Gene: Nipbl MGI:1913976

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Nipbl (2 diseases)
Human diseases predicted to be associated with Nipbl (2289 diseases)

The table below shows human diseases associated to Nipbl by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cornelia De Lange Syndrome		Delayed puberty, Oligodactyly, Hip dislocation, Hip dysplasia, Ventricular septal defect, Atrial ...	ORPHA:199
Cornelia De Lange Syndrome 1		Inguinal hernia, Ventricular septal defect, Hypoplastic radial head, Proximal placement of thumb,...	OMIM:122470

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

Disease	Matching phenotypes	Source
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling	OMIM:600121
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ...	ORPHA:2019
Acromesomelic Dysplasia 2A	Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Acromesomelia, A...	OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo...	OMIM:619598
Acrocapitofemoral Dysplasia	Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ...	OMIM:607778
Angioosteohypotrophic Syndrome	Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li...	ORPHA:75508
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Rhizomelia, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara,...	OMIM:601438
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal sc...	ORPHA:2141
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Anterior verte...	OMIM:171480
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Metaphyseal cupping, Irregular capital femoral epiphysis, Short femoral neck, Meta...	OMIM:616716
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Brachydactyly, Type C	Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ...	OMIM:113100
Holt-Oram Syndrome	Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Pectus excava...	OMIM:142900
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Protruding ear, Atrial septal defect, Ventricular septal defect, Hearing impairment, Broad thumb,...	OMIM:617452
Cornelia De Lange Syndrome 2	Long eyelashes, Brachycephaly, Proximal placement of thumb, Synophrys, Downslanted palpebral fiss...	OMIM:300590
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Trigonocephaly, Atrioventricular canal defect, EEG abnormality, Upslanted palpebral f...	OMIM:613792
Kyphomelic Dysplasia	Short humerus, Dumbbell-shaped humerus, Thoracic hypoplasia, Lateral clavicle hook, Flat acetabul...	OMIM:211350
Spondylometaphyseal Dysplasia, Type A4	Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, M...	OMIM:609052
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Epicanthus, Atrial septal defect, Narrow palm, Upslanted palpebral fissure, Abno...	ORPHA:352490
Greig Cephalopolysyndactyly Syndrome	Macrocephaly, Inguinal hernia, Trigonocephaly, 1-3 toe syndactyly, Abnormal heart morphology, Pre...	OMIM:175700
Multiple Synostoses Syndrome 1	Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver...	OMIM:186500
Al Kaissi Syndrome	Epicanthus, Atrial septal defect, Microcephaly, Hypoplasia of the corpus callosum, Torticollis, B...	OMIM:617694
Catel-Manzke Syndrome	Chronic otitis media, Camptodactyly of finger, Low-set, posteriorly rotated ears, Joint stiffness...	ORPHA:1388
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect, Hearing impairment, Toe syndactyly, Broad thumb,...	ORPHA:505237
Rhizomelic Dysplasia, Patterson-Lowry Type	Deviation of finger, Short humerus, Rhizomelia, Short metacarpal, Deformed humeral heads, Brachyd...	ORPHA:2831
Acheiropodia	Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A...	ORPHA:931
Acheiropody	Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m...	OMIM:200500
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Inguinal hernia, Low-set ears, Brachycephaly, Epicanthus, Umbilical he...	OMIM:615834
Microcephaly 16, Primary, Autosomal Recessive	Primary microcephaly, Decreased body weight, Simplified gyral pattern, Knee flexion contracture, ...	OMIM:616681
Lissencephaly Syndrome, Norman-Roberts Type	Abnormal calvaria morphology, 4-layered lissencephaly, Primary microcephaly, Low-set ears, Atrial...	ORPHA:89844
Gombo Syndrome	Delayed puberty, Abnormal heart morphology, Microcephaly, Radial deviation of finger, Clinodactyl...	OMIM:233270
Metaphyseal Chondrodysplasia, Schmid Type	Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr...	ORPHA:174
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Intrauterine growth retardation, Rocker bottom foot, Microcephaly, Cerebellar hypop...	OMIM:616570
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Joint stiffness, Lateral clavicle hook, Short thorax, Missing rib...	ORPHA:1801
Aminopterin Syndrome Sine Aminopterin	Macrocephaly, Inguinal hernia, Short thumb, Highly arched eyebrow, Microcephaly, Joint contractur...	OMIM:600325
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Abnormality of the wrist, Abnormality of the elbow, Micromelia, Postaxial hand pol...	ORPHA:2491
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, EEG with generalized sharp slow waves, Microcephaly, Single transverse...	ORPHA:79243
Corpus Callosum, Agenesis Of	Macrocephaly, Camptodactyly, Microcephaly, Growth delay, Frontal bossing, Agenesis of corpus call...	OMIM:217990
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Low-set ears, Retrognathia, Brachycephaly, Bilateral talipes equinovarus, Ventricular septal defe...	OMIM:618142
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Short humerus, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic scapulae, Flared ...	OMIM:602471
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Short stature, Cutaneous syndactyly, Delay...	ORPHA:166024
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Macrocephaly, Hypoplastic left heart, Atrial septal defect, Hearing impairment, Broad thumb, Doli...	OMIM:619721
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cloverleaf skull, Low-set ears, Platybasia, Abnormal metaphysis morphology, Ventricular septal de...	ORPHA:93267
Pierpont Syndrome	Hearing impairment, Short toe, Microcephaly, Unilateral narrow palpebral fissure, Blepharophimosi...	OMIM:602342
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Low-set ears, Intrauterine growth retardation, Short stature, Failure ...	OMIM:612626
Atelosteogenesis, Type I	Clubbing, Long clavicles, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in epip...	OMIM:108720
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Hip dysplasia, Ventricular septal defect, Upslanted palpebral fissure, Short palpebral fissure, B...	OMIM:620073
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Congenital fibrosis of extraocular muscles, Polymicrogyria, Partial agenesis of the corpus callos...	OMIM:610031
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short metacarpal, Synostosis of c...	ORPHA:93351
Carpenter Syndrome 1	Epicanthus, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Preaxial foot p...	OMIM:201000
Eng-Strom Syndrome	Camptodactyly of finger, Ventricular septal defect, Intrauterine growth retardation, Short statur...	ORPHA:1937
Microcephaly 5, Primary, Autosomal Recessive	Flat occiput, Simplified gyral pattern, Short stature, Hearing impairment, Highly arched eyebrow,...	OMIM:608716
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Fetal Trimethadione Syndrome	Low-set ears, Epicanthus, Brachycephaly, Ventricular septal defect, Tetralogy of Fallot, Atrial s...	ORPHA:1913
Metatropic Dysplasia	Relatively short spine, Flared iliac wing, Halberd-shaped pelvis, Metaphyseal irregularity, Hyper...	OMIM:156530
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Epicanthus, Atrial septal defect, Trigonocephaly, Sparse eyebrow, Scaphocephaly,...	ORPHA:459061
Warburg Micro Syndrome 1	Low-set ears, Cerebral atrophy, Overlapping toe, Osteoporosis, Perisylvian polymicrogyria, Short ...	OMIM:600118
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Brachycephaly, Tetralogy of Fallot, Ventricular se...	ORPHA:3306
Pierpont Syndrome	Short finger, Abnormal cortical gyration, Small for gestational age, Uplifted earlobe, Primary mi...	ORPHA:487825
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr...	ORPHA:2878
Even-Plus Syndrome	Epiphyseal dysplasia, Atopic dermatitis, Severe short stature, Brachycephaly, Atrial septal defec...	OMIM:616854
6Q25 Microdeletion Syndrome	Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Epicanthus, Abnormal p...	ORPHA:251056
Camptodactyly Syndrome, Guadalajara Type 1	Abnormality of dental eruption, Camptodactyly of finger, Short distal phalanx of finger, Epicanth...	ORPHA:1327
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Low-set, posteriorly rotated ears, Hip dysplasia, Abnormal metaphys...	ORPHA:2370
