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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 (2388 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		Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Delayed puberty, Pro...	ORPHA:199
Cornelia De Lange Syndrome 1		Congenital diaphragmatic hernia, Proximal placement of thumb, Highly arched eyebrow, Sensorineura...	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	Rhizomelia, Epiphyseal stippling, Failure to thrive, 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	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	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	Pulmonic stenosis, Secundum atrial septal defect	OMIM:178650
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:607778
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv...	ORPHA:75508
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
46,Xx Sex Reversal 5	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:618901
Greig Cephalopolysyndactyly Syndrome	Trigonocephaly, Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Craniosynos...	OMIM:175700
Rhizomelic Chondrodysplasia Punctata, Type 5	Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irr...	OMIM:616716
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad...	ORPHA:3268
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Highly arched eyebrow, Abnormal pinna morphology, Microcephaly, Broad thumb, Intrau...	OMIM:617452
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hypertrophy, Ventricular sep...	OMIM:108900
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Autism Spectrum Disorder Due To Auts2 Deficiency	Bilateral ptosis, Retrognathia, Joint contracture of the 5th finger, Hyperactivity, Highly arched...	ORPHA:352490
Cornelia De Lange Syndrome 2	Brachycephaly, Limited elbow movement, Postnatal growth retardation, Proximal placement of thumb,...	OMIM:300590
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Highly arched eyebrow, Trigonocephaly, Microcephaly, Intrauterine growth retardatio...	OMIM:613792
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, F...	OMIM:211350
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal calvaria morphology, Prominent oc...	ORPHA:89844
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Highly arched eyebrow, Microcephaly, Arachnodactyly, Broad thumb, Intrauterine grow...	ORPHA:505237
Gombo Syndrome	Delayed puberty, Radial deviation of finger, Microcephaly, Abnormal heart morphology, Brachydacty...	OMIM:233270
Multiple Synostoses Syndrome 1	Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec...	OMIM:186500
Al Kaissi Syndrome	Abnormal pinna morphology, Microcephaly, Intrauterine growth retardation, Clinodactyly, Deep palm...	OMIM:617694
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Highly arched eyebrow, Microcephaly, Umbilical hernia, Intrauterine growth retarda...	OMIM:615834
Catel-Manzke Syndrome	Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Highly a...	ORPHA:1388
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Recurrent aspiration pneumonia, Lateral ventricle dilatation, Intrauterine growth r...	ORPHA:79243
Rhizomelic Dysplasia, Patterson-Lowry Type	Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger...	ORPHA:2831
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Retrognathia, Preaxial polydactyly, Highly arch...	OMIM:618142
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Hyperactivity, Abnormal heart morphology, Syndactyly, Umbilical hernia, EEG abnormality, Clinodac...	ORPHA:369891
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
Microcephaly 16, Primary, Autosomal Recessive	Telecanthus, Decreased body weight, Short stature, Ptosis, Micrognathia, Simplified gyral pattern...	OMIM:616681
Kyphomelic Dysplasia	Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Short thorax, Undulate ribs,...	ORPHA:1801
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Relative macrocephaly, Trigonocephaly, Aortic valve s...	ORPHA:459061
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Cloverleaf skull, Low-se...	ORPHA:93267
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Talipes equinov...	ORPHA:3306
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Low-set ears, Microcephaly, Micrognathia, Agenesis of corpus callosum, Intrau...	OMIM:616570
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r...	OMIM:602471
Aminopterin Syndrome Sine Aminopterin	Megalencephaly, Highly arched eyebrow, Microcephaly, Arachnodactyly, Syndactyly, Umbilical hernia...	OMIM:600325
Eng-Strom Syndrome	Arthritis, Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine growth retardation...	ORPHA:1937
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Prominent fingertip pads, Microcephaly, Arachnodactyly, Broad thumb, Bicuspid aortic valve, Joint...	OMIM:619721
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd finger, Broad thumb, Coxa valga, Cerebellar vermis hypoplasia, Short palm...	OMIM:620073
Corpus Callosum, Agenesis Of	Macrocephaly, Camptodactyly, Microcephaly, Frontal bossing, Growth delay, Agenesis of corpus call...	OMIM:217990
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ...	OMIM:613854
Microcephaly 5, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Highly arched eyebrow, Cortical dysplasia, Small cerebral cort...	OMIM:608716
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Blepharophimosis, Low-set ears, Microcephaly, Failure to thrive, Micro...	OMIM:612626
Intellectual Developmental Disorder, Autosomal Dominant 48	Dysgenesis of the cerebellar vermis, Hyperactivity, Tracheobronchomalacia, Highly arched eyebrow,...	OMIM:617751
Weiss-Kruszka Syndrome	Dysplastic corpus callosum, Short nose, Clinodactyly of the 5th finger, Proximal placement of thu...	ORPHA:502430
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, L...	OMIM:108720
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va...	ORPHA:166024
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Pulmonic stenosis...	OMIM:201000
Fetal Trimethadione Syndrome	Brachycephaly, Short nose, Bilateral single transverse palmar creases, Transposition of the great...	ORPHA:1913
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Pierpont Syndrome	Prominent fingertip pads, Microcephaly, Broad palm, Short finger, Deep palmar crease, Hearing imp...	OMIM:602342
Metatropic Dysplasia	Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Flare...	OMIM:156530
8Q12 Microduplication Syndrome	Brachycephaly, Telecanthus, Highly arched eyebrow, Abnormal cranial nerve morphology, Sensorineur...	ORPHA:228399
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal earlobe morphology, Highly arched eyebrow, Tracheobronchomalacia, Abnormal size of the p...	ORPHA:500159
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased skull ossification, Multiple prenatal fractures, Microcephaly, Intrauterine growth reta...	OMIM:616897
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Sensorineural hearing impairment, Short metacarpal, Aggress...	OMIM:600430
Roifman Syndrome	Short metacarpal, Microcephaly, Irregular femoral epiphysis, Intrauterine growth retardation, Sho...	OMIM:616651
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Polymicro...	OMIM:610031
