagiocephaly, Failure to thrive, Downslanted palpebral fissures, Camptodactyl... ORPHA:251056
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
19P13.12 Microdeletion Syndrome
Low-set ears, Finger syndactyly, Hypoplasia of the corpus callosum, Sensorineural hearing impairm... ORPHA:254346
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low-set ears, Clinodactyly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... OMIM:617360
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Limb muscle weakness, Agenesis of corpus callosum, Short nose, Macrotia, Hypoplasia of the maxill... OMIM:218000
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Distal Deletion 10Q
Low-set ears, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Clinodactyly, ... ORPHA:96148
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Microcephaly, Brachydactyly, Short statur... ORPHA:391646
Craniofrontonasal Dysplasia
Wide nasal bridge, Plagiocephaly, Finger syndactyly, Sandal gap, Downslanted palpebral fissures, ... ORPHA:1520
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Retrognathia, Large fleshy ears, Abnormal heart morphology, Telecanthus, Micrognath... OMIM:263210
Distal 7Q11.23 Microdeletion Syndrome
Chiari malformation, Microcephaly, Aggressive behavior, Attention deficit hyperactivity disorder,... ORPHA:254351
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Frontonasal Dysplasia 1
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Hypoplasia of the maxilla, Conduc... OMIM:136760
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Epicanthus, Blepharophimosis, Short nose, Short toe, Low-set, posteriorly rotated... ORPHA:1327
Pentasomy X
Wide nasal bridge, Small hand, Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotat... ORPHA:11
Ventriculomegaly And Arthrogryposis
Hand clenching, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinov... OMIM:619501
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Plagiocephaly, Dilated cardiomyopathy, Aplasia/Hypoplasia of t... ORPHA:272
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calci... OMIM:222765
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Um... ORPHA:380
Wiedemann-Steiner Syndrome
Low-set ears, Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interpha... OMIM:605130
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Increased bone mineral density, Short humerus, Lateral femoral bow... OMIM:239000
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Small hand, Polymicrogyria, Secondary microcephaly, Intrauterine growth ... OMIM:615282
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Cerebral cortical atrophy, Horizontal eyebrow, Large fleshy ears, Obesity, Hyp... ORPHA:352530
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Low-set ears, Toe syndactyly, Broad thumb, Micrognathia, Agenesis of corpus callosum, Epicanthus,... OMIM:619720
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Finger syndactyly, Clinodactyly, 2-5 finger cutaneous syndactyly, Symphalangism o... ORPHA:3246
ERI1-related disease
Low-set ears, Micrognathia, Ventricular septal defect, Decreased body weight, Epicanthus, Finger ... OMIM:608739
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Osteopenia, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Recurre... OMIM:619717
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Wide nasal bridge, Multiple suture craniosynostosis, Se... ORPHA:3369
Coffin-Siris Syndrome 6
Low-set ears, Plagiocephaly, Conductive hearing impairment, Clinodactyly, Retrognathia, Downslant... OMIM:617808
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, Ventricular septal ... ORPHA:435638
Non-Distal Duplication 10Q
Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Micrognathia, Joint hypermobil... ORPHA:1695
Chromosome 2P16.1-P15 Deletion Syndrome
Low-set ears, Joint contracture of the hand, Hypoplasia of the pons, Hearing impairment, Postnata... OMIM:612513
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Brachycephaly, Hip subluxat... OMIM:620200
Baraitser-Winter Syndrome 1
Low-set ears, Aortic valve stenosis, Postnatal growth retardation, Agenesis of corpus callosum, S... OMIM:243310
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Postnatal growth retardation, Sensorineural hearing impairment, Ventricular septal ... OMIM:212066
Lissencephaly 4
Wide nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary micr... OMIM:614019
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Secondary microcephaly, Postnatal growth retardation, Hypoplasia of the corpus call... OMIM:620113
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Slender build, Aggressive behavior, Brachycephaly, Frontal cortical atro... OMIM:300699
21Q22.11Q22.12 Microdeletion Syndrome
Low-set ears, Clinodactyly, Recurrent otitis media, Postnatal growth retardation, Agenesis of cor... ORPHA:261323
Insulin-Like Growth Factor I, Resistance To
Low-set ears, Small hand, Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Hypopl... OMIM:270450
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Low-set ears, Osteopenia, Global brain atrophy, Plagiocephaly, Cerebral atrophy, Downslanted palp... OMIM:616801
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Lujan-Fryns Syndrome
Low-set ears, Hypoplasia of the maxilla, Camptodactyly of finger, Aplasia/Hypoplasia of the corpu... ORPHA:776
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Short palm ORPHA:93328
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Short distal phalanx of finger, Hypoplasia of the maxilla, Small for... OMIM:614261
Macrocephaly, Acquired, With Impaired Intellectual Development
Sparse eyebrow, Downslanted palpebral fissures, Probst bundles, Agenesis of corpus callosum, Aggr... OMIM:618286
Trisomy 10P
Low-set ears, Decreased muscle mass, Thumb contracture, Micrognathia, Periventricular white matte... ORPHA:171929