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Long fingers, Brachycephaly, Facial diplegia, Short nose, Decreased motor nerve conduction veloci...	OMIM:218000
Recombinant Chromosome 8 Syndrome	Camptodactyly, Low-set ears, Cerebral atrophy, Pulmonic stenosis, Ventricular septal defect, Tetr...	OMIM:179613
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Ventricular septal defect, EEG abnormality, Abnormality of the hand, Abnormal heart m...	ORPHA:369891
Heart-Hand Syndrome Type 2	Abnormality of the humerus, Hand polydactyly, Joint stiffness, Hemiatrophy, Aplasia/Hypoplasia of...	ORPHA:1350
Intellectual Developmental Disorder, Autosomal Dominant 48	Macrocephaly, Ventricular septal defect, Highly arched eyebrow, Microcephaly, Cerebellar hypoplas...	OMIM:617751
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Atrial septal defect, Short nose, Posteriorly rotated ears, Optic disc pallo...	OMIM:300887
Craniofrontonasal Dysplasia	Craniosynostosis, Plagiocephaly, Camptodactyly of finger, Congenital pseudoarthrosis of the clavi...	ORPHA:1520
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Telecanthus, Camptodactyly, Inguinal hernia, Cerebral atrophy, Brachycephaly, Protruding ear, Bil...	OMIM:615539
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Macrocephaly, Postaxial foot polydactyly, Broad hallux phalanx, Umbilical herni...	ORPHA:380
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Short toe, Microcephaly, Single transver...	OMIM:616651
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Multiple prenatal fractures, Microcephaly, Cerebellar hypoplasia, Hype...	OMIM:616897
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Joint stiffness, Bowing of the long bones, Abnormal epiphysis mor...	ORPHA:1040
Ventriculomegaly And Arthrogryposis	Ulnar deviation of the wrist, Cerebellar hypoplasia, Micrognathia, Hand clenching, Arthrogryposis...	OMIM:619501
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Epicanthus, Brachycephaly, Abnormal pinna morphology, Synophrys, Tapered finger, Clinodactyly of ...	ORPHA:352530
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Abnorma...	ORPHA:2790
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Macrocephaly, Abnormal size of the palpebral fissures, Ventricular septal defect, Abnormal heart ...	ORPHA:500159
Roifman Syndrome	Noncompaction cardiomyopathy, Hippocampal atrophy, Delayed proximal femoral epiphyseal ossificati...	ORPHA:353298
Symphalangism With Multiple Anomalies Of Hands And Feet	Macrocephaly, Finger symphalangism, Symphalangism affecting the phalanges of the toes, Symphalang...	ORPHA:3246
Congenital Myopathy 13	Low-set ears, Conductive hearing impairment, Brachycephaly, Bilateral talipes equinovarus, Downsl...	OMIM:255995
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Osteopenia, Failure to thrive, Epiphyseal stippling, Micrognathia, Fle...	OMIM:222765
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Brachycephaly, Short nose, Downslanted palpebral fissures, Sho...	ORPHA:1695
Frontonasal Dysplasia 1	Camptodactyly, Pericallosal lipoma, Conductive hearing impairment, Low-set ears, Epicanthus, Tetr...	OMIM:136760
Lissencephaly 4	Colpocephaly, Primary microcephaly, Simplified gyral pattern, Short stature, Growth delay, Cerebe...	OMIM:614019
Congenital Disorder Of Glycosylation, Type Iiy	Reduced bone mineral density, Thin corpus callosum, Brachycephaly, Microcephaly, Hip subluxation,...	OMIM:620200
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Narrow greater sciatic notch, Retrognathia, Brachycephaly, Epicanthus, Metaphyseal ...	OMIM:263210
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Camptodactyly of finger, Plagiocephaly, Brachycephaly, Myopathy, Muscular ...	ORPHA:272
Baraitser-Winter Syndrome 1	Epicanthus, Trigonocephaly, Highly arched eyebrow, Microcephaly, Lissencephaly, Overfolded helix,...	OMIM:243310
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Increased bone mineral density, Lateral femoral bowing, Osteoporosis, Ankylosis, O...	OMIM:239000
8Q12 Microduplication Syndrome	Telecanthus, Abnormal cranial nerve morphology, Epicanthus, Brachycephaly, Atrial septal defect, ...	ORPHA:228399
Muenke Syndrome	Macrocephaly, Hearing impairment, Broad thumb, Cone-shaped epiphyses of the phalanges of the hand...	OMIM:602849
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Low-set ears, Epicanthus, Cerebral atrophy, Global brain atrophy, Brachycephaly, F...	OMIM:616801
Arthrogryposis, Distal, Type 2A	Inguinal hernia, Hip dislocation, Epicanthus, Flexion contracture of finger, Rocker bottom foot, ...	OMIM:193700
Chromosome 2P16.1-P15 Deletion Syndrome	Epicanthus, Calcaneovalgus deformity, EEG abnormality, Optic nerve hypoplasia, Hearing impairment...	OMIM:612513
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Narrow palpebral fissure, Brachycephaly, Short fourth metatarsal, Short met...	OMIM:600430
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu...	OMIM:617405
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Inguinal hernia, Multiple suture craniosynostosis, Low-set, posteriorl...	ORPHA:3369
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Epicanthus, Atrial septal defect, Ventricular septal defect, Thick eyebrow, Upslanted palpebral f...	OMIM:617360
Cornelia De Lange Syndrome 5	Limited elbow extension, Telecanthus, Long eyelashes, Retrognathia, Brachycephaly, Proximal place...	OMIM:300882
Smith-Magenis Syndrome	Head-banging, Brachycephaly, Synophrys, EEG abnormality, Mandibular prognathia, Short stature, Ab...	OMIM:182290
Pontocerebellar Hypoplasia, Type 3	Low-set ears, Decreased body weight, Progressive microcephaly, Cerebral atrophy, Brachycephaly, H...	OMIM:608027
Jeune Syndrome	Postaxial foot polydactyly, Abnormal metaphysis morphology, Micromelia, Toe syndactyly, Abnormal ...	ORPHA:474
Intellectual Disability-Strabismus Syndrome	Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Rocker bottom foot, Hearing impair...	ORPHA:363528
Cerebrooculofacioskeletal Syndrome 1	Second metatarsal posteriorly placed, Rocker bottom foot, Carious teeth, Cerebellar hypoplasia, M...	OMIM:214150
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Short palm, Micrognathia, Short 1st metacarpal, Elbow dislocation	ORPHA:93328
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Polymicrogyria, Secondary microcephaly, Intrauterine growth retardation, Microcephaly, Small hand...	OMIM:615282
Distal Deletion 10Q	Epicanthus, Hip dislocation, Hip dysplasia, Protruding ear, Atrial septal defect, Short metatarsa...	ORPHA:96148
Radio-Tartaglia Syndrome	Epicanthus, Ventricular septal defect, Thick eyebrow, Upslanted palpebral fissure, Hearing impair...	OMIM:619312
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Brachycephaly, Short nose, Skeletal muscle atrophy, Intrauterine growth retardation...	OMIM:615419
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Proximal placement of thumb, Patent foramen ovale, Short sternum, Hypo...	OMIM:620113
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Macrocephaly, Ventricular septal defect, Optic nerve hypoplasia, Rocker bottom foot, Hearing impa...	OMIM:301056
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Macrocephaly, Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Toe syndactyly, Broa...	OMIM:619720
Feingold Syndrome Type 2	Short thumb, Ventricular septal defect, Short stature, Short middle phalanx of finger, Toe syndac...	ORPHA:391646
Pde4D Haploinsufficiency Syndrome	Short metatarsal, Hearing impairment, Short toe, Short phalanx of finger, Cone-shaped epiphysis, ...	ORPHA:439822
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Decreased head circumference, Dysplastic corpus callos...	ORPHA:500166
19P13.12 Microdeletion Syndrome	Epicanthus, Atrial septal defect, Ventricular septal defect, Microcephaly, Hypoplasia of the corp...	ORPHA:254346
Marden-Walker Syndrome	Inguinal hernia, Epicanthus, Microcephaly, Cerebellar hypoplasia, Blepharophimosis, Joint contrac...	OMIM:248700
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Low-set ears, Rocker bottom foot, Parietal cortical atrophy, Microcephaly, Micrognathia, Hand cle...	OMIM:618766
Omodysplasia 2	Short humerus, Dislocated radial head, Broad femoral neck, Micrognathia, Limited elbow flexion, F...	OMIM:164745
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Short distal phalanx of finger, Low-set ears, Progressive microcephaly...	OMIM:614261
Wiedemann-Steiner Syndrome	Epicanthus, Atrial septal defect, Thick eyebrow, Short palpebral fissure, Highly arched eyebrow, ...	OMIM:605130
Metatropic Dysplasia	Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Joint...	ORPHA:2635
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Enlargement of the costochondral junction, Short metatarsal, Capitate-ha...	OMIM:271650