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th...	ORPHA:2370
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla...	ORPHA:2878
Roifman Syndrome	Bilateral single transverse palmar creases, Microcephaly, Intrauterine growth retardation, Short ...	ORPHA:353298
Recombinant Chromosome 8 Syndrome	Brachycephaly, Cerebral atrophy, Secondary microcephaly, Postnatal growth retardation, Clinodacty...	OMIM:179613
Even-Plus Syndrome	Brachycephaly, Dysplastic corpus callosum, Short nose, Highly arched eyebrow, Patent foramen oval...	OMIM:616854
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Short nose, Sandal gap, Highl...	OMIM:300887
Pierpont Syndrome	Abnormal subcutaneous fat tissue distribution, Brachycephaly, Short finger, Abnormal cortical gyr...	ORPHA:487825
Warburg Micro Syndrome 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Optic atrophy, Cerebellar vermis hypoplasia,...	OMIM:600118
Smith-Magenis Syndrome	Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, ...	OMIM:182290
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ...	ORPHA:1350
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Rocker bottom foot, Hyperactivity, Highly arched eyebrow, Congen...	ORPHA:363528
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Cerebral atrophy, Short nose, Protruding ear, Inguinal hernia, Telecanthus, Facial...	OMIM:615539
Muenke Syndrome	Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hea...	OMIM:602849
Radio-Tartaglia Syndrome	Retrognathia, Highly arched eyebrow, Impulsivity, Microcephaly, Dysphagia, Aggressive behavior, T...	OMIM:619312
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
6Q25 Microdeletion Syndrome	Rocker bottom foot, Plagiocephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated e...	ORPHA:251056
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, J...	ORPHA:1040
19P13.12 Microdeletion Syndrome	Sandal gap, Hyperactivity, Sensorineural hearing impairment, Abnormal pinna morphology, Microceph...	ORPHA:254346
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent occiput, Highly arched eyebrow, Microcephaly, Joint hypermobility, Intrauterine growth ...	OMIM:617360
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial diplegia, Decreased nerve conduction velocity, Tremor, Limb muscle weakness, Skeletal musc...	OMIM:218000
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Sandal gap, Facial diplegia, Prominent fingertip pads, Coc...	ORPHA:96148
Feingold Syndrome Type 2	Microcephaly, Short stature, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe synd...	ORPHA:391646
Craniofrontonasal Dysplasia	Brachycephaly, Plagiocephaly, Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum,...	ORPHA:1520
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly, Congenital diaphragmatic hernia, Retrognathia, Narrow greater sciatic notch, Telec...	OMIM:263210
Distal 7Q11.23 Microdeletion Syndrome	Chiari malformation, Porencephalic cyst, Microcephaly, Attention deficit hyperactivity disorder, ...	ORPHA:254351
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Frontonasal Dysplasia 1	Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Frontal cutaneous lipoma, Low-set...	OMIM:136760
Camptodactyly Syndrome, Guadalajara Type 1	Highly arched eyebrow, Microtia, Microcephaly, Short distal phalanx of finger, Intrauterine growt...	ORPHA:1327
Pentasomy X	Delayed puberty, Plagiocephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears...	ORPHA:11
Ventriculomegaly And Arthrogryposis	Micrognathia, Hand clenching, Ulnar deviation of the wrist, Agenesis of corpus callosum, Cerebell...	OMIM:619501
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Muscular dystrophy, Optic atrophy, Aplasia/Hypoplasia of the corpus...	ORPHA:272
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, ...	OMIM:222765
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Macrocephaly, Telecanthus, Preaxial foot polydactyly, Finger syn...	ORPHA:380
Wiedemann-Steiner Syndrome	Broad lateral eyebrow, Hyperactivity, Highly arched eyebrow, Microcephaly, Contracture of the dis...	OMIM:605130
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Bowing of the long bones, Osteop...	OMIM:239000
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Hypoplasia of the corpus callosum, Secondary microcephaly, Polymicrogyria, Cortical dysplasia, Mi...	OMIM:615282
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Abnormal pinna ...	ORPHA:352530
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Thin corpus callosum, Hyperactivity, Microcephaly, Broad thumb, Bicuspid aortic valve, Joint hype...	OMIM:619720
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormal palmar dermatoglyphics, Clinodactyly, Finger symphalangism, Short distal phalanx of hall...	ORPHA:3246
ERI1-related disease	Dislocated radial head, Oligodactyly, Trigonocephaly, Abnormal heart morphology, Syndactyly, Slen...	OMIM:608739
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Clinodactyly of the 5th finger, Single transverse palmar crease, Recurrent hand flapp...	OMIM:619717
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Secondary microcephaly, Postnatal growth retardation, Low-set, posteriorly rotated ears, Inguinal...	ORPHA:3369
Coffin-Siris Syndrome 6	Narrow palpebral fissure, Plagiocephaly, Periventricular leukomalacia, Retrognathia, Low-set ears...	OMIM:617808
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Pulmonic stenosis, Broad thumb, Ov...	ORPHA:435638
Non-Distal Duplication 10Q	Brachycephaly, Short nose, Low-set, posteriorly rotated ears, Microcephaly, Frontal bossing, Down...	ORPHA:1695
Chromosome 2P16.1-P15 Deletion Syndrome	Retrognathia, Optic nerve hypoplasia, Sensorineural hearing impairment, Microcephaly, Arachnodact...	OMIM:612513
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation, Thin corpus callosum, Reduced bone mineral density, Microcephaly,...	OMIM:620200
Baraitser-Winter Syndrome 1	Retrognathia, Highly arched eyebrow, Sensorineural hearing impairment, Trigonocephaly, Aortic val...	OMIM:243310
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Sensorineural hearing impairment, Microcephaly, Coxa v...	OMIM:212066
Lissencephaly 4	Growth delay, Short stature, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum,...	OMIM:614019
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Long nose, Retrognathia, Clinodactyly of the 5th toe, Proximal placement of thumb, Colpocephaly, ...	OMIM:620113
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly, Macrocephaly, Interictal epileptiform activity, Frontal cortical atrophy, Short st...	OMIM:300699
21Q22.11Q22.12 Microdeletion Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Hyperactivity, Microtia, Microcephaly, Bruxis...	ORPHA:261323
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Highly arched eyebrow, Microcephaly, Severe...	OMIM:270450
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Brachycephaly, Plagiocephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Gl...	OMIM:616801
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Lujan-Fryns Syndrome	Brachycephaly, Protruding ear, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Low-set e...	ORPHA:776
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br...	OMIM:617405