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Hip contracture,... OMIM:193700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Hypoplasia of ... OMIM:301056
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Small hand, Toe syndactyly, Hearing impairment, Retrognathia, Postnatal gr... OMIM:300882
Hoxha-Aliu Syndrome
Low-set ears, Overlapping toe, Absent fifth metatarsal, Epicanthus, Atrial septal defect, Uplifte... OMIM:620662
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Lateral ventricle dilatation, Secondary microcephaly, Ventricular sept... OMIM:619229
Marden-Walker Syndrome
Low-set ears, Inferior cerebellar vermis hypoplasia, Joint contracture of the hand, Decreased mus... OMIM:248700
Pontocerebellar Hypoplasia, Type 3
Low-set ears, Optic atrophy, Reduced cerebral white matter volume, Cerebellar atrophy, Hypoplasia... OMIM:608027
Suleiman-El-Hattab Syndrome
Low-set ears, Palpebral thickening, Hearing impairment, Clinodactyly, Ventricular septal defect, ... OMIM:618950
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Ventricular septal defect, Epicanthus, Atrial septal defect, Motor stereotypy, Dysp... OMIM:617061
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Kleefstra Syndrome Due To A Point Mutation
Self-injurious behavior, Plagiocephaly, Natal tooth, Tracheomalacia, Hearing impairment, Umbilica... ORPHA:261652
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Basal ganglia calcification, Micrognathia, Agenesis... OMIM:214150
Coffin-Siris Syndrome 2
Abnormal corpus callosum morphology, Short distal phalanx of finger, Hearing impairment, Sandal g... OMIM:614607
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Feingold Syndrome 2
Short thumb, Secondary microcephaly, 3-4 toe syndactyly, Postnatal growth retardation, Short midd... OMIM:614326
German Syndrome
Wide nasal bridge, Limitation of joint mobility, Downslanted palpebral fissures, Camptodactyly of... ORPHA:2077
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, ... OMIM:615419
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... OMIM:271650
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus... OMIM:618492
White-Sutton Syndrome
Low-set ears, Broad thumb, Micrognathia, Congenital diaphragmatic hernia, Hypoplasia of the corpu... OMIM:616364
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Hypoplasia of the pons, Micrognathia, Agenesis of corpus callosum, Sensorineural he... OMIM:619512
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Hypoplasia of the pons, Ventricular septal defect, Microcephaly, Atrial septal defect, Dystonia, ... OMIM:614249
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Postnatal growth retardation, Micrognathia, Narrow palpebral fissure, Bilater... ORPHA:439822
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia,... ORPHA:2635
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Growth delay, Clinodactyly, Downslanted palpebral fissures, Teleca... OMIM:619980
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Postaxial polydac... OMIM:615633
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Low-set ears, Optic atrophy, Hand clenching, Parietal cortical atrophy, Micrognathia, Agenesis of... OMIM:618766
Toriello-Carey Syndrome
Low-set ears, Hearing impairment, Clinodactyly, Postnatal growth retardation, Micrognathia, Hypop... ORPHA:3338
Chromosome 5P13 Duplication Syndrome
Low-set ears, Agenesis of corpus callosum, Epicanthus, Blepharophimosis, Large hands, Motor stere... OMIM:613174
Bohring-Opitz Syndrome
Low-set ears, Overlapping toe, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpu... OMIM:605039
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Agenesis of corpus callosum, Sensorineural hearing impairment, Epicanthus, Ventricu... OMIM:612582
Phenobarbital Embryopathy
Low-set ears, Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Abnormal mitral valve morpholog... ORPHA:1919
Clark-Baraitser Syndrome
Low-set ears, Clinodactyly, Sandal gap, Large earlobe, Obesity, Upslanted palpebral fissure, Micr... OMIM:617752
Filippi Syndrome
Wide nasal bridge, Optic atrophy, 2-4 toe syndactyly, Cerebellar atrophy, Finger clinodactyly, Se... OMIM:272440
16P12.1P12.3 Triplication Syndrome
Low-set ears, Epicanthus, Atrial septal defect, Short nose, Short 5th finger, Short palpebral fis... ORPHA:485405
Joubert Syndrome 18
Retrognathia, Intrauterine growth retardation, Trident pelvis, Joint hypermobility, Agenesis of c... OMIM:614815
Emanuel Syndrome
Low-set ears, Aortic valve stenosis, Chiari malformation, Hearing impairment, Recurrent otitis me... ORPHA:96170
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth ... OMIM:616171
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide nasal bridge, Frontal bossing, Umbilical hernia, Intrauterine growth retardation, Thick eyeb... ORPHA:1292
Smith-Magenis Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Delayed eruption of prim... ORPHA:819
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Tracheomalacia, Cardiomyopathy, Clinodactyly, Short nose, Telecanthus, M... OMIM:217980
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Ventricular septal defect, Epicanthus, ... OMIM:618027
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Short humerus, Short ribs, Talipes equino... OMIM:607143
Weiss-Kruszka Syndrome
Low-set ears, Hearing impairment, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... OMIM:618619
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of the thumb, Broad thumb, Recurrent otitis media, Moderate hearing impairme... ORPHA:370010
Masa Syndrome
Hand clenching, Camptodactyly of finger, Agenesis of corpus callosum, Short stature, Clinodactyly... ORPHA:2466
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Small hand, Lateral ventricle dilatation, Type II lissencephaly, Congenital fibrosi... ORPHA:300570
Beck-Fahrner Syndrome
Periventricular leukomalacia, Joint hypermobility, Protruding ear, Microcephaly, Brachycephaly, P... OMIM:618798