Coffin-Siris Syndrome 6	Plagiocephaly, Low-set ears, Epicanthus, Retrognathia, Conductive hearing impairment, Tics, Atria...	OMIM:617808
Intellectual Developmental Disorder, Autosomal Recessive 73	Low-set ears, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Downslanted palpeb...	OMIM:619717
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr...	OMIM:616171
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short palpebral fissure, ...	ORPHA:370010
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Obesity, Bell-...	OMIM:615633
Trisomy 10P	Epicanthus, Low voltage EEG, Periventricular white matter hypodensities, Abnormality of the hand,...	ORPHA:171929
Ulnar Hemimelia	Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer...	ORPHA:93320
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Bruxism, Short palpebral fissure, Short proximal phalanx of the 2nd finger,...	ORPHA:261323
3P25.3 Microdeletion Syndrome	Congenital pseudoarthrosis of the clavicle, Epicanthus, Ventricular septal defect, Atrial septal ...	ORPHA:435638
Kohlschutter-Tonz Syndrome-Like	Ventricular septal defect, EEG abnormality, EEG with focal spike waves, Thick eyebrow, Carious te...	OMIM:619229
3Q13 Microdeletion Syndrome	Macrocephaly, Epicanthus, Joint stiffness, Abnormality of the hand, Wide nasal bridge, Agenesis o...	ORPHA:1621
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Macrocephaly, Type II lissencephaly, Epicanthus, Hypoplasia of the olfactory bulb, Optic nerve hy...	ORPHA:300570
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Craniosynostosis, Abnormal septum pellucidum morphology, Low-set ears, Cerebral atrophy, Brachyce...	ORPHA:171839
Masa Syndrome	Camptodactyly of finger, Short stature, Hand clenching, Agenesis of corpus callosum, Clinodactyly...	ORPHA:2466
Congenital Disorder Of Glycosylation, Type Iia	Macrocephaly, Ventricular septal defect, Proximal placement of thumb, Thick eyebrow, Microcephaly...	OMIM:212066
Suleiman-El-Hattab Syndrome	Inguinal hernia, Epicanthus, Polydactyly, Atrial septal defect, Ventricular septal defect, Protru...	OMIM:618950
Chromosome 5P13 Duplication Syndrome	Craniosynostosis, Macrocephaly, Small for gestational age, Low-set ears, Single transverse palmar...	OMIM:613174
Insulin-Like Growth Factor I, Resistance To	Ventricular septal defect, Atrial septal defect, Truncal obesity, Thick eyebrow, Upslanted palpeb...	OMIM:270450
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachycephaly, Severe short stature, Flat occiput, Abnormal finger morphology, Mandibular prognat...	ORPHA:2511
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu...	ORPHA:1836
Chromosome 6Pter-P24 Deletion Syndrome	Macrocephaly, Epicanthus, Hip dysplasia, Atrial septal defect, Tetralogy of Fallot, Ventricular s...	OMIM:612582
Smith-Magenis Syndrome	Chronic otitis media, Delayed puberty, EEG abnormality, Upslanted palpebral fissure, Toe syndacty...	ORPHA:819
Boomerang Dysplasia	Abnormally ossified vertebrae, Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Poor...	ORPHA:1263
Braddock-Carey Syndrome 1	Clinodactyly, Camptodactyly, Ventricular septal defect, Posteriorly rotated ears, Downslanted pal...	OMIM:619980
Chudley-Mccullough Syndrome	Polymicrogyria, Severe sensorineural hearing impairment, Partial agenesis of the corpus callosum,...	OMIM:604213
Bohring-Opitz Syndrome	Epicanthus, Ventricular septal defect, Atrial septal defect, Trigonocephaly, Upslanted palpebral ...	OMIM:605039
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening	ORPHA:1513
Adenylosuccinate Lyase Deficiency	Low-set ears, Brachycephaly, Flat occiput, Short nose, Microcephaly, Hypointensity of cerebral wh...	ORPHA:46
Lujan-Fryns Syndrome	Macrocephaly, Camptodactyly of finger, Low-set ears, Brachycephaly, Protruding ear, Atrial septal...	ORPHA:776
German Syndrome	Camptodactyly of finger, Brachycephaly, Tetralogy of Fallot, Abnormal eyebrow morphology, Synophr...	ORPHA:2077
Filippi Syndrome	2-4 toe syndactyly, Decreased body weight, Ventricular septal defect, Serrated incisors, Intraute...	OMIM:272440
Feingold Syndrome 2	Short thumb, Secondary microcephaly, Ventricular septal defect, Short stature, Short middle phala...	OMIM:614326
Kleefstra Syndrome Due To A Point Mutation	Plagiocephaly, Tracheomalacia, Inguinal hernia, Uplifted earlobe, Brachycephaly, Umbilical hernia...	ORPHA:261652
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Tracheomalacia, Proximal placement of thumb, Abnormal pinna morphology, Short nose,...	OMIM:217980
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Biparietal narrowing, Inguinal hernia, Epicanthus, Brachycephaly, Atrial septal defect, Umbilical...	ORPHA:1292
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Epicanthus, Ventricular septal defect, Atrial septal defect, Thick eyebrow, Upslanted palpebral f...	OMIM:617061
Chromosome 20Q11-Q12 Deletion Syndrome	Camptodactyly, Tarsal osteovalgus, Intrauterine growth retardation, Midface retrusion, Finger cli...	OMIM:614257
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Ulnar deviation of the wrist, Long eyelashes, Brachycephaly, Short nose, Midface r...	OMIM:618577
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Small for gestational age, Short ribs, Rhizomelia, Short tibia, Failure to thrive,...	OMIM:607143
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral...	OMIM:614039
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Macrocephaly, Slender build, Brachycephaly, Limb tremor, Short stature, Interictal epileptiform a...	OMIM:300699
Phenobarbital Embryopathy	Low-set ears, Epicanthus, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers, Abnormal mitral val...	ORPHA:1919
Gómez-López-Hernández Syndrome	Telecanthus, Low-set ears, Brachycephaly, Short stature, Midface retrusion, Abnormal cerebellum m...	ORPHA:1532
Weiss-Kruszka Syndrome	Epicanthus, Protruding ear, Ventricular septal defect, Proximal placement of thumb, Hearing impai...	OMIM:618619
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Thin corpus callosum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the pons, Mi...	OMIM:614249
Potocki-Shaffer Syndrome	Parietal foramina, Single transverse palmar crease, Epicanthus, Brachycephaly, Short nose, Downsl...	OMIM:601224
Microcephaly 17, Primary, Autosomal Recessive	Primary microcephaly, Microlissencephaly, Simplified gyral pattern, Short stature, Failure to thr...	OMIM:617090
Coffin-Siris Syndrome 2	Macroglossia, Short distal phalanx of finger, Inguinal hernia, Abnormal corpus callosum morpholog...	OMIM:614607
Sub-Cortical Nodular Heterotopia	Polymicrogyria, EEG with focal spikes, Abnormal basal ganglia morphology, EEG with focal slow act...	ORPHA:101029
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Macrocephaly, Increased bone mineral density, Brachycephaly, Broad jaw, Hearing...	ORPHA:178377
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Periventricular leukomalacia, Optic atrophy, Agenesis of corpus callosum, Joi...	OMIM:618324
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Macrocephaly, Epicanthus, Atrial septal defect, Thick eyebrow, Long fingers, Abnormal dentate nuc...	OMIM:619512
Axial Spondylometaphyseal Dysplasia	Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, P...	ORPHA:168549
20Q11.2 Microdeletion Syndrome	Camptodactyly, Intrauterine growth retardation, Midface retrusion, Finger clinodactyly, Hearing i...	ORPHA:444051
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx...	ORPHA:85188
Joubert Syndrome 18	Camptodactyly, Agenesis of cerebellar vermis, Retrognathia, Ventricular septal defect, Postaxial ...	OMIM:614815
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Prominent ear helix, Upslanted palpebral fissure, Hearing impairment, Long fingers, S...	OMIM:618659
Mosaic Trisomy 1	Macrocephaly, Camptodactyly of finger, Ventricular septal defect, Rocker bottom foot, Toe syndact...	ORPHA:1692
Pentasomy X	Delayed puberty, Camptodactyly of finger, Plagiocephaly, Low-set, posteriorly rotated ears, Hip d...	ORPHA:11
4Q21 Microdeletion Syndrome	Low-set ears, Long eyelashes, Synophrys, Intrauterine growth retardation, Hearing impairment, Tre...	ORPHA:238750
Apert Syndrome	Chronic otitis media, Ventricular septal defect, Brachyturricephaly, Hearing impairment, Shallow ...	OMIM:101200
Brachydactyly, Type A1	Broad metacarpal epiphyses, Short distal phalanx of finger, Aplasia/Hypoplasia of the middle phal...	OMIM:112500
Autosomal Recessive Spastic Paraplegia Type 69	Hand tremor, Aplasia/Hypoplasia of the cerebellar vermis, Hearing impairment, Agenesis of corpus ...	ORPHA:401830
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Short palm, Limitation of joint mobility, Flared, irregular rib ends, Coxa vara	ORPHA:168555