Autosomal Dominant Omodysplasia	Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Elbow dislocation	ORPHA:93328
Microcephaly-Capillary Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Optic atrophy, Small for gestati...	OMIM:614261
Macrocephaly, Acquired, With Impaired Intellectual Development	Thin corpus callosum, Macrocephaly, Impulsivity, Downslanted palpebral fissures, Sparse eyebrow, ...	OMIM:618286
Trisomy 10P	Retrognathia, Abnormal heart morphology, Dysphagia, Intrauterine growth retardation, Primary micr...	ORPHA:171929
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Flexion contracture of toe, Cerebellar atrophy, Wrist flexion contracture, Mi...	OMIM:193700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Optic nerve hypoplasia, Pulmonic stenosis, Microcephaly, Intrau...	OMIM:301056
Jeune Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Cornelia De Lange Syndrome 5	Limited elbow extension, Brachycephaly, Retrognathia, Postnatal growth retardation, Clinodactyly ...	OMIM:300882
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen...	OMIM:620662
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Yellow-brown discoloration of the teeth, Microcephaly, Dysphagia, Lateral ventricle d...	OMIM:619229
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Microcephaly, Arachnodactyly, Intrauterine growth retardat...	OMIM:248700
Pontocerebellar Hypoplasia, Type 3	Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Optic atrophy, Progressive mi...	OMIM:608027
Suleiman-El-Hattab Syndrome	Highly arched eyebrow, Microcephaly, Palpebral thickening, Clinodactyly, Polydactyly, Inguinal he...	OMIM:618950
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Microcephaly, Dysphagia, Aggressive behavior, Tremor, Compulsive behavi...	OMIM:617061
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Large for gestational age, Cereb...	ORPHA:261652
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Sensorineural hearing impairment, Cerebellar atrophy, Microcephaly, Coxa valg...	OMIM:214150
Coffin-Siris Syndrome 2	Inguinal hernia, Delayed eruption of teeth, Hyperactivity, Dandy-Walker malformation, Abnormal pi...	OMIM:614607
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect	OMIM:611926
Feingold Syndrome 2	Secondary microcephaly, Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of...	OMIM:614326
German Syndrome	Brachycephaly, Limitation of joint mobility, Synophrys, Short stature, Camptodactyly of finger, A...	ORPHA:2077
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly, Short nose, Optic atrophy, Postnatal growth retardation, Low-set ears, Microcephal...	OMIM:615419
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti...	OMIM:271650
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Microcephaly, S...	OMIM:618492
White-Sutton Syndrome	Congenital diaphragmatic hernia, Thin corpus callosum, Hyperactivity, Optic nerve hypoplasia, Sen...	OMIM:616364
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral ptosis, Thin corpus callosum, Hyperactivity, Sensorineural hearing impairment, Dislocat...	OMIM:619512
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Thin corpus callosum, Microcephaly, Hypoplasia of the pons, Dystonia, Choreoathetosis, Atrial sep...	OMIM:614249
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Joint hypermobility, Intrauterine growth retardation, Cone-sh...	ORPHA:439822
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Braddock-Carey Syndrome 1	Telecanthus, Camptodactyly, Microcephaly, Enamel hypoplasia, Downslanted palpebral fissures, Macr...	OMIM:619980
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Optic atrophy, Rocker bottom foot, Frontal cortical atrophy, Low-set ears, Microcephaly, Parietal...	OMIM:618766
Toriello-Carey Syndrome	Abnormal pinna morphology, Cardiomyopathy, Pulmonic stenosis, Microcephaly, Intrauterine growth r...	ORPHA:3338
Chromosome 5P13 Duplication Syndrome	Turricephaly, Craniosynostosis, Compulsive behaviors, Frontal bossing, Large hands, Posteriorly r...	OMIM:613174
Bohring-Opitz Syndrome	Retrognathia, Dislocated radial head, Trigonocephaly, Microcephaly, Syndactyly, Intrauterine grow...	OMIM:605039
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Sensorineural hearing impairment, Umbilical hernia, Joint hypermobility, Dand...	OMIM:612582
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Low-set ears, Microcephaly, Abnormal mitral...	ORPHA:1919
Clark-Baraitser Syndrome	Brachycephaly, Short nose, Sandal gap, Hyperactivity, Low-set ears, Microcephaly, Obesity, Dolich...	OMIM:617752
Filippi Syndrome	Optic atrophy, Postnatal growth retardation, Finger clinodactyly, Single transverse palmar crease...	OMIM:272440
16P12.1P12.3 Triplication Syndrome	Retrognathia, Hyperactivity, Prominent fingertip pads, Abnormal heart morphology, Intrauterine gr...	ORPHA:485405
Joubert Syndrome 18	Retrognathia, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Agenesis of cerebel...	OMIM:614815
Emanuel Syndrome	Congenital diaphragmatic hernia, Severe hearing impairment, Pulmonic stenosis, Aortic valve steno...	ORPHA:96170
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Optic atrophy, Talipes equinovarus, Cerebellar atrophy, Microcephaly, Hypoplasi...	OMIM:616171
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Inguinal hernia, Short distal phalanx of toe, Bipa...	ORPHA:1292
Smith-Magenis Syndrome	Chronic otitis media, Delayed puberty, Joint stiffness, Microcephaly, EEG abnormality, Delayed er...	ORPHA:819
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short palpebral fissure, Short nose, Proximal placement of thumb, Telecanthus, Tracheomalacia, Wi...	OMIM:217980
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du...	ORPHA:1836
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology	ORPHA:1513
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Coffin-Siris Syndrome 7	Hyperactivity, Trigonocephaly, Bicuspid aortic valve, Patent foramen ovale, Compulsive behaviors,...	OMIM:618027
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Failure to thrive, Short humerus, S...	OMIM:607143
Weiss-Kruszka Syndrome	Proximal placement of thumb, Highly arched eyebrow, Microtia, Colpocephaly, Left ventricular hype...	OMIM:618619
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Moderate hearing impairment, Upper limb muscle weakness, Microce...	ORPHA:370010
Masa Syndrome	Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Hand clenching, Agenesis ...	ORPHA:2466
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Bilateral ptosis, Optic nerve hypoplasia, Type II lissencephaly, Sensorineural hearing impairment...	ORPHA:300570
Beck-Fahrner Syndrome	Brachycephaly, Periventricular leukomalacia, Protruding ear, Macrocephaly, Cardiomegaly, Facial h...	OMIM:618798
3Q13 Microdeletion Syndrome	Abnormality of the hand, Macrocephaly, Joint stiffness, Agenesis of corpus callosum, Epicanthus, ...	ORPHA:1621
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Cerebral atrophy, Short nose, Turricephaly, Abnormal septum pellucidum morphology,...	ORPHA:171839
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Decreased head circumference, Compulsive behaviors, Hearing impairmen...	ORPHA:500166