3Q13 Microdeletion Syndrome
Wide nasal bridge, Joint stiffness, Agenesis of corpus callosum, Epicanthus, Abnormality of the h... ORPHA:1621
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Toe syndactyly, Chiari malformation, Cerebral atrophy, Umbilical hernia, Obesity, M... ORPHA:171839
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Hearing impairment, Clinodactyly, Joint hypermobility, Dysplastic corpus callosum, Decreased head... ORPHA:500166
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Mandibular prognathia, Cone-shaped epiphysis, Flat occiput, Abnormality of ... ORPHA:2511
Ritscher-Schinzel Syndrome 1
Low-set ears, Aortic valve stenosis, Hypoplastic left heart, Downslanted palpebral fissures, Tetr... OMIM:220210
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Micrognathia, Agenesis of corpus callosum, Epicanthus, Talip... OMIM:619148
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D... OMIM:604213
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Abnormal mitral valve morphology, Hernia of the abdom... ORPHA:1277
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Hip dislocation, Rhizomelia, Limitation of joint mobility, Abnorm... ORPHA:3098
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Small hand, Toe syndactyly, Growth delay, Hearing impairme... ORPHA:238750
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia, Intrauterine growth retardation, Microcephaly, Hip dysplasia, Short stature... OMIM:619025
Potocki-Lupski Syndrome
Dental malocclusion, Hearing impairment, Failure to thrive, Downslanted palpebral fissures, Oral-... OMIM:610883
Mosaic Trisomy 1
Low-set ears, Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Congen... ORPHA:1692
Foxg1 Syndrome
Abnormal corpus callosum morphology, Bruxism, Hypoplasia of the corpus callosum, Agenesis of corp... ORPHA:561854
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Hearing impairment, Secondary microcephaly, Micrognathia, Limited elb... OMIM:610759
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low-set ears, Broad thumb, Oral aversion, Ventricular septal defect, Bicuspid aortic valve, Atria... ORPHA:329224
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Kleefstra Syndrome
Limitation of joint mobility, Hearing impairment, Agenesis of corpus callosum, Ventricular septal... ORPHA:261494
Adenylosuccinate Lyase Deficiency
Low-set ears, Hypointensity of cerebral white matter on MRI, Microcephaly, Brachycephaly, Short n... ORPHA:46
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:614039
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Wide nasal bridge, Hearing impairment, Hypoplasia of the corpus callosum, Decreased body weight, ... OMIM:300958
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Low-set ears, Hearing impairment, Prominent ear helix, Micrognathia, Hypoplasia of the corpus cal... OMIM:618659
De Barsy Syndrome
Low-set ears, Decreased muscle mass, Postnatal growth retardation, Ventricular septal defect, Epi... ORPHA:2962
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Failure to thrive, Generalized dystonia, Abnormal heart mor... ORPHA:70472
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Broad thumb, Atrioventricular canal defect, Microcephaly, Brachycep... OMIM:617364
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Osteopenia, Abnormality of carpal bone ossification, Failure to thr... OMIM:608154
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Hypoplasia of the maxilla, Broad thumb, Micrognathia, Compulsive behaviors, Agenesi... OMIM:309520
Microcephaly 17, Primary, Autosomal Recessive
Failure to thrive, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:617090
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Atrial septal defect, Fin... OMIM:618870
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Wide nasal bridge, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Short t... OMIM:618821
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Joint hypermobility, Conjunctival hyperemia, Epicanthus, Agenesis of corpus callosu... OMIM:619548
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,... OMIM:300280
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Cerebellar atrophy, Trigonocephaly, Delayed eruption of permanent teeth, Ventricula... OMIM:618506
15Q24 Microdeletion Syndrome
Small hand, Hearing impairment, Clinodactyly, Downslanted palpebral fissures, Abnormal heart morp... ORPHA:94065
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Sandal gap, Intrauterine growth retardation, Long eyelashes, Thic... OMIM:616938
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Cerebellar atrophy, Periventricular leukomalacia, Agenesis of corpus callosum, Joi... OMIM:618324
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, EEG with focal slow activity, Abnormal basal... ORPHA:101029
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b... OMIM:101200
2Q32Q33 Microdeletion Syndrome
Low-set ears, Toe clinodactyly, Broad thumb, Downslanted palpebral fissures, Micrognathia, Joint ... ORPHA:251019
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Cerebrofacioarticular Syndrome
Caudal appendage, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, E... ORPHA:314679
Potocki-Shaffer Syndrome
Wide nasal bridge, Sparse lateral eyebrow, Parietal foramina, Downslanted palpebral fissures, Tel... OMIM:601224
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Low-set ears, Optic atrophy, Cerebellar atrophy, Retrognathia, Cerebral atro... OMIM:620428
Chromosome 20Q11-Q12 Deletion Syndrome
Hearing impairment, Finger clinodactyly, Intrauterine growth retardation, Tarsal osteovalgus, Bra... OMIM:614257
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Micrognathia... OMIM:213980
Thoracolaryngopelvic Dysplasia
Slender build, Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S... OMIM:187760