Emanuel Syndrome	Inguinal hernia, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, Se...	ORPHA:96170
Ritscher-Schinzel Syndrome 1	Low-set ears, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Atrial septal...	OMIM:220210
Foxg1 Syndrome	Abnormal corpus callosum morphology, Progressive microcephaly, Decreased body weight, Severe post...	ORPHA:561854
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Narrow palpebral fissure, Camptodactyly, Low-set ears, Epicanthu...	OMIM:613604
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Slender build, Slender long bones with narrow diaphyses, Long thorax, ...	OMIM:608154
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Polyhydramnios, Umbilical hernia, Large placenta	ORPHA:254534
Pseudoachondroplasia	Generalized joint laxity, Wind-swept deformity of the knees, Osteoarthritis, Irregular epiphyses,...	ORPHA:750
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Oligodactyly, Atrial septal defect, Intrauterine growth retardation, Abnormality of the hand, Abn...	ORPHA:521308
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Retrognathia, Brachycephaly, Short stature, Upslanted palpebral fissure, Microcephaly...	ORPHA:2528
15Q24 Microdeletion Syndrome	Clinodactyly, Small for gestational age, Epicanthus, Proximal placement of thumb, Downslanted pal...	ORPHA:94065
Autosomal Recessive Spastic Paraplegia Type 67	Limb tremor, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Generalize...	ORPHA:401820
Clark-Baraitser Syndrome	Narrow palpebral fissure, Low-set ears, Epicanthus, Brachycephaly, Short nose, Upslanted palpebra...	OMIM:617752
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Atrial septal defect, Proximal placement of thumb, Thick eyebrow, Hear...	OMIM:610759
Combined Oxidative Phosphorylation Deficiency 50	Hip dysplasia, Partial agenesis of the corpus callosum, Generalized dystonia, Intrauterine growth...	OMIM:619025
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Pulmonic stenosis, W...	ORPHA:3098
Mitochondrial Complex I Deficiency, Nuclear Type 16	Dystonia, Aplasia of the left hemidiaphragm, Intrauterine growth retardation, Failure to thrive, ...	OMIM:618238
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Epicanthus, Ventricular septal defect, Trigonocephaly, Short nose, Posteriorly rota...	OMIM:618506
Craniosynostosis 3	Bicoronal synostosis, Left unicoronal synostosis, Hallux valgus, Right unicoronal synostosis, Par...	OMIM:615314
Coffin-Siris Syndrome 5	Short distal phalanx of finger, Long eyelashes, Atrial septal defect, Intrauterine growth retarda...	OMIM:616938
Distal 7Q11.23 Microdeletion Syndrome	Chiari malformation, Microcephaly, Porencephalic cyst, Atrial septal defect	ORPHA:254351
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Simplified gyral pattern, Absent septum pellucidum, Short stature, Upslanted pa...	OMIM:618492
Thoracolaryngopelvic Dysplasia	Horizontal ribs, Slender build, Irregular chondrocostal junctions, Metaphyseal widening, Short ri...	OMIM:187760
11Q22.2Q22.3 Microdeletion Syndrome	Low-set ears, Epicanthus, Obesity, Posteriorly rotated ears, Thick eyebrow, Clinodactyly of the 5...	ORPHA:444002
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Uruguay Faciocardiomusculoskeletal Syndrome	Brachyturricephaly, Cardiomyopathy, Thick eyebrow, Ventricular hypertrophy, Hyperplasia of the ma...	OMIM:300280
17Q23.1Q23.2 Microdeletion Syndrome	Chronic otitis media, Epicanthus, Protruding ear, Atrial septal defect, Coxa magna, Hearing impai...	ORPHA:261279
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Global brain atrophy, Hypoplasia of the pons, Type 1 muscle fiber predominance, Skeletal muscle a...	OMIM:618276
De Barsy Syndrome	Inguinal hernia, Epicanthus, Progressive microcephaly, Generalized joint laxity, Ventricular sept...	ORPHA:2962
Macrocephaly, Acquired, With Impaired Intellectual Development	Macrocephaly, Thin corpus callosum, Downslanted palpebral fissures, Sparse eyebrow, Probst bundle...	OMIM:618286
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Hip dislocation, Global brain atrophy, Brachycephaly, Short nose, Failure to thrive...	OMIM:608776
Diastrophic Dysplasia	Short finger, Elbow dislocation, Camptodactyly of finger, Increased bone mineral density, Ulnar d...	ORPHA:628
Microcephaly 10, Primary, Autosomal Recessive	Small for gestational age, Primary microcephaly, Cerebellar hemisphere hypoplasia, Cerebral atrop...	OMIM:615095
Coffin-Siris Syndrome 7	Low-set ears, Epicanthus, Ventricular septal defect, Trigonocephaly, Posteriorly rotated ears, Do...	OMIM:618027
Lissencephaly 3	Polymicrogyria, Pachygyria, Microcephaly, Hypoplasia of the brainstem, Agyria, Lissencephaly, Hyp...	OMIM:611603
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Plagiocephaly, Low-set ears, Conductive hearing impairment, Brachycephaly, Hip dysplasia, Mandibu...	OMIM:618672
Osteopathia Striata-Cranial Sclerosis Syndrome	Macrocephaly, Epicanthus, Facial hyperostosis, Conductive hearing impairment, Severe short statur...	ORPHA:2780
Grant Syndrome	Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, Ab...	ORPHA:2097
Tetrasomy X	Epicanthus, Hip dysplasia, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Radioulna...	ORPHA:9
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Hip dysplasia, Protruding ear, Ventricular septal defect, Atrial s...	OMIM:249420
Fanconi Anemia, Complementation Group I	Colpocephaly, Short 1st metacarpal, Decreased body weight, Conductive hearing impairment, Short t...	OMIM:609053
Holt-Oram Syndrome	Down-sloping shoulders, Pectus excavatum, Abnormality of the humerus, Absent thumb, Joint stiffne...	ORPHA:392
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath...	ORPHA:3320
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Distal amyotrophy, EEG abnormality, Facial palsy, Type 2 mus...	OMIM:617519
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Short thumb, Trigonocephaly, Hearing impairment, Microcephaly, Single transverse palm...	OMIM:619148
White-Sutton Syndrome	Atrial septal defect, Upslanted palpebral fissure, Optic nerve hypoplasia, Broad thumb, Patent fo...	OMIM:616364
Kabuki Syndrome 2	Epicanthus, Hip dislocation, Protruding ear, Atrial septal defect, Atrioventricular canal defect,...	OMIM:300867
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Macrocephaly, Retrognathia, Overweight, EEG abnormality, Short nose, Mandibular prognathia, Hypop...	ORPHA:391372
Cono-Spondylar Dysplasia	Short humerus, Short lower limbs, Failure to thrive, Cone-shaped epiphyses of the phalanges of th...	ORPHA:420794
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal mitral valve morphology, Hernia of the abdominal wall, Abnormal shoulder morphology, Mic...	ORPHA:1277
Rhizomelic Limb Shortening With Dysmorphic Features	Clinodactyly of the 3rd finger, Macrocephaly, Plagiocephaly, Single transverse palmar crease, Sho...	OMIM:618821
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Tetralogy of Fallot, Stapes ankylosis, Thick eyebrow, Upslanted palpebral fissure, Highly arched ...	OMIM:614701
Coloboma Of Macula-Brachydactyly Type B Syndrome	Camptodactyly of finger, Short distal phalanx of finger, Short stature, Broad thumb, Type B brach...	ORPHA:1471
Trigonocephaly With Short Stature And Developmental Delay	Small for gestational age, Inguinal hernia, Low-set ears, Epicanthus, Ventricular septal defect, ...	OMIM:314320
3C Syndrome	Macrocephaly, Inguinal hernia, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fa...	ORPHA:7
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Hypoplasia of the frontal lobes, Olivopontocerebellar hypoplasia, Upslan...	ORPHA:468631
Periventricular Nodular Heterotopia 7	Ventricular septal defect, Dolichocephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Sho...	OMIM:617201
Symbrachydactyly Of Hands And Feet	Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb...	ORPHA:1570
Potocki-Lupski Syndrome	Small for gestational age, Atrial septal defect, Trigonocephaly, EEG abnormality, Downslanted pal...	OMIM:610883
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Metaphyseal irregularity, Brachydactyly, Coxa vara, Metaphyseal widening, Br...	OMIM:250420
Brachydactyly, Type A1, C	Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov...	OMIM:615072
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Macrocephaly, Low-set ears, Abnormally folded helix, Ventricular septal defect, Atrial...	OMIM:309520
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Epicanthus, Brachycephaly, Flattened epiphysis, Wide anterior fon...	ORPHA:163649
Chromosome 6Q24-Q25 Deletion Syndrome	Dysplastic pulmonary valve, Atrial septal defect, Upslanted palpebral fissure, Short palpebral fi...	OMIM:612863