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachycephaly, Abnormal thumb morphology, Bilateral single transverse palmar creases, Abnormality...	ORPHA:2511
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Dandy-Walker malformation, Low-set ears, Aortic valve stenosis,...	OMIM:220210
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Hyperactivity, Trigonocephaly, Pulmonic stenosis, Microcephaly, Left ventricular hyp...	OMIM:619148
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Cerebellar dysplas...	OMIM:604213
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Abnormal mitral valve morphology, Micrognathia, Hernia of the abdom...	ORPHA:1277
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Wide anterior fontanel, Limitation of ...	ORPHA:3098
4Q21 Microdeletion Syndrome	Cerebellar hypoplasia, Tremor, Low-set ears, Micromelia, Synophrys, Long eyelashes, Frontal bossi...	ORPHA:238750
Potocki-Lupski Syndrome	Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Dental malocclusion, Hyperactivity,...	OMIM:610883
Combined Oxidative Phosphorylation Deficiency 50	Microcephaly, Short stature, Dysphagia, Partial agenesis of the corpus callosum, Generalized dyst...	OMIM:619025
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Rocker bottom foot, Broad 2nd toe, Abnormal pinna morphology, Ar...	ORPHA:1692
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Severe postnatal growth retardation, Progressive microcephaly,...	ORPHA:561854
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Pulmonic stenosis, Bi...	OMIM:610759
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bilateral ptosis, Highly arched eyebrow, Cerebellar atrophy, Microcephaly, Broad thumb, Umbilical...	ORPHA:329224
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Adenylosuccinate Lyase Deficiency	Brachycephaly, Short nose, Hypointensity of cerebral white matter on MRI, Low-set ears, Microceph...	ORPHA:46
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti...	OMIM:614039
Kleefstra Syndrome	Chronic otitis media, Highly arched eyebrow, Microcephaly, Bicuspid aortic valve, Hernia, Thicken...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Hypoplasia of the corpus callosum, Hyperactivity, Dysplastic pulmonary valve, Decr...	OMIM:300958
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Joint hypermobility, Cone-shaped epiphysis, Aggressive behavior, Short finger...	OMIM:618659
De Barsy Syndrome	Progressive microcephaly, Umbilical hernia, Intrauterine growth retardation, Adducted thumb, Ingu...	ORPHA:2962
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, EEG with abnormally slow frequencies, Focal T2 hyperintense basal ganglia lesion, ...	ORPHA:70472
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, 2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Medial flaring of the...	OMIM:617364
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Failure to thrive, Slender build...	OMIM:608154
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Macrocephaly, Hyperactivity, Hyperextensibility of the finger joints, Low-set ears, Co...	OMIM:309520
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microlissencephaly, Hypoplasia of the brainstem, Short stature...	OMIM:617090
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Flat acetabular roof, Limited knee extension, Joint hypermobility...	OMIM:618870
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Macrocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of th...	OMIM:618821
Usmani-Riazuddin Syndrome, Autosomal Recessive	Low-set ears, Conjunctival hyperemia, Posteriorly rotated ears, Agenesis of corpus callosum, Epic...	OMIM:619548
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Retrognathia, Ventricular hypertrophy, Cardiomyo...	OMIM:300280
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Low-set ears, Cerebellar atrophy,...	OMIM:618506
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Postnatal growth retardation, Abnormal thumb morphology, Broad e...	ORPHA:94065
Coffin-Siris Syndrome 5	Hypoplasia of the corpus callosum, Sandal gap, Dandy-Walker malformation, Long eyelashes, Microce...	OMIM:616938
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Periventricular leukomalacia, Cerebellar atrophy, Joint contracture, Agenesis of c...	OMIM:618324
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Polyhydramnios, Umbilical hernia	ORPHA:254534
Sub-Cortical Nodular Heterotopia	Hypoplasia of the corpus callosum, EEG with focal slow activity, Polymicrogyria, Abnormal basal g...	ORPHA:101029
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Low-set ears, Attention deficit hyperactivity diso...	ORPHA:251019
Apert Syndrome	Chronic otitis media, Limited elbow movement, Megalencephaly, Brachyturricephaly, Shallow orbits,...	OMIM:101200
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Micromelia, Flared, irregular rib ends, Short palm	ORPHA:168555
Cerebrofacioarticular Syndrome	Microtia, Pulmonic stenosis, Microcephaly, Abnormal heart morphology, Syndactyly, Cerebellar verm...	ORPHA:314679
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Optic atrophy, Retrognathia, Ce...	OMIM:620428
Potocki-Shaffer Syndrome	Brachycephaly, Short nose, Turricephaly, Telecanthus, Parietal foramina, Single transverse palmar...	OMIM:601224
Chromosome 20Q11-Q12 Deletion Syndrome	Tarsal osteovalgus, Camptodactyly, Hearing impairment, Frontal bossing, Brachydactyly, Intrauteri...	OMIM:614257
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Microcephaly, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, ...	OMIM:213980
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Hyperactivity, Sensorineural hearing impairment, Prominen...	OMIM:609625
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Irregular chondrocostal junctions, Hypopl...	OMIM:187760
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Short nose, Long eyelashes, Micr...	OMIM:618577
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Sensorineural hearing ...	OMIM:617519
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Failure to thrive, Shor...	ORPHA:420794
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Optic nerve hypoplasia, Patent foramen ovale,...	OMIM:609053
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Hypoplastic pel...	ORPHA:750
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Atrial septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defect, Ve...	OMIM:600987
Brachydactyly, Type A1	Distal symphalangism of hands, Short metacarpal, Slender metacarpals, Short distal phalanx of fin...	OMIM:112500
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Optic atrophy, Macrocephaly, Broad jaw, Increased bone mineral density, Facial pal...	ORPHA:178377
Kury-Isidor Syndrome	Brachycephaly, Rocker bottom foot, Recurrent otitis media, Proximal placement of thumb, Finger sy...	OMIM:619762
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly, Telecanthus, Cerebellar vermis hypoplasia, Low-set ears, Short statu...	ORPHA:1532
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Cerebral atrophy, Global brain atrophy, Short nose, Low-set ears, Cerebellar atrop...	OMIM:608776
11Q22.2Q22.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Clinodactyly of th...	ORPHA:444002