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Toe syndactyly, Postnatal growth retardation, Micrognathia, Sensorineural hearing i... OMIM:609625
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Plagiocephaly, Clinodactyly, Long eyelashes, Micrognathia, Unilambdoid synosto... OMIM:618577
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Sensorineural hearing impairment, Weakness of facia... OMIM:617519
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Absent thumb, Short 1st metacarpal, Short thumb, Chiari malformati... OMIM:609053
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Failure to thrive, Short 4th toe, Short humerus, Brachydactyly, Short lower... ORPHA:420794
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Brachydactyly, Type A1
Distal symphalangism of hands, Flattened metatarsal heads, Radial deviation of the 2nd finger, Sh... OMIM:112500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve... OMIM:600987
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Optic atrophy, Hearing impairment, Thickened calvaria, Brachycephaly, Macrocephaly, Cr... ORPHA:178377
Kury-Isidor Syndrome
Low-set ears, Growth delay, Finger syndactyly, Downslanted palpebral fissures, Recurrent otitis m... OMIM:619762
Gómez-López-Hernández Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Telecanthus, Abnormal cerebellum morphology, Turricep... ORPHA:1532
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Micr... OMIM:608776
11Q22.2Q22.3 Microdeletion Syndrome
Low-set ears, Small hand, Obesity, Thick eyebrow, Micrognathia, Bilateral single transverse palma... ORPHA:444002
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Hypoplasia of ... OMIM:617201
Frank-Ter Haar Syndrome
Low-set ears, Micrognathia, Hypoplasia of the corpus callosum, Mitral valve prolapse, Ventricular... OMIM:249420
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Hearing impairment, Hand tremor, Agenesis of corpus callosum, Aplasia/... ORPHA:401830
Diastrophic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Hypoplastic cervical verteb... ORPHA:628
Kabuki Syndrome 2
Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Postnatal growth retardati... OMIM:300867
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Low-set ears, Wide nasal bridge, Trigonocephaly, Inguinal hernia, Ve... OMIM:314320
3C Syndrome
Low-set ears, Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Micrognathi... ORPHA:7
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Upslanted palpebral fissure, Microcephaly, Brachycephaly, Epicanthus, Short stature... ORPHA:2528
Contractural Arachnodactyly, Congenital
Crumpled ear, Micrognathia, Hip contracture, Mitral valve prolapse, Ventricular septal defect, Bi... OMIM:121050
17Q23.1Q23.2 Microdeletion Syndrome
Shallow acetabular fossae, Limitation of joint mobility, Hearing impairment, Bilateral single tra... ORPHA:261279
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Limb tremor, Aplasia/Hypoplasia of the ce... ORPHA:401820
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Micrognat... ORPHA:2097
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Self-injurious behavior, Broad thumb, Downslanted palpebral fissures, Abnormal... OMIM:300978
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Aortic valve stenosis, Cerebral calcification, Micrognathia, Epicanthus, Flat occip... ORPHA:2780
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Small hand, Lateral ventricle dilatation, Mitral valve prolapse, Sparse eyelashes, ... OMIM:612863
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Failure to thrive, Intrauterine growth retardation, Agenesis of corpus callosum, C... OMIM:618238
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Failure to thrive, Tetralogy of Fallot, Hypoplasia of the ... OMIM:612946
20Q11.2 Microdeletion Syndrome
Hearing impairment, Finger clinodactyly, Intrauterine growth retardation, Brachydactyly, Adducted... ORPHA:444051
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Low-set ears, Wide nasal bridge, Short palpebral fissure, Growth delay, Hearing impairment, Clino... OMIM:613604
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Single transverse palmar crease, Ptosis, Sagittal cran... OMIM:615314
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Joubert Syndrome 10
Low-set ears, Cerebellar vermis hypoplasia, Wide nasal bridge, Postaxial foot polydactyly, Conduc... OMIM:300804
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Failure to thrive, Cerebel... OMIM:618276
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Severe fa... ORPHA:468631
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Bilateral ptosis, Downslanted palpebral fissures, Inappropriate laught... OMIM:618859
Christianson Syndrome
Cerebral cortical atrophy, Mandibular prognathia, Cerebellar atrophy, Decreased muscle mass, Apla... ORPHA:85278
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:611603
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Polymicrogyria, Situs inversus totalis, Agenesis of corpus callosum, Dysplast... OMIM:614833
Lessel-Kreienkamp Syndrome
Hypoplastic helices, Wide nasal bridge, Plagiocephaly, Dental malocclusion, Hearing impairment, S... OMIM:619149
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Radioulnar synostosis, Short nose, Syndactyly, Tetralogy of Fallot, Brachydactyly, ... OMIM:614701
Tetrasomy X
Upslanted palpebral fissure, Joint hypermobility, Epicanthus, Radioulnar synostosis, Brachydactyl... ORPHA:9
Sandestig-Stefanova Syndrome
Low-set ears, Clinodactyly, Underdeveloped tragus, Bilateral single transverse palmar creases, Hy... OMIM:618804
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Clinodactyly of the 3rd toe, Oligodactyly, Intrauterine growth retardation, Al... ORPHA:521308
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Optic atrophy, Small hand, Plagiocephaly, Conductive hearing impairment, Prominent ... OMIM:618672