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Developmental And Epileptic Encephalopathy 88	Inferior cerebellar vermis hypoplasia, Hypsarrhythmia, Progressive microcephaly, Partial agenesis...	OMIM:618959
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Subcortical cerebral atrophy, Tetralogy of Fallot, Hearing impairment, Highly ar...	ORPHA:96147
Cebalid Syndrome	Plagiocephaly, Polymicrogyria, Low-set ears, Brachycephaly, Abnormal pinna morphology, Short nose...	OMIM:618774
Usmani-Riazuddin Syndrome, Autosomal Recessive	Low-set ears, Epicanthus, Posteriorly rotated ears, Conjunctival hyperemia, Joint laxity, Agenesi...	OMIM:619548
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Bilateral ptosis, Downslanted palpebral fissures, Chiari type I malformation, Recu...	OMIM:618859
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Focal T2 hyperintense basal ganglia lesion, Brachycephaly, Generalized dystonia, Abnormal heart m...	ORPHA:70472
Acromesomelic Dysplasia 2C	Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ...	OMIM:201250
Pseudoachondroplasia	Short distal phalanx of finger, Radial metaphyseal irregularity, Osteoarthritis, Irregular epiphy...	OMIM:177170
Sandestig-Stefanova Syndrome	Epicanthus, Trigonocephaly, EEG abnormality, Perimembranous ventricular septal defect, Rocker bot...	OMIM:618804
Hadziselimovic Syndrome	Low-set ears, Epicanthus, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, P...	OMIM:612946
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Hearing impairment, Midface retrusion, Metacarpal synostosis, Brachydactyly	ORPHA:35099
Ravine Syndrome	Abnormal basal ganglia morphology, Abnormal auditory evoked potentials, Decreased body weight, Fa...	ORPHA:99852
Familial Digital Arthropathy-Brachydactyly	Short distal phalanx of finger, Short middle phalanx of finger, Osteoarthritis of the small joint...	ORPHA:85169
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Cerebral atrophy, Partial agenesis of the corpus callosum, Increas...	ORPHA:85179
Kleefstra Syndrome	Chronic otitis media, Tetralogy of Fallot, Ventricular septal defect, Upslanted palpebral fissure...	ORPHA:261494
Beck-Fahrner Syndrome	Macrocephaly, Brachycephaly, Hip dysplasia, Ventricular septal defect, Protruding ear, EEG abnorm...	OMIM:618798
Acrocallosal Syndrome	Macrocephaly, Abnormal pulmonary valve morphology, Inguinal hernia, Epicanthus, Preaxial foot pol...	OMIM:200990
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Atrial septal defect, Dolichocephaly, Congenital finger flexion contra...	OMIM:121050
Duane-Radial Ray Syndrome	Short humerus, Small thenar eminence, Absent radius, Short thumb, Preaxial polydactyly, Absent th...	OMIM:607323
Melnick-Needles Syndrome	Limited elbow extension, Short distal phalanx of finger, Short humerus, Hip dislocation, Pectus e...	OMIM:309350
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Hypsarrhythmia, Thin corpus callosum, Progressive microcephaly, Brachycephaly, Muscle fiber atrop...	OMIM:620240
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Microcephaly, Cerebellar hypoplasi...	OMIM:257300
Craniosynostosis 6	Parietal foramina, Bicoronal synostosis, Plagiocephaly, Craniosynostosis, Brachycephaly, Turricep...	OMIM:616602
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Limited elbow extension, Pectus excavatum, Thoracic hypoplasia, Metaphyseal wi...	OMIM:608728
Chromosome 10Q26 Deletion Syndrome	Epicanthus, Protruding ear, Atrial septal defect, Upslanted palpebral fissure, Toe syndactyly, Do...	OMIM:609625
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Epicanthus, Hip dysplasia, Thick eyebrow, Highly arched eyebrow, ...	OMIM:619293
Thanatophoric Dysplasia	Macrocephaly, Cloverleaf skull, Low-set ears, Joint stiffness, Hip dysplasia, Atrial septal defec...	ORPHA:2655
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Brachycephaly, Postaxial polydactyly, Synophrys, Downslanted palpebral fissures, Up...	OMIM:615761
Desbuquois Dysplasia 1	Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A...	OMIM:251450
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Macrocephaly, Inguinal hernia, Epicanthus, Atrial septal defect, Thick eyebrow, Upslanted palpebr...	OMIM:213980
Cerebrofacioarticular Syndrome	Epicanthus, Abnormal heart morphology, Microcephaly, Blepharophimosis, Hypoplasia of the corpus c...	ORPHA:314679
Lissencephaly, X-Linked, 1	Pachygyria, Agyria, Lissencephaly, Postnatal growth retardation, Agenesis of corpus callosum	OMIM:300067
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Congenital hip dislocation, Ventricular septal defect, Severe postnata...	ORPHA:3078
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Ventricular septal defect, Brachyturricephaly, Abnormal shape of the occiput, Shor...	OMIM:218350
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Broad distal phalanges of all fingers, Inguinal hernia, Hip dislocation, Atrial septal defect, Rh...	OMIM:245600
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Atrial septal defect, Ventricular septal defect, Synophrys, Short nose, Dislocated r...	ORPHA:401935
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Microcep...	ORPHA:457395
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Protruding ear, Atrial septal defect, Ventricular septal defect, Partial absence...	ORPHA:329224
Imagawa-Matsumoto Syndrome	Macrocephaly, Camptodactyly, Polymicrogyria, Umbilical hernia, Downslanted palpebral fissures, Ma...	OMIM:618786
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Macrocephaly, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Single trans...	OMIM:618870
Lissencephaly 7 With Cerebellar Hypoplasia	Hand clenching, Neonatal death, Lissencephaly, EEG with burst suppression, Microcephaly, Cerebell...	OMIM:616342
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Chronic otitis media, Low-set ears, Epicanthus, Long eyelashes, Protruding ear, Synophrys, Downsl...	ORPHA:480907
Marshall-Smith Syndrome	Short distal phalanx of finger, Cholesteatoma, Large sternal ossification centers, Hip dysplasia,...	OMIM:602535
Martsolf Syndrome 1	Inguinal hernia, Epicanthus, Cardiomyopathy, Short toe, Microcephaly, Short phalanx of finger, Os...	OMIM:212720
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Flat acetabular roof, Delayed ossification of carpal bones, Broad t...	OMIM:609616
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Atrioventricular canal defect, Broad thumb, Microcephaly, Frontal bossing, Medial ...	OMIM:617364
Chromosome 18Q Deletion Syndrome	Inguinal hernia, Epicanthus, Dysplastic pulmonary valve, Proximal placement of thumb, Atrial sept...	OMIM:601808
Léri-Weill Dyschondrosteosis	Abnormality of the humerus, Short tibia, Micromelia, Madelung deformity, Dorsal subluxation of ul...	ORPHA:240
Thiemann Disease, Familial Form	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Limitation of joint mobility, Brac...	ORPHA:3314
16P12.1P12.3 Triplication Syndrome	Low-set ears, Epicanthus, Retrognathia, Hallux valgus, Atrial septal defect, Short nose, Intraute...	ORPHA:485405
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplasia of the radius, Short 5th toe, Aplasia of the 4th metacarpal, Hypopla...	OMIM:181450
Tetralogy Of Fallot	Tetralogy of Fallot, Intrauterine growth retardation, Clinodactyly of the 5th finger, Dolichoceph...	ORPHA:3303
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Osteoporosis, Microcephaly, Joint hyperflexibility, Frontal bossi...	ORPHA:2787
Myasthenic Syndrome, Congenital, 23, Presynaptic	Calf muscle hypertrophy, Agenesis of corpus callosum, Ptosis	OMIM:618197
Christianson Syndrome	Decreased muscle mass, Mandibular prognathia, Cachexia, Thick eyebrow, Abnormal repetitive manner...	ORPHA:85278
2P15P16.1 Microdeletion Syndrome	Camptodactyly of finger, Inguinal hernia, Epicanthus, Protruding ear, EEG abnormality, Optic nerv...	ORPHA:261349
Intellectual Developmental Disorder, Autosomal Dominant 65	Single transverse palmar crease, Narrow palpebral fissure, Low-set ears, Synophrys, Posteriorly r...	OMIM:619320
Acromicric Dysplasia	Long eyelashes, Joint stiffness, Severe short stature, Abnormal eyebrow morphology, Short nose, S...	ORPHA:969
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Epicanthus, Protruding ear, Atrial septal defect, Ventricular septal defect, Hea...	OMIM:300998
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Joint stiffness, Aplasi...	ORPHA:1275
Hamamy Syndrome	Inguinal hernia, Hip dysplasia, Atrial septal defect, Complete atrioventricular canal defect, Lon...	OMIM:611174
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Primary microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:171703
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Osteoa...	OMIM:602111