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Frank-Ter Haar Syndrome	Short long bone, Mitral valve prolapse, Patent foramen ovale, Camptodactyly, Osteoporosis, Short ...	OMIM:249420
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Hearing impairment, Agenesis of corpus callosum, Aplasia/Hypoplasia of...	ORPHA:401830
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Sensorineural hearing impairment, Contracture of the proximal interphalangeal...	OMIM:617201
Diastrophic Dysplasia	Abnormal clavicle morphology, Short finger, Abnormal metaphysis morphology, Proximal placement of...	ORPHA:628
Kabuki Syndrome 2	Highly arched eyebrow, Prominent fingertip pads, Pulmonic stenosis, Microcephaly, Joint hypermobi...	OMIM:300867
Trigonocephaly With Short Stature And Developmental Delay	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Inguinal hernia, Low-set ears, Trigo...	OMIM:314320
3C Syndrome	Abnormal hip bone morphology, Prominent occiput, Pulmonic stenosis, Aortic valve stenosis, Abnorm...	ORPHA:7
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly, Retrognathia, Microcephaly, Growth delay, Short stature, Epicanthus, Upslanted pal...	ORPHA:2528
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Congenital finger flexion contractures, Limited knee extension, Arachn...	OMIM:121050
17Q23.1Q23.2 Microdeletion Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Sandal gap, Highly arched eyebr...	ORPHA:261279
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Generalized amyotrophy, Limb tremor, Agenesis of corpus callosum, Apla...	ORPHA:401820
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Tibial torsion, Finger...	ORPHA:3320
Grant Syndrome	Abnormal cortical bone morphology, Narrow chest, Decreased skull ossification, Abnormal rib morph...	ORPHA:2097
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Transposition of the great arteries	OMIM:619910
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Tremor, Microcephaly, Broad thumb, Downslanted palpebral fissure...	OMIM:300978
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Cerebral calcification, Large iliac wing, Aortic valve stenosis, High iliac wing, S...	ORPHA:2780
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Prominent fingertip pads, Probst bundles, Mitral valve prolapse, Dysplastic tricuspid...	OMIM:612863
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Aplasia of the left hemidiaphragm, Ptosis, Failure to thrive, Dystonia, Agenesis o...	OMIM:618238
Hadziselimovic Syndrome	Hypoplasia of the corpus callosum, Ventricular hypertrophy, Low-set ears, Microcephaly, Ptosis, F...	OMIM:612946
20Q11.2 Microdeletion Syndrome	Camptodactyly, Hearing impairment, Frontal bossing, Brachydactyly, Intrauterine growth retardatio...	ORPHA:444051
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short palpebral fissure, Short nose, Recurrent otitis media, Single transverse palmar crease, Low...	OMIM:613604
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Hallux valgus, Single transverse palmar crease...	OMIM:615314
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Joubert Syndrome 10	Macrocephaly, Cerebellar vermis hypoplasia, Low-set ears, Polyphagia, Frequent temper tantrums, P...	OMIM:300804
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Global brain atrophy, Cerebellar atrophy, Microcephaly, Hypoplasia of...	OMIM:618276
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Abnormality of the orbital region, Optic nerve hypoplasia, Cerebellar atrophy, Abno...	ORPHA:468631
Christianson Syndrome	Adducted thumb, Cachexia, Mandibular prognathia, Cerebellar atrophy, Microcephaly, Cerebral corti...	ORPHA:85278
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Bilateral ptosis, Hypoplasia of the corpus callosum, Chiari type I malformation, R...	OMIM:618859
Lissencephaly 3	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Microcep...	OMIM:611603
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Situs inversus totalis, Polymicrogyria, Optic nerve hypoplasia, Decre...	OMIM:614833
Lessel-Kreienkamp Syndrome	Plagiocephaly, Hypoplastic helices, Clinodactyly of the 5th finger, Dental malocclusion, Patent f...	OMIM:619149
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Bilateral ptosis, Highly arched eyebrow, Microcephaly, Syndactyly, Enamel agenesis, Short stature...	OMIM:614701
Tetrasomy X	Clinodactyly of the 5th finger, Epicanthus, Radioulnar synostosis, Joint hypermobility, Hip dyspl...	ORPHA:9
Sandestig-Stefanova Syndrome	Rocker bottom foot, Retrognathia, Bilateral single transverse palmar creases, Highly arched eyebr...	OMIM:618804
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint...	ORPHA:1570
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality...	ORPHA:521308
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Optic atrophy, Low-set ears, Bilateral sensorineural hearing impairment, Frontal b...	OMIM:264470
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Optic atrophy, Clinodactyly of t...	OMIM:618672
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Decreased body weight, Microcephaly, Hy...	OMIM:617695
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Aortic valve stenosis, Microcephaly, Conotruncal defect, Abnormal cardiac ...	ORPHA:96147
Ritscher-Schinzel Syndrome 4	Limited knee extension, Impulsivity, Dysphagia, Joint hypermobility, Hip dislocation, Aggressive ...	OMIM:619435
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin corpus callosum, Highly arched eyebrow, Joint hypermobility, Short distal phalanx of finger,...	OMIM:619293
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Congenital diaphragmatic hernia, Turricephaly, Short nose, Highly a...	OMIM:618774
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Bilateral ptosis, Broad distal phalanx of finger, Highly arched eyebrow, 2-3 toe s...	ORPHA:404440
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Dolichocephaly, Tetralogy of Fallot, Brachydactyly, Intrauterine ...	ORPHA:3303
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
1Q21.1 Microdeletion Syndrome	Sensorineural hearing impairment, Microcephaly, Broad thumb, Intrauterine growth retardation, Joi...	ORPHA:250989
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Recurrent otitis media, Telecanthus, Hyperactivity, Microcephaly, Failure to thrive, Short statur...	OMIM:615286
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Long nose, Recurrent otitis media, Intention tremor, Short stature, Lower limb hyp...	OMIM:619995
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Cerebellar hemisphere hypoplasia, Cerebellar atrophy, Reduced cerebral white ma...	OMIM:615095
Melnick-Needles Syndrome	Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Narrow che...	OMIM:309350
Coffin-Siris Syndrome	Hyperactivity, Microcephaly, Abnormal heart morphology, Joint hypermobility, Intrauterine growth ...	ORPHA:1465
Immunodeficiency 110 With Lymphoproliferation	Patent foramen ovale, Secundum atrial septal defect	OMIM:614868
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Macrocephaly, Abnormal ilium morphology, Disproportionate short-l...	ORPHA:2655
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Sandal gap, Highly arched eyebrow, Microtia, Microcephaly, Bruxism, Aggressive beha...	OMIM:156200