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Skeletal muscle atrophy, Hypoplasia of the pons, Hypoplasia of the corpu... OMIM:617695
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Optic atrophy, Wide nasal bridge, Epicanthus, Brachycephaly, Dysphagia, Bilateral s... OMIM:264470
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Hearing impairment, Agenesis of corpus callosum, Short nose, Flat occiput,... ORPHA:96147
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Narrow palm, Dysphagia, Motor stereotypy, Macrotia, Hip dislocation,... OMIM:619435
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Chiari malformation, Hypoplasia of the pons, Overfriendliness, Sparse eyelashes, Ep... OMIM:619293
Cebalid Syndrome
Low-set ears, Highly arched eyebrow, Plagiocephaly, Platystencephaly, Hearing impairment, Downsla... OMIM:618774
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydactyly, ... ORPHA:404440
Tetralogy Of Fallot
Tetralogy of Fallot, Intrauterine growth retardation, Clinodactyly of the 5th finger, Brachydacty... ORPHA:3303
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Broad thumb, Agenesis of corpus callosum, Sensorineural hearing impairment, Epica... ORPHA:250989
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Recurrent otitis media, Telecanthus, Upslanted palpebral fissure, Agenesis of ... OMIM:615286
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth r... OMIM:615095
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Failure to thrive, Flared met... OMIM:309350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Lateral ventricle dilatation, Recurrent otitis media, Dextrotransposition of t... OMIM:619995
Coffin-Siris Syndrome
Hearing impairment, Clinodactyly, Aspiration pneumonia, Postnatal growth retardation, Oral aversi... ORPHA:1465
Thanatophoric Dysplasia
Low-set ears, Abnormal ilium morphology, Disproportionate short-limb short stature, Hearing impai... ORPHA:2655
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Secondary microcephaly, Postnatal growth retardation, Micrognathia, Polyphagia, Sho... OMIM:156200
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... OMIM:177170
Martsolf Syndrome 1
Low-set ears, Micrognathia, Epicanthus, Talipes equinovarus, Broad fingertip, Finger joint hyperm... OMIM:212720
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Postnatal growth retardation, Micrognathia, Agenesis of corpus callosum, Epicanthus... OMIM:257300
Acrodysostosis
Hearing impairment, Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abnorma... ORPHA:950
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Highly arched eyebrow, Prominent antihelix, Secundum atrial septal ... OMIM:615802
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Broad thumb, Camptodactyly of finger, Type B brachydactyly, Short... ORPHA:1471
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Congenital hip dislocation, Small for gestational age, Contractures of the large j... ORPHA:3078
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Cerebral cortical atrophy, Downslanted palpebral fissures, Intrauterine growth reta... ORPHA:166035
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Enlarged metaphyses, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Mi... OMIM:245600
Noonan Syndrome 13
Low-set ears, Clinodactyly, Recurrent otitis media, Overlapping toe, Micrognathia, Mitral valve p... OMIM:619087
Snijders Blok-Campeau Syndrome
Low-set ears, Wide nasal bridge, Umbilical hernia, Inguinal hernia, Joint hypermobility, Taurodon... OMIM:618205
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular s... OMIM:218350
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Hypoplasia of the corpus callosum, Mitra... OMIM:618371
Sotos Syndrome
Low-set ears, Long metacarpals, Genu valgum, Ventricular septal defect, Increased body weight, Lo... OMIM:117550
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Finger syndactyly, ... OMIM:200990
2P15P16.1 Microdeletion Syndrome
Low-set ears, Hearing impairment, Bilateral single transverse palmar creases, Epicanthus, Blephar... ORPHA:261349
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Growth delay, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Atria... ORPHA:52056
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Slender finger, Eczematoid dermatitis, Ventricular septal defect, Short hallux... OMIM:620393
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Epicanthus, Carpal... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Posterior rib cupping, Micromelia, Irregular epiphyses, Thoracic hypoplasia, S... OMIM:608728
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Microce... OMIM:211369
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Broad thumb, Hearing impairment, Hypoplasia of the corpus callosum, Agenesis of cor... ORPHA:481152
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Hand tremor, Recurrent hand flapping, Hypoplasia o... OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Hearing impairment, Ventricu... OMIM:300998
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Short nose, Micrognathia, Delayed patellar ossificatio... ORPHA:163649
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Cog7-Cdg
Cerebellar atrophy, Retrognathia, Failure to thrive, Abnormal heart morphology, Postnatal growth ... ORPHA:79333
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Frontal bossing, Camptodac... ORPHA:1488
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Hypoplasia of the corpus callosum, Short foot, Abnormal pinna morphology, Polymicrogy... OMIM:300354
Familial Digital Arthropathy-Brachydactyly
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... ORPHA:85169
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Highly arched eyebrow, Hearing impairment, Downslanted palpebral fissure... OMIM:618828