Heart Defects-Limb Shortening Syndrome	Abnormal rib morphology, Mesomelic/rhizomelic limb shortening, Narrow chest, Abnormal metaphysis ...	ORPHA:1354
Desmosterolosis	Macrocephaly, Epicanthus, Microcephaly, Large earlobe, Lissencephaly, Abnormal cortical gyration,...	ORPHA:35107
Greenberg Dysplasia	Nonimmune hydrops fetalis, Increased nuchal translucency, Absent or minimally ossified vertebral ...	OMIM:215140
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Camptodactyly, Polyhydramnios, Umbilical hernia, Intrauterine growth retardation, Flexion contrac...	ORPHA:254528
Zechi-Ceide Syndrome	Narrow palpebral fissure, Short distal phalanx of finger, Low-set ears, Conductive hearing impair...	ORPHA:217017
Kury-Isidor Syndrome	Low-set ears, Brachycephaly, Hip dysplasia, Ventricular septal defect, Proximal placement of thum...	OMIM:619762
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Brachycephaly, Abnormal metacarpal morphology, Inflammatory abnorm...	ORPHA:93262
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Hip dislocation, Brachycephaly, Hip dysplasia, Agenesis of corpus callosum, Narrow...	OMIM:619435
Brunet-Wagner Neurodevelopmental Syndrome	Thin corpus callosum, Cerebral atrophy, Increased skull ossification, Wide nasal bridge, Thin eye...	OMIM:619690
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short stature, Sh...	ORPHA:52056
Snijders Blok-Campeau Syndrome	Macrocephaly, Low-set ears, Inguinal hernia, Thin corpus callosum, Epicanthus, Pulmonic stenosis,...	OMIM:618205
Atelosteogenesis Type Iii	Club-shaped distal femur, Elbow dislocation, Ulnar deviation of the wrist, Abnormality of the hum...	ORPHA:56305
Leri-Weill Dyschondrosteosis	Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca...	OMIM:127300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Thin bony cortex, Enlargement of the costochondral junction, Deformed rib cage, Bulging ...	OMIM:600081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Type II lissencephaly, Agenesis of cerebellar vermis, Cerebellar dysplasia, Left ventricular hype...	OMIM:613153
2Q32Q33 Microdeletion Syndrome	Low-set ears, Brachycephaly, Downslanted palpebral fissures, Short stature, Micrognathia, Clinoda...	ORPHA:251019
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial foot polydactyly, Low-set ears, Brachycephaly, Bilateral ptosis, Ventricular septal def...	ORPHA:404440
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Progressive microcephaly, Hand tremor, Short stature, Abnormal repetitive mannerisms, Recurrent h...	OMIM:617862
Keipert Syndrome	Clinodactyly, Macrocephaly, Camptodactyly, Low-set ears, Midface retrusion, Broad thumb, Joint la...	OMIM:301026
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Low-set ears, Epicanthus, Downslanted palpebral fissures, Mandibular prognathia, Short stature, H...	OMIM:619989
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Atrial septal defect, Umbilical hernia, EEG abnormality, Downs...	ORPHA:1035
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebral atrophy, Brachycephaly, Hypomimic face, Short stature, Microcephaly, Hypoplasia of the c...	ORPHA:320385
Intellectual Developmental Disorder, Autosomal Dominant 1	Hypoplasia of the frontal lobes, Hip dysplasia, Protruding ear, Bruxism, Thick eyebrow, Highly ar...	OMIM:156200
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Partial agenesis of the corpus callosum, EEG abnormality, Intrauterine...	OMIM:618346
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hip dislocation, Progressive microcephaly, Protruding ear, Hyperextensibility at wrists, Upslante...	ORPHA:481152
Cleidorhizomelic Syndrome	Rhizomelia, Brachydactyly, Short middle phalanx of the 5th finger, Diaphyseal thickening, Bilater...	ORPHA:1453
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Thin ribs, Intrauterine growth reta...	OMIM:300863
Alopecia-Intellectual Disability Syndrome	EEG abnormality, Short stature, Hearing impairment, Microcephaly, Macrotia, Growth delay, Short c...	ORPHA:2850
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Low-set ears, Agenesis of cerebellar vermis, Brachycephaly, Wide anterior fonta...	OMIM:601853
Chromosome 15Q13.3 Deletion Syndrome	Abnormal pinna morphology, Synophrys, Clinodactyly of the 5th finger, Abnormality of the palpebra...	OMIM:612001
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Ventricular septal defect, Atrial septal defect, Rhizomelia, Subvalvular aortic steno...	OMIM:614114
Donnai-Barrow Syndrome	Macrocephaly, Low-set ears, Partial agenesis of the corpus callosum, Ventricular septal defect, A...	OMIM:222448
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Brachycephaly, Ventricular septal defect, Short stature, Dextrotransposition of the gr...	OMIM:619995
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Macrocephaly, Telecanthus, Absent extraocular muscles, Hip dislocation, Brachycephaly, Coxa valga...	OMIM:109120
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Small for gestational age, Inguinal hernia, Delayed ossification of...	OMIM:618392
Osteogenesis Imperfecta, Type Xvi	Small for gestational age, Beaded ribs, Rhizomelia, Mesomelia, Osteopenia, Microretrognathia, Sho...	OMIM:616229
Kleefstra Syndrome 1	Conotruncal defect, Macroglossia, Brachycephaly, Abnormal pinna morphology, Synophrys, Mandibular...	OMIM:610253
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Hearing impairment, Increased susceptibility to fractures, Thick cerebral cortex...	ORPHA:357058
Cooper-Jabs Syndrome	Camptodactyly of finger, Reduced bone mineral density, Low-set, posteriorly rotated ears, Brachyc...	ORPHA:1488
Distal Duplication 5Q	Craniosynostosis, Low-set ears, Dextrocardia, Epicanthus, Absent thumb, Ventricular septal defect...	ORPHA:96097
Pontocerebellar Hypoplasia, Type 11	Decreased body weight, Hypoplasia of the pons, Skeletal muscle atrophy, Short stature, Microcepha...	OMIM:617695
Congenital Neuronal Ceroid Lipofuscinosis	Neuronal loss in the cerebral cortex, Low-set ears, Agenesis of corpus callosum, Aplasia/Hypoplas...	ORPHA:168486
Microhydranencephaly	Hydranencephaly, Skeletal muscle atrophy, Short stature, Athetosis, Generalized amyotrophy, Micro...	OMIM:605013
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Brachycephaly, Short nose, Finger syndactyly, Intrauterine growth retardation, ...	ORPHA:2145
Warburg Micro Syndrome 3	Polymicrogyria, Brachycephaly, Secondary microcephaly, Decreased muscle mass, Short nose, Optic a...	OMIM:614222
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Dysplastic corpus callosum, Talipes equinovarus, Flexion contracture, Op...	OMIM:613162
Cutis Laxa, Autosomal Recessive, Type Iie	Craniosynostosis, Inguinal hernia, Hip dislocation, Long eyelashes, Genu varum, Downslanted palpe...	OMIM:619451
Noonan Syndrome 13	Epicanthus, Atrial septal defect, Highly arched eyebrow, Microcephaly, Mitral valve prolapse, Cav...	OMIM:619087
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Cerebral atrophy, Basal ganglia cysts, Tremor, Ptosis, Microcephaly, W...	OMIM:312170
Turnpenny-Fry Syndrome	Macrocephaly, Atrial septal defect, Long fingers, Microcephaly, Mitral valve prolapse, Short ster...	OMIM:618371
Nabais Sa-De Vries Syndrome, Type 1	Narrow palpebral fissure, Thickened helices, Epicanthus, Primary microcephaly, Brachycephaly, Lon...	OMIM:618828
Hypophosphatasia	Craniosynostosis, Abnormal metaphysis morphology, Failure to thrive in infancy, Abnormal rib morp...	ORPHA:436
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Ventricular septal defect, Short nose, Toe syndact...	ORPHA:261120
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Brachycephaly, Hypoplasia of the pons, Flat occiput, Downslanted palpebral ...	OMIM:618736
Nicolaides-Baraitser Syndrome	Long eyelashes, Curly eyelashes, Severe short stature, Abnormal finger morphology, Downslanted pa...	ORPHA:3051
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Brachycephaly, Hearing impairment, Microcephaly, Wide nasal bridge, H...	OMIM:300958
Filippi Syndrome	Enlarged epiphyses, Limb dystonia, Clinodactyly of the 5th toe, Severe short stature, Ventricular...	ORPHA:3255
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Atrial septal defect, Trigonocephaly, Upslanted palpebral fissure, Large earlobe, Pre...	ORPHA:79113
Acrodysostosis	Epicanthus, Short metatarsal, Hearing impairment, Short toe, Epiphyseal stippling, Abnormal morph...	ORPHA:950
Juberg-Hayward Syndrome	Short thumb, Abnormal finger morphology, Abnormality of the elbow, Intrauterine growth retardatio...	ORPHA:2319
Occipital Horn Syndrome	Limited elbow extension, Short humerus, Pectus excavatum, Osteoporosis, Pelvic bone exostoses, Co...	OMIM:304150
Stevenson-Carey Syndrome	Camptodactyly, Low-set ears, Brachycephaly, Hip dysplasia, Atrial septal defect, Posteriorly rota...	OMIM:611961