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
Martsolf Syndrome 1	Slender ulna, Cardiomyopathy, Short metacarpal, Microcephaly, Broad femoral neck, Joint hypermobi...	OMIM:212720
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop...	ORPHA:950
Mosaic Variegated Aneuploidy Syndrome 1	Pulmonic stenosis, Microcephaly, Intrauterine growth retardation, Dandy-Walker malformation, Cere...	OMIM:257300
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Hypoplasia of the corpus callosum, Highly arched eyebrow, Cerebellar vermis hyp...	OMIM:615802
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Coloboma Of Macula-Brachydactyly Type B Syndrome	Broad thumb, Camptodactyly of finger, Short stature, Short distal phalanx of finger, Type B brach...	ORPHA:1471
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect	OMIM:619909
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Short nose, Rocker bottom foot, Triphalangeal thumb, Severe postnatal growth retar...	ORPHA:3078
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of pattern visual evoked potentials, Chiari type I malformation, Inguinal hernia, Abs...	ORPHA:166035
Noonan Syndrome 13	Head-banging, Highly arched eyebrow, Microcephaly, Mitral valve prolapse, Joint hypermobility, Ov...	OMIM:619087
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Thin corpus callosum, Macrocephaly, Inguinal hernia, Lo...	OMIM:618205
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Hypoplasia of the corpus callosum, Chiari type I malformation, Brachyturricephaly,...	OMIM:218350
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Microti...	OMIM:245600
Sotos Syndrome	Increased body weight, Joint hypermobility, Aggressive behavior, Advanced eruption of teeth, Musc...	OMIM:117550
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Fu...	OMIM:607323
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Microtia, Relative macrocephaly, Microcephaly, Prominent interph...	OMIM:618371
Acrocallosal Syndrome	Pulmonary valve defects, Prominent occiput, Abnormal pinna morphology, Bifid distal phalanx of th...	OMIM:200990
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Retrognathia, Sandal gap, Optic nerve hypoplasia, Mic...	ORPHA:261349
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Growth delay, Short stature, Brachydactyly, Short 5th finger, Atrial septal ...	ORPHA:52056
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Tongue thrusting, Short hallux, Intention tremor, Eczematoid derm...	OMIM:620393
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Microcephaly...	ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,...	OMIM:211369
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hypoplasia of the corpus callosum, Progressive microcephaly, Recurrent hand flapping, Cerebellar ...	OMIM:617862
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Progressive microcephaly, Broad thumb, Arachnodactyly, Wrist hypermobility, Joint hypermobility, ...	ORPHA:481152
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Short nose, Abnormal bone ossification, Abnormal femoral neck/head morphology, Abn...	ORPHA:163649
Cog7-Cdg	Postnatal growth retardation, Retrognathia, Progressive microcephaly, Abnormal finger morphology,...	ORPHA:79333
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Microcephaly, Intrauterine growth retardation, Absent antihelix, 2-3 toe cutaneous syndactyly, Sh...	OMIM:300998
Cooper-Jabs Syndrome	Brachycephaly, Congenital diaphragmatic hernia, Reduced bone mineral density, Low-set, posteriorl...	ORPHA:1488
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Sandal gap, Hyperactivity, Abnormal pinna morphology, Relative macrocephaly, Joi...	OMIM:300354
Familial Digital Arthropathy-Brachydactyly	Shortening of all distal phalanges of the toes, Short distal phalanx of finger, Short middle phal...	ORPHA:85169
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Short nose, Thickened helices, Clinodactyly of the 5th finger, Telecanthus, Highly...	OMIM:618828
Intellectual Developmental Disorder, Autosomal Dominant 65	Turricephaly, Clinodactyly of the 5th finger, Facial hypotonia, Single transverse palmar crease, ...	OMIM:619320
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Microcephaly, Contracture of the proximal interphalangeal joint of the 3rd finger, ...	ORPHA:464738
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Low-set, posteriorly rotated ears, Sandal gap, Micromelia, Short stature, Frontal bo...	ORPHA:1035
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th...	OMIM:142900
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Chronic otitis media, Hypoplasia of the corpus callosum, Protruding ear, Postnatal growth retarda...	ORPHA:480907
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent occiput, Highly arched eyebrow, Optic nerve hypopl...	OMIM:602535
Developmental And Epileptic Encephalopathy 88	Inferior cerebellar vermis hypoplasia, Hypsarrhythmia, Progressive microcephaly, Hypoplasia of th...	OMIM:618959
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Cerebellar cyst, Cerebellar hypoplasia, Dandy-Walker malformation, Type II li...	OMIM:613153
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Retrognathia, Cupped ear, Inguinal hernia, Joint contracture o...	OMIM:618914
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasia of the 3rd meta...	OMIM:181450
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Short nose, Turricephaly, Hyperactivity, Wide anterior fontanel, Cerebellar vermis...	OMIM:601853
Brunet-Wagner Neurodevelopmental Syndrome	Cerebral atrophy, Optic atrophy, Thin corpus callosum, Cerebellar atrophy, Increased skull ossifi...	OMIM:619690
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Telecanthus, Agenesis of corpus callosum, Narrow palpebral fissure, Blepharophimosis	OMIM:300073
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Agyria, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300067
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Conductive hearing impairment, Increased skull ossification, Agenesis of corpus...	ORPHA:85179
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Na...	ORPHA:1354
Hamamy Syndrome	Sensorineural hearing impairment, Syndactyly, Craniosynostosis, Long toe, Inguinal hernia, Neck p...	OMIM:611174
White Forelock With Malformations	Atrial septal defect	OMIM:277740
Stevenson-Carey Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Low-set ears, Camptodactyly, Downslanted palpeb...	OMIM:611961
14Q11.2 Microdeletion Syndrome	Short nose, Low-set, posteriorly rotated ears, Highly arched eyebrow, Sparse lateral eyebrow, Toe...	ORPHA:261120
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Joint sti...	ORPHA:1275
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Lateral ventricle dilatation, Bicuspid aortic valve, Aggressive behavi...	ORPHA:457279
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly, Thin corpus callosum, Hypsarrhythmia, Progressive microcephaly, Microcephaly, Cere...	OMIM:620240
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular...	OMIM:607941
Greenberg Dysplasia	Stillbirth, Large placenta, Absent or minimally ossified vertebral bodies, Supernumerary vertebra...	OMIM:215140