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Lateral ventricle dilatation, Finger syndactyly, Clinodactyly, Overlapping toe, Ove... ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 65
Low-set ears, Wide nasal bridge, Thin eyebrow, Micrognathia, Upslanted palpebral fissure, Single ... OMIM:619320
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Sandal gap, Micromelia, Downslanted palpebral fissures, Low-set,... ORPHA:1035
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Marshall-Smith Syndrome
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Aspiration pneumonia, ... OMIM:602535
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal defect, Atrial sep... OMIM:620663
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Hypsarrh... OMIM:618959
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Downslanted palpebral fissures, Post... ORPHA:480907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, C... OMIM:613153
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Lateral ventricle dilatation, Sandal gap, Umbilical hernia, ... OMIM:618914
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Postaxial hand pol... OMIM:181450
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Self-injurious behavior, Skull asymmetry, Downslanted... OMIM:601853
Brunet-Wagner Neurodevelopmental Syndrome
Wide nasal bridge, Optic atrophy, Self-injurious behavior, Cerebellar atrophy, Increased skull os... OMIM:619690
Fetal Akinesia Syndrome, X-Linked
Telecanthus, Agenesis of corpus callosum, Blepharophimosis, Narrow palpebral fissure, Stillbirth OMIM:300073
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Agenesis of corpus callosum, Pachygyria, Agyria, Lissencephaly OMIM:300067
Heart Defects-Limb Shortening Syndrome
Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal metaphysis morphology, Abnormal rib ... ORPHA:1354
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Conductive hearing impairment, Increased skull ossification, Cerebral atrophy, Agenesi... ORPHA:85179
White Forelock With Malformations
Atrial septal defect OMIM:277740
Hamamy Syndrome
Low-set ears, Micrognathia, Sparse eyelashes, Sensorineural hearing impairment, Blepharophimosis,... OMIM:611174
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Highly arched eyebrow, Toe syndactyly, Sparse lateral eyebrow, Low-set, posteri... ORPHA:261120
Stevenson-Carey Syndrome
Low-set ears, Joint contracture of the hand, Downslanted palpebral fissures, Hypoplasia of the co... OMIM:611961
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,... ORPHA:1275
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Lateral ventricle dilatation, Ventricular septal defect, Bicuspid aortic valve, Atr... ORPHA:457279
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Cerebral cortical atrophy, Failure to thrive, Muscle fiber atrophy, Micrognathia, Microcephaly, B... OMIM:620240
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Cerebellar atrophy, Hypoplasia of ... ORPHA:300573
Greenberg Dysplasia
Fractured rib, Ectopic ossification, Costal cartilage calcification, Stillbirth, Supernumerary ve... OMIM:215140
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Thoracic ... ORPHA:56305
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy OMIM:616866
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Hy... OMIM:274270
Distal Duplication 5Q
Low-set ears, Carious teeth, Absent thumb, Eczematoid dermatitis, Downslanted palpebral fissures,... ORPHA:96097
Mosaic Variegated Aneuploidy Syndrome 2
Low-set ears, Hearing impairment, Clinodactyly, Micrognathia, Ventricular septal defect, Epicanth... OMIM:614114
Imagawa-Matsumoto Syndrome
Clinodactyly, Polymicrogyria, Downslanted palpebral fissures, Umbilical hernia, Agenesis of corpu... OMIM:618786
Leri-Weill Dyschondrosteosis
Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing... OMIM:127300
Craniosynostosis 6
Plagiocephaly, Cerebellar atrophy, Parietal foramina, Right unilambdoid synostosis, Lateral ventr... OMIM:616602
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Intrauterine growth retardation, Large placenta, Joint hypermobility, Wrist fle... ORPHA:254528
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Brachydactyly, Hearing impairment, Metacarpal synostosis ORPHA:35099
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Low-set ears, Enlarged metaphyses, Lateral ventricle dilatation,... OMIM:210710
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Epicanthus, Short stature, Osteol... ORPHA:88630
Desmosterolosis
Low-set ears, Abnormal earlobe morphology, Micrognathia, Agenesis of corpus callosum, Epicanthus,... ORPHA:35107
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Sho... OMIM:614524
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Persistence of primary teeth, Obesity, Conotruncal defect, Upsla... OMIM:610253
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Downslanted palpebral fissures, Abnormal heart morphology, Limite... ORPHA:401935
Thiemann Disease, Familial Form
Abnormal epiphysis morphology, Limitation of joint mobility, Brachydactyly, Abnormal metaphysis m... ORPHA:3314
Filippi Syndrome
Wide nasal bridge, Optic atrophy, Severe short stature, Limitation of joint mobility, Finger synd... ORPHA:3255
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Cerebral cortical atrophy, Single transverse palmar crease, Hypoplasia o... OMIM:617820
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Cerebellar vermis hypoplasia, Optic atrophy, Plagiocephaly, Wide nasal bridge, Hype... OMIM:619383
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening... OMIM:300863
Chromosome 14Q11-Q22 Deletion Syndrome
Low-set ears, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... OMIM:613457
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Downslanted ... ORPHA:2863
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Bulging of the co... OMIM:600081