20P13 Microdeletion Syndrome	Macrocephaly, Low-set ears, Narrow palpebral fissure, Polydactyly, Abnormal pinna morphology, Syn...	ORPHA:313781
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Dextrocardia, Low-set ears, Long eyelashes, Downslanted palpebral fissur...	ORPHA:2863
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	EEG abnormality, Midface retrusion, Single transverse palmar crease, Abnormal repetitive manneris...	OMIM:617820
Wolf-Hirschhorn Syndrome	Chronic otitis media, Epicanthus, Short thumb, Atrial septal defect, Hearing impairment, Highly a...	ORPHA:280
Aymé-Gripp Syndrome	Inguinal hernia, EEG abnormality, Upslanted palpebral fissure, Rocker bottom foot, Shallow orbits...	ORPHA:1272
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Macrocephaly, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dolicho...	ORPHA:457279
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Epicanthus, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Sy...	ORPHA:88630
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Macroglossia, Camptodactyly, Retrocerebellar cyst, Atrial septal defect, Hypoplasia of the pons, ...	ORPHA:397709
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phala...	OMIM:112700
Frank-Ter Haar Syndrome	Camptodactyly of finger, Inguinal hernia, Osteolysis, Joint stiffness, Protruding ear, Umbilical ...	ORPHA:137834
Sweeney-Cox Syndrome	Short distal phalanx of finger, Hearing impairment, Long fingers, 2-5 finger cutaneous syndactyly...	OMIM:617746
Fibrochondrogenesis 2	Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Bel...	OMIM:614524
X-Linked Intellectual Disability, Sutherland-Haan Type	Small for gestational age, Brachycephaly, Mandibular prognathia, Short stature, Upslanted palpebr...	ORPHA:93950
Severe Intellectual Disability And Progressive Spastic Paraplegia	Overweight, Generalized joint laxity, Short stature, Microcephaly, Abnormal repetitive mannerisms...	ORPHA:280763
Partial Duplication/Triplication Of The Short Arm Of Chromosome 9	Unusual dermatoglyphics, Broad toe, Short stature, Large earlobe, Agenesis of corpus callosum, Hy...	ORPHA:262767
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypoplasia of the frontal lobes, Hip dislocation, Short thumb, Ventricular septal defect, Tetralo...	OMIM:210710
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Hand polydactyly, Epicanthus, Intrauterine growth retardation, Short stature, Fo...	ORPHA:250989
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Prominent antihelix, Cerebral atrophy, Pulmonic stenosis, Skeletal...	OMIM:615802
Charcot-Marie-Tooth Disease, Type 4B1	Distal amyotrophy, Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evo...	OMIM:601382
Osebold-Remondini Syndrome	Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia...	OMIM:112910
Masa Syndrome	Macrocephaly, Short stature, Adducted thumb, Microcephaly, Talipes equinovarus, Agenesis of corpu...	OMIM:303350
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Ventricular septal defect, Atrial septal defect, Narrow palm, Upslanted palpebral fis...	OMIM:244450
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Failure to thrive, Microcephaly, Growth delay, Optic atrophy, Agenesis of corpu...	OMIM:274270
Chopra-Amiel-Gordon Syndrome	Macrocephaly, Brachycephaly, EEG abnormality, Short stature, Upslanted palpebral fissure, Midface...	OMIM:619504
Cleidocranial Dysplasia	Chronic otitis media, Macrocephaly, Hearing impairment, Supernumerary tooth, Carious teeth, Decre...	ORPHA:1452
Baraitser-Winter Syndrome 2	Retrognathia, Secondary microcephaly, Abnormal pinna morphology, Trigonocephaly, Short stature, H...	OMIM:614583
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Macroglossia, Delayed puberty, Polymicrogyria, Abnormal pinna morph...	OMIM:300354
Gaba-Transaminase Deficiency	Retrognathia, Downslanted palpebral fissures, EEG with burst suppression, Cerebellar hypoplasia, ...	OMIM:613163
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Atrial septal defect, Papilledema, Abnormality of the orbital region, ...	ORPHA:371428
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short finger, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal wideni...	OMIM:608940
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect, Hearing impairment, Highly arched eyebrow, Short...	OMIM:257920
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Ulnar deviation of the 3rd finger, Proximal placement of thumb, EEG abnormality,...	ORPHA:456312
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Cerebral atrophy, Abnormal basal ganglia morphology, Periven...	ORPHA:255182
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Inguinal hernia, Brachycephaly, Skeletal muscle atrophy, Abnormal globus pallidus ...	OMIM:618603
Alg9-Cdg	Progressive microcephaly, Ventricular septal defect, Atrial septal defect, Rhizomelia, Abnormal h...	ORPHA:79328
Loeys-Dietz Syndrome 5	Inguinal hernia, Atrial septal defect, Ventricular septal defect, Osteoarthritis, Dolichocephaly,...	OMIM:615582
Trichohepatoneurodevelopmental Syndrome	Epicanthus, Hip dislocation, Hip dysplasia, Ventricular septal defect, EEG abnormality, Microceph...	OMIM:618268
Sotos Syndrome	Macrocephaly, Atrial septal defect, Ventricular septal defect, Narrow jaw, Muscular ventricular s...	OMIM:117550
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Intrauterine growth retardation, Slender long bone, Abnormal pelvic gird...	ORPHA:1506
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Progressive microcephaly, Ventricular septal defect, Atrial septal defect, Trigonocep...	OMIM:610536
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Hypsarrhythmia, Brachycephaly, Short stature, Athetosis, Failure to thrive, Microcephaly, Choreoa...	OMIM:309541
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Rhizomelia, Upslanted palpebral fissure, Microcephaly, Single transvers...	OMIM:611209
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormality of fibula morphology, Intrauterine growth retardation, Lower limb undergrowth, Microg...	ORPHA:3035
Peroxisomal Acyl-Coa Oxidase Deficiency	Low-set ears, Brachycephaly, Bilateral sensorineural hearing impairment, Wide nasal bridge, Front...	OMIM:264470
Emanuel Syndrome	Inguinal hernia, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, Ch...	OMIM:609029
20Q11.2 Microduplication Syndrome	Inguinal hernia, Epicanthus, Trigonocephaly, Microcephaly, Low-set, posteriorly rotated ears, Bra...	ORPHA:363659
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Macrocephaly, Low-set ears, Epicanthus, Brachycephaly, Bruxism, Upslanted palpebral fissure, Midf...	OMIM:300260
Epilepsy, Progressive Myoclonic, 9	Generalized amyotrophy, Short thumb, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Epicanthus, Ventricular septal defect, Short palpebral fissure, Patent foramen o...	OMIM:613457
Codas Syndrome	Epicanthus, Congenital hip dislocation, Ventricular septal defect, Short nose, Short metacarpal, ...	ORPHA:1458
Ulnar Hypoplasia	Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ...	OMIM:191440
Osteogenesis Imperfecta, Type Ii	Thoracic hypoplasia, Small for gestational age, Beaded ribs, Limb undergrowth, Thin ribs, Broad l...	OMIM:166210
Chromosome 16Q22 Deletion Syndrome	Single transverse palmar crease, Small for gestational age, Low-set ears, Epicanthus, Hip dysplas...	OMIM:614541
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Macrocephaly, Low-set ears, Inguinal hernia, Polydactyly, Flattened epiphys...	OMIM:607131
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Single transverse palmar crease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Pr...	ORPHA:3304
Coffin-Siris Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Thick eyebrow, Abnormal hea...	ORPHA:1465
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Epicanthus, Atrial septal defect, Ventricular septal defect, Sparse eyebrow, Mic...	ORPHA:464738
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Long eyelashes, Primary microcephaly, Skin rash, Hypoplasia of the pons, Downslanted palpebral fi...	OMIM:617523
Warburg Micro Syndrome 4	Brachycephaly, Secondary microcephaly, Severe postnatal growth retardation, Decreased muscle mass...	OMIM:615663
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Low-set ears, Epicanthus, Telecanthus, Overlapping fingers, Atrial septal defect, ...	OMIM:619383
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Craniosynostosis, Metaphyseal chondrodysplasia, Inguinal hernia, Hallux valgus, Low-set ears, Ven...	ORPHA:166035
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Inguinal hernia, Protruding ear, Abnormal hip bone morphology, Short stature, Microcephaly, Agene...	ORPHA:2508