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Absent radius, Epiphyseal stippling of the hume...	ORPHA:56305
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy	OMIM:616866
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the corpus callosum, Abnormal temper tantrums, Cavum septum pellucidum, Polymicrogy...	ORPHA:300573
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Cerebral atrophy, Hyperactivity, Microcephaly, Failure to thrive, Growth delay, Ag...	OMIM:274270
Distal Duplication 5Q	Hypoplasia of the ulna, Short nose, Hypoplasia of the radius, Dextrocardia, Ventricular septal de...	ORPHA:96097
Imagawa-Matsumoto Syndrome	Macrocephaly, Polymicrogyria, Mandibular prognathia, Camptodactyly, Downslanted palpebral fissure...	OMIM:618786
Mosaic Variegated Aneuploidy Syndrome 2	Severe intrauterine growth retardation, Round ear, Microcephaly, Intrauterine growth retardation,...	OMIM:614114
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol...	OMIM:127300
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam...	OMIM:616602
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Large placenta, Polyhydramnios, Wrist flexion contracture, Camptodactyly, Flexion contracture of ...	ORPHA:254528
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m...	OMIM:602111
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Hearing impairment, Brachycephaly, Brachydactyly	ORPHA:35099
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Prominent occiput, Microtia, Femoral bowing, Bifid first metacarpal, Short m...	OMIM:210710
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:88630
Desmosterolosis	Retrognathia, Abnormal earlobe morphology, Microcephaly, Severe short stature, Intrauterine growt...	ORPHA:35107
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Kleefstra Syndrome 1	Brachycephaly, Tracheobronchomalacia, Abnormal pinna morphology, Macroglossia, Mandibular prognat...	OMIM:610253
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, S...	ORPHA:401935
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Hypoplasia of the corpus callosum, Single transverse palmar crease, Cerebral cortical atrophy, Fr...	OMIM:617820
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac...	ORPHA:3314
Intellectual Developmental Disorder, Autosomal Recessive 65	Atrial septal defect, Secundum atrial septal defect	OMIM:618109
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypoplasia of the corpus callosum, Plagiocephaly, Short nose, Optic atrophy, Overlapping fingers,...	OMIM:619383
Filippi Syndrome	Optic atrophy, Clinodactyly of the 5th toe, Bilateral single transverse palmar creases, Clinodact...	ORPHA:3255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ...	OMIM:300863
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Delayed eruption of teeth, Low-set ears, Long eyelashes, Short stature, Camptodacty...	ORPHA:2863
Chromosome 14Q11-Q22 Deletion Syndrome	Thin corpus callosum, Microcephaly, Mesomelia, Optic atrophy, Inguinal hernia, Patent foramen ova...	OMIM:613457
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:600081
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Broad distal phalanx of finger, Sandal gap, Low-set ears, Compulsive behaviors, Sy...	OMIM:615761
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormality of the orbital region, Osteolysis involving bones of the lower limbs, Mitral valve pr...	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
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Joint hypermobility, Intrauterine growth retardation, Primary microcephaly...	ORPHA:357058
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Low-set ears, Microcephaly, Frontal bossing, Downslanted palpebral fissure...	OMIM:619989
Lissencephaly 7 With Cerebellar Hypoplasia	Agyria, Microcephaly, Micrognathia, Neonatal death, Hand clenching, Agenesis of corpus callosum, ...	OMIM:616342
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:171703
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebral atrophy, Hypoplasia of the corpus callosum, Recurrent otitis media, Cerebellar vermis hy...	OMIM:618494
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Sensorineural hearing impairment, Aortic valve s...	OMIM:601808
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Chronic otitis media, Hypoplastic pubic ramus, Highly arched eye...	ORPHA:280
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Hyperactivity, Parietal foramina, Highly arched eye...	OMIM:180849
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Osteoporosis, Microcephaly, Frontal bossing, Short distal phalanx of finger, Brach...	ORPHA:2787
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Sensorineural hearing impairment, Hypoplastic iliac wing, Microcephaly, Intrauterin...	ORPHA:2637
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Hyperactivity, Hypsarrhythmia, Cerebral white matter atrophy, Tremor,...	ORPHA:599373
Frank-Ter Haar Syndrome	Acne, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Inguinal hernia, Delayed er...	ORPHA:137834
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Sandal gap, Optic nerve hypoplasia, Microcephaly, Umbilical hernia, Joint hypermobi...	OMIM:620330
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Telecanthus, Low-set ears, Epi...	OMIM:618974
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Palpebral edema, Short palpebral fissure, Telecanthus, Sensorineural hearin...	ORPHA:397709
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Retrognathia, Macrocephaly, Compulsive behaviors, Inflexible adherence to routines, D...	OMIM:613670
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Chronic otitis media, Retrognathia, Abnormal earlobe morphology,...	ORPHA:96121
Kaufman Oculocerebrofacial Syndrome	Abnormal pinna morphology, Microcephaly, Short stature, Carious teeth, Failure to thrive, Long pa...	OMIM:244450
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal middle ear morphology, Microtia, Underdeveloped tragus, Trigonocephaly, Atresia of the e...	ORPHA:79113
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, 2-3 toe cutaneous syndactyly, Macrocephaly, Clinodactyly of the 5th finger, Facial...	OMIM:300260
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Narrow chest, Pectus carinatum, Broad clavicles, Short clav...	OMIM:304150
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Hypomimic face, Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar at...	ORPHA:320385
Smith-Magenis syndrome	Hyperactivity, Short stature, Brachydactyly, Motor stereotypy, Self-mutilation	DECIPHER:8
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Optic atrophy, Turricephaly, Abnormal metacarpal morphology, Inflammatory abnormal...	ORPHA:93262
Codas Syndrome	Short nose, Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing i...	ORPHA:1458
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Progressive microcephaly, Short long bo...	ORPHA:79328
Hypophosphatasia	Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:436
Cleidorhizomelic Syndrome	Diaphyseal undertubulation, Bilateral single transverse palmar creases, Clinodactyly of the 5th f...	ORPHA:1453