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Wide nasal bridge, Broad distal phalanx of finger, Sandal gap, Downslanted palpebra... OMIM:615761
Autosomal Recessive Cutis Laxa Type 2A
Hearing impairment, Secondary microcephaly, Postnatal growth retardation, Abnormal cerebellar ver... ORPHA:357058
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve... ORPHA:371428
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis, Calf muscle hypertrophy, Agenesis of corpus callosum OMIM:618197
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Low-set ears, Sparse eyebrow, Mandibular prognathia, Hearing impairment, Downslanted palpebral fi... OMIM:619989
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Cerebellar vermis hypoplasia, Hearing impairment, Cerebral atrophy, Polymicrogyria,... OMIM:618494
Lissencephaly 7 With Cerebellar Hypoplasia
Hand clenching, EEG with burst suppression, Micrognathia, Agenesis of corpus callosum, Cerebellar... OMIM:616342
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum, Primary microcephaly, Polymicrogyria ORPHA:171703
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal... OMIM:601808
Wolf-Hirschhorn Syndrome
Hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, H... ORPHA:280
Rubinstein-Taybi Syndrome 1
Low-set ears, Broad thumb, Hearing impairment, Hypoplastic iliac wing, Postnatal growth retardati... OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Low-set ears, Aplasia/Hypoplasia of the earlobes, Hypoplastic iliac wing, Hypoplasia of the corpu... ORPHA:2637
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Short distal phalanx of finger, Joint hypermobility, Microcephaly, Brachydactyly, ... ORPHA:2787
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Tremor, Dysplastic corpus callosum, Cerebral white matter a... ORPHA:599373
Frank-Ter Haar Syndrome
Wide nasal bridge, Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Dow... ORPHA:137834
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Posterior plagiocephaly, Ventricular septal defect, Hair-pulling, Epicanthus, Polyphagia, Narrow ... OMIM:620330
Li-Ghorbani-Weisz-Hubshman Syndrome
Low-set ears, Telecanthus, Overlapping toe, Upslanted palpebral fissure, Hypoplasia of the corpus... OMIM:618974
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Wide nasal bridge, Macroglossia, Short palpebral fissure, Retrocerebellar cyst, Hypoplasia of the... ORPHA:397709
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Congenital ... ORPHA:96121
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Carious teeth, Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal ... OMIM:244450
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Retrognathia, Inflexible adherence to routines, Downslanted palpebral fi... OMIM:613670
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Atresia of the external auditory canal, Secondary microcephaly, Abno... ORPHA:79113
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, 2-3 toe cutaneous syndactyly, Wide nasal bridge, Bruxism, Upslanted palpebral fissu... OMIM:300260
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Genu valgum, Limited elbow extension... OMIM:304150
Smith-Magenis syndrome
Self-mutilation, Brachydactyly, Hyperactivity, Short stature, Motor stereotypy DECIPHER:8
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachyceph... ORPHA:320385
Codas Syndrome
Congenital hip dislocation, Crumpled ear, Abnormal pelvic girdle bone morphology, Abnormal epiphy... ORPHA:1458
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Chiari malformation, Tur... ORPHA:93262
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Micrognathia, Ventricular septal ... ORPHA:79328
Hypophosphatasia
Narrow chest, Failure to thrive in infancy, Bowing of the long bones, Abnormal rib morphology, Cr... ORPHA:436
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Cerebellar atrophy, Sparse lateral eyebrow, Focal polymicrogyria, Downslanted palpe... OMIM:619103
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation... ORPHA:1453
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Short palpebral fissure, Prominent fingertip pads, Failure to thrive, Se... OMIM:300986
Chopra-Amiel-Gordon Syndrome
Postnatal growth retardation, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Joint... OMIM:619504
Chromosome 3Q13.31 Deletion Syndrome
Low-set ears, Plagiocephaly, Downslanted palpebral fissures, Agenesis of corpus callosum, Epicant... OMIM:615433
Chromosome 15Q13.3 Deletion Syndrome
Abnormality of the palpebral fissures, Brachydactyly, Clinodactyly of the 5th finger, Abnormal pi... OMIM:612001
Emanuel Syndrome
Low-set ears, Aortic valve stenosis, Hearing impairment, Recurrent otitis media, Micrognathia, Co... OMIM:609029
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Macrotia, Reduced bone mineral density, Inguinal hernia, Decreased body weigh... OMIM:618392
Aymé-Gripp Syndrome
Low-set ears, Limitation of joint mobility, Reduced arm span, Postnatal growth retardation, Conge... ORPHA:1272
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Sandal gap, Intrauterine growth retardation, Ventricular septal defect, M... ORPHA:2515
Chilton-Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Posterior plagiocephaly, Recurrent otitis media, Micrognathia, Agenesis of corpus c... OMIM:619841
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Intrauterine growth retardation, Abnormality of the wrist, Radioulna... ORPHA:2319
Loeys-Dietz Syndrome 5
Decreased muscle mass, Reduced subcutaneous adipose tissue, Ventricular septal defect, Arachnodac... OMIM:615582
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Abnormal antihelix ... ORPHA:2145
16P13.11 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Atresia of the external auditory canal, Downslanted palpeb... ORPHA:261236
Nicolaides-Baraitser Syndrome