Multiple Epiphyseal Dysplasia Type 1	Knee joint hypermobility, Finger joint hypermobility, Joint stiffness, Hip dysplasia, Genu varum,...	ORPHA:93308
2Q37 Microdeletion Syndrome	Macrocephaly, Upslanted palpebral fissure, Toe syndactyly, Highly arched eyebrow, Sparse eyebrow,...	ORPHA:1001
Rubinstein-Taybi Syndrome 1	Epicanthus, Hypoplastic left heart, Short thumb, Ventricular septal defect, Atrial septal defect,...	OMIM:180849
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Low-set ears, Atrial septal defect, Ventricular septal defect, EEG abnor...	ORPHA:261236
Acro-Renal-Ocular Syndrome	Short humerus, Radial club hand, Vertebral fusion, Short thumb, Finger syndactyly, Short distal p...	ORPHA:959
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Low-set ears, Epicanthus, Brachycephaly, Proximal placement of thumb, Downslanted ...	OMIM:615433
Thalidomide Embryopathy	Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo...	ORPHA:3312
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Abnormal pinna morphology, Thick eyebrow, Upslanted palpebral fissure, Broad finger, Perianal abs...	OMIM:614684
Polymicrogyria Due To Tubb2B Mutation	Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen...	ORPHA:300573
20P12.3 Microdeletion Syndrome	Macrocephaly, Thickened helices, Epicanthus, Atrial septal defect, Downslanted palpebral fissures...	ORPHA:261295
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Epicanthus, Short stature, Upslanted palpebral fissure, Failure to thrive, Recurrent otitis media...	OMIM:615286
Sugarman Brachydactyly	Double first metacarpals, Proximal placement of hallux, Symphalangism affecting the proximal phal...	OMIM:272150
Cranioectodermal Dysplasia 1	Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Pectus exca...	OMIM:218330
Rubinstein-Taybi Syndrome	Epicanthus, Hip dysplasia, Hearing impairment, Broad thumb, Highly arched eyebrow, Carious teeth,...	ORPHA:783
Crouzon Syndrome	Multiple suture craniosynostosis, Conductive hearing impairment, Brachycephaly, Chiari malformati...	ORPHA:207
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Low-set ears, Telecanthus, Postaxial polyda...	OMIM:617102
Tonne-Kalscheuer Syndrome	Downslanted palpebral fissures, Short stature, Abnormal heart morphology, Micrognathia, Tremor, B...	OMIM:300978
Terminal Osseous Dysplasia	Camptodactyly of toe, Camptodactyly of finger, Low-set ears, Epicanthus, Abnormal foot bone ossif...	OMIM:300244
Schizencephaly	Agenesis of corpus callosum, Schizencephaly, Cerebral cortical atrophy	OMIM:269160
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Inguinal hernia, Hip dislocation, Epicanthus, Atrial septal defect, Proximal placement of thumb, ...	OMIM:609945
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Epicanthus, Secondary microcephaly, Atrial septal defect, Arachnodactyly, Short stature, Failure ...	OMIM:300986
Spondylometaphyseal Dysplasia, Algerian Type	Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Anterior r...	OMIM:184253
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Short lower limbs, Pectus excavatum, Multiple prenatal fractures, Bowing of limbs du...	OMIM:259440
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hip dislocation, Generalized joint laxity, Ventricular septal defect, Tetralogy of Fallot, Atriov...	ORPHA:508498
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Polymicrogyria, Low-set ears, Hypsarrhythmia, Cerebral atrophy, Hip dysplasia, Atrial septal defe...	OMIM:618494
Lethal Faciocardiomelic Dysplasia	Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Intrauterine growth retarda...	ORPHA:1972
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C...	OMIM:619302
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Hand polydactyly, Abnormal antitragus morphology, Brachycephal...	ORPHA:2377
Multiple Synostoses Syndrome	Conductive hearing impairment, Joint stiffness, Broad thumb, Short palm, Symphalangism affecting ...	ORPHA:3237
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Plagiocephaly, Low-set, posteriorly rotated ears, Epicanthus, Atrial septal def...	ORPHA:457193
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Brachyturricephaly, Shallow orbits, Dolichocephaly, Microcephaly, Mitral valve p...	OMIM:182212
Femoral-Facial Syndrome	Short humerus, Short fifth metatarsal, Absent vertebra, Short fourth metatarsal, Missing ribs, Li...	OMIM:134780
7Q11.23 Microduplication Syndrome	Chronic otitis media, Macrocephaly, Inguinal hernia, Ventricular septal defect, Atrial septal def...	ORPHA:96121
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Intrauterine growth retardation, Short stature, Failure to thrive, Tremor, ...	OMIM:617744
Summitt Syndrome	Craniosynostosis, Macrocephaly, Camptodactyly of finger, Plagiocephaly, Epicanthus, Finger syndac...	ORPHA:3210
Intellectual Developmental Disorder, Autosomal Dominant 22	Long nose, Low-set ears, Stereotypical hand wringing, Epicanthus, Abnormal pinna morphology, Brux...	OMIM:612337
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Atrial septal defect, Truncal obesity, Microcephaly, Hypoplasia of the corpus callosum, Coxa vara...	ORPHA:2637
Lessel-Kreienkamp Syndrome	Plagiocephaly, Epicanthus, Pulmonic stenosis, Atrial septal defect, Hypoplastic helices, Upslante...	OMIM:619149
Achondrogenesis, Type Ia	Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Abnormal ...	OMIM:200600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Decreased body weight, EEG abnormality, Short stature, Optic nerve hypoplasia, Dy...	OMIM:614833
Basel-Vanagaite-Smirin-Yosef Syndrome	Uplifted earlobe, Low-set ears, Inguinal hernia, Retrognathia, Cerebral atrophy, Epicanthus, Atri...	OMIM:616449
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Intrauterine growth retardation, Short stature, Microcephaly, Dilated ...	ORPHA:2515
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Macrocephaly, Plagiocephaly, Low-set ears, Epicanthus, Brachycephaly, Short nose, Posteriorly rot...	OMIM:618430
Weismann-Netter Syndrome	Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab...	ORPHA:3344
Abruzzo-Erickson Syndrome	Epicanthus, Ulnar deviation of finger, Conductive hearing impairment, Atrial septal defect, Short...	ORPHA:921
Congenital Muscular Dystrophy With Cerebellar Involvement	Type II lissencephaly, Olivopontocerebellar hypoplasia, Cardiomyopathy, Optic nerve hypoplasia, A...	ORPHA:370959
Mesomelic Dysplasia, Savarirayan Type	Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl...	ORPHA:85170
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Ventricular septal defect, Atrial septal defect, Hearing impairment, Optic nerve dysp...	OMIM:614866
Microcephaly 13, Primary, Autosomal Recessive	Small for gestational age, Primary microcephaly, Metaphyseal sclerosis, Partial agenesis of the c...	OMIM:616051
Microcephaly 26, Primary, Autosomal Dominant	Stereotypical hand wringing, Trigonocephaly, Short nose, Simplified gyral pattern, Short stature,...	OMIM:619179
Intellectual Developmental Disorder, Autosomal Recessive 74	Macrocephaly, Mandibular prognathia, Relative macrocephaly, Dolichocephaly, Wide nasal bridge, EE...	OMIM:617169
Mend Syndrome	Low-set ears, Hand polydactyly, Limb hypertonia, Overlapping toe, Wide anterior fontanel, Short s...	ORPHA:401973
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Short nose, Short metacarpal, S...	OMIM:614078
Craniodiaphyseal Dysplasia, Autosomal Dominant	Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Thickened ribs, Cor...	OMIM:122860
Spondylometaphyseal Dysplasia, Kozlowski Type	Short distal phalanx of finger, Short greater sciatic notch, Absent epiphyses of the phalanges of...	ORPHA:93314
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Low-set, posteriorly rotated ears, Ulnar deviation ...	ORPHA:1387
Hall-Riggs Mental Retardation Syndrome	Epicanthus, Osteoporosis, Intrauterine growth retardation, Enamel hypoplasia, Failure to thrive, ...	OMIM:234250
Intellectual Developmental Disorder, Autosomal Dominant 53	Macrocephaly, Epicanthus, Brachycephaly, Posterior plagiocephaly, Ventricular septal defect, EEG ...	OMIM:617798
Short Stature-Micrognathia Syndrome	Retrognathia, Decreased body weight, Ventricular septal defect, Metaphyseal widening, Rhizomelia,...	OMIM:617164
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Umbilical hernia, Aplasia of the middle phalanx ...	OMIM:615297
Metaphyseal Acroscyphodysplasia	Telecanthus, Epicanthus, Severe short stature, Abnormal metaphysis morphology, Abnormal diaphysis...	ORPHA:1240
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Hip dislocation, Ventricular septal defect, Tetralogy of Fallot,...	ORPHA:3472

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