Severe short stature, Highly arched eyebrow, Short palpebral fissure, Clubbing of toes, Broad dis... ORPHA:3051
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Sandal gap, Microcephaly, Brachycephaly, Polyphag... ORPHA:228402
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Hearing impairment, Mesoaxial hand polydactyl... OMIM:615996
Osebold-Remondini Syndrome
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... OMIM:112910
Trichohepatoneurodevelopmental Syndrome
Low-set ears, Recurrent otitis media, Overlapping toe, Fibular bowing, Ventricular septal defect,... OMIM:618268
Intellectual Developmental Disorder, Autosomal Recessive 74
Wide nasal bridge, EEG with polyspike wave complexes, Brachydactyly, Hyperactivity, Macrocephaly,... OMIM:617169
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intrauterine growth retardation, Micrognathia, Tibial bowing, Lower limb undergrow... ORPHA:3035
3Mc Syndrome 1
Lambdoidal craniosynostosis, Caudal appendage, Hearing impairment, Postnatal growth retardation, ... OMIM:257920
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal periventricular white matter morphology, ... ORPHA:280763
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Periventricular white matter hyperintensities, Tremor, ... OMIM:619470
Mend Syndrome
Low-set ears, Aortic valve stenosis, Overlapping toe, Overlapping fingers, Micrognathia, Hypoplas... ORPHA:401973
Rubinstein-Taybi Syndrome
Low-set ears, Broad thumb, Carious teeth, Hearing impairment, Finger syndactyly, Micrognathia, Ep... ORPHA:783
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Telecanthus, Agenesis of corpus c... OMIM:109120
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Leukoencephalopathy, Failure to thrive, Intrauterine growth retardation, Tremor, Bicuspid aortic ... OMIM:617744
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Cerebellar vermis hypoplasia, Secundum atrial septal defect, Failur... OMIM:620242
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Highly arched eyebrow, Copper beaten skull, Hearing impairment, Downslanted pa... OMIM:619451
Alopecia-Intellectual Disability Syndrome
Growth delay, Hearing impairment, Microcephaly, Short corpus callosum, EEG abnormality, Brachydac... ORPHA:2850
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Failure to thrive, Large earlobe, Intrauterine growth retardation, Decreased body ... OMIM:618346
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Skeletal muscle atrophy, Hypoplasia of the corpus callosum, Dysplastic corpus call... OMIM:613162
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... ORPHA:1506
Microhydranencephaly
Hydranencephaly, Skeletal muscle atrophy, Growth delay, Hypoplasia of the brainstem, Multiple joi... OMIM:605013
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win... OMIM:609945
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Plagiocephaly, Microretrognathia, Growth delay, Low-set, posteriorly rotated ears,... ORPHA:457193
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Clubbing of toes, Downslanted palpebral fissures, Recurrent otitis media, Tetr... ORPHA:3304
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Wide nasal bridge, Small hand, Clinodactyly, Thick eyebrow, Upslanted palpebral fissure, Perianal... OMIM:614684
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Hearing impairment, Micrognathia, 2-5 finger cutaneous syndactyly, Up... OMIM:617746
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Wide nasal bridge, Cerebral hypoplasia, Cerebellar atrophy, Aplasia/Hypoplasia of t... ORPHA:168486
Schaaf-Yang Syndrome
Low-set ears, Small hand, Arthrogryposis multiplex congenita, Clinodactyly, Narrow palm, Polyphag... OMIM:615547
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact... OMIM:112700
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Recurre... OMIM:166210
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Optic atrophy, Decreased muscle mass, Polymicrogyria, Secondary microc... OMIM:614222
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Abnormal mitral valve morph... ORPHA:192
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Skeletal muscle atrophy, Failure to thrive, Inguinal hernia, Hypoplasia of the cor... OMIM:618603
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia of the pons, Downsl... OMIM:617523
Marden-Walker Syndrome
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Micrognathia, Agenesis of co... ORPHA:2461
Pyruvate Dehydrogenase E1-Alpha Deficiency
Wide nasal bridge, Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Tremor, Mi... OMIM:312170
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Donnai-Barrow Syndrome
Low-set ears, Hearing impairment, Downslanted palpebral fissures, Aplasia/Hypoplasia of the corpu... OMIM:222448
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Hearing impairment, Overlapping toe, Micrognathia, Hypoplasia of the corpus callosum... ORPHA:508498
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Cerebellar vermis hypoplasia, Optic atrophy, Hearing impairment, Low-set... ORPHA:494344
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal amyotrophy... OMIM:601382
Terminal Osseous Dysplasia
Low-set ears, Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg s... OMIM:300244
20P13 Microdeletion Syndrome
Low-set ears, Highly arched eyebrow, Hypoplastic helices, Finger syndactyly, Clinodactyly, Downsl... ORPHA:313781
Intellectual Developmental Disorder, Autosomal Dominant 53
Posterior plagiocephaly, Growth delay, Downslanted palpebral fissures, Genu valgum, Joint hypermo... OMIM:617798
Zechi-Ceide Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Short palpebral fissure, Abnormal helix morphology, C... ORPHA:217017
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Flat occiput, Hypoplasia of the pons, Lateral ventricle dilatation, ... OMIM:618736
X-Linked Intellectual Disability, Sutherland-Haan Type