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Focal polymicrogyria, Dysplastic pulmonary valve, Head-banging, Mandi...	OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Secondary microcephaly, Short palpebral fissure, Cerebellar hypoplasia, Prominent fingertip pads,...	OMIM:300986
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Proximal placement of thumb, Low-set ears, Ptosis, Downslanted palp...	OMIM:615433
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Abnormality of the palpebral fissures, Abnormal pinna morphology,...	OMIM:612001
Chopra-Amiel-Gordon Syndrome	Brachycephaly, Postnatal growth retardation, Macrocephaly, Almond-shaped palpebral fissure, Atten...	OMIM:619504
Emanuel Syndrome	Congenital diaphragmatic hernia, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Recurren...	OMIM:609029
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Decreased bo...	OMIM:618392
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Bilateral ptosis, Rocker bottom foot, Sensorineural hearing impa...	ORPHA:1272
Acromicric Dysplasia	Short nose, Decreased nerve conduction velocity, Abnormal femur morphology, Short metacarpal, Lon...	ORPHA:969
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Sandal gap, Microcephaly, Short stature, Intrauterine growth reta...	ORPHA:2515
Chilton-Okur-Chung Neurodevelopmental Syndrome	Bilateral ptosis, Highly arched eyebrow, Sensorineural hearing impairment, Septo-optic dysplasia,...	OMIM:619841
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab...	ORPHA:2319
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Congenital finger flexion contractures, Arachnodactyly,...	OMIM:615582
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Short nose, Turricephaly, Abnormal antihelix morphology, Finger syndactyly, Microt...	ORPHA:2145
16P13.11 Microdeletion Syndrome	Short nose, Sensorineural hearing impairment, EEG abnormality, Low-set ears, Compulsive behaviors...	ORPHA:261236
Nicolaides-Baraitser Syndrome	Short palpebral fissure, Broad distal phalanx of finger, Abnormal metacarpal morphology, Curly ey...	ORPHA:3051
2Q23.1 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Hyperactivity, Highly arched eyebrow, ...	ORPHA:228402
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl...	OMIM:112910
Trichohepatoneurodevelopmental Syndrome	Ectropion, Thin corpus callosum, Microcephaly, Recurrent pancreatitis, Joint hypermobility, Overl...	OMIM:618268
Severe Intellectual Disability And Progressive Spastic Paraplegia	Hypoplasia of the corpus callosum, Facial hypotonia, Cerebellar atrophy, Abnormal periventricular...	ORPHA:280763
Intellectual Developmental Disorder, Autosomal Recessive 74	Macrocephaly, EEG with polyspike wave complexes, Hyperactivity, Mandibular prognathia, Relative m...	OMIM:617169
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Abnormally ossified vertebrae, Abnormal rib morphology...	ORPHA:3035
3Mc Syndrome 1	Highly arched eyebrow, Microcephaly, Short 5th finger, Single interphalangeal crease of fifth fin...	OMIM:257920
Bardet-Biedl Syndrome 19	Hypoplasia of the corpus callosum, Y-shaped metacarpals, Partial atrioventricular canal defect, H...	OMIM:615996
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Periventricular white matter hyperintensities, Optic atrophy, Hyperactivity, Elbow flexion contra...	OMIM:619470
Mend Syndrome	Hyperactivity, Aortic valve stenosis, Abnormal heart morphology, Overlapping toe, Aggressive beha...	ORPHA:401973
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Absent extraocular muscles, Macrocephaly, Telecanthus, Sensorineural hearing impai...	OMIM:109120
Rubinstein-Taybi Syndrome	Highly arched eyebrow, Broad thumb, Microcephaly, Joint hypermobility, Keloids, Nasolacrimal duct...	ORPHA:783
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hypoplasia of the corpus callosum, Secondary microcephaly, Postnatal growth retardation, 2-3 toe ...	OMIM:620242
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Tremor, Short stature, Failure to thrive, Growth delay, Bicuspid aortic valve, Recurrent skin inf...	OMIM:617744
Cutis Laxa, Autosomal Recessive, Type Iie	Copper beaten skull, Clinodactyly of the 5th finger, Deep palmar crease, Inguinal hernia, Highly ...	OMIM:619451
Alopecia-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the eyebrow, Split hand, Microcephaly, Hearing impairment, Macrotia, Short ...	ORPHA:2850
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Optic atrophy, Dysplastic corpus callosum, Flexion contracture...	OMIM:613162
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Optic atrophy, Small for gestational age, Decreased body weight, Intrauterine growth retardation,...	OMIM:618346
Microhydranencephaly	Hydranencephaly, Athetosis, Microcephaly, Generalized amyotrophy, Macrotia, Short stature, Growth...	OMIM:605013
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1506
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Protruding ear, Recurrent otitis media, Severe failure to thrive, Clubbing of fingers, Single tra...	ORPHA:3304
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Optic atrophy, Plagiocephaly, Low-set, posteriorly rotated ears, Microcephaly, Ptosis, Short stat...	ORPHA:457193
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Broad finger, Abnormal pinna morphology, Overfolded helix, Pericardial effusion...	OMIM:614684
Sweeney-Cox Syndrome	Upper eyelid coloboma, Microtia, Short distal phalanx of finger, Patent foramen ovale, Hearing im...	OMIM:617746
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr...	OMIM:618719
Congenital Neuronal Ceroid Lipofuscinosis	Aplasia/Hypoplasia of the external ear, EEG with burst suppression, Low-set ears, Split hand, Cer...	ORPHA:168486
Schaaf-Yang Syndrome	Rocker bottom foot, Retrognathia, Impulsivity, Clinodactyly, Camptodactyly, Short stature, Fronta...	OMIM:615547
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Brachydactyly, Type A3	Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi...	OMIM:112700
Desbuquois Dysplasia 1	Sandal gap, Disproportionate short-limb short stature, Flat acetabular roof, Broad femoral neck, ...	OMIM:251450
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Recurrent fractures, Th...	OMIM:166210
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the...	OMIM:615297
Coffin-Lowry Syndrome	Sensorineural hearing impairment, Short metacarpal, Microcephaly, Abnormal mitral valve morpholog...	ORPHA:192
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Broad finger, Cerebellar vermis hypoplasia, Skin rash, Abnormal auditory evoked potentials, Long ...	OMIM:617523
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Inguinal hernia, Microcephaly, F...	OMIM:618603
Warburg Micro Syndrome 3	Brachycephaly, Hypoplasia of the corpus callosum, Secondary microcephaly, Short nose, Optic atrop...	OMIM:614222
Marden-Walker Syndrome	Retrognathia, Joint stiffness, Microcephaly, Arachnodactyly, Severe short stature, Intrauterine g...	ORPHA:2461
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Basal ganglia cysts, Tremor, Microcephaly, Frontal bossing, Ptosis, Dystonia, A...	OMIM:312170
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Macrocephaly, Wide anterior fontanel, Sensorineural ...	OMIM:222448
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Abnormal optic disc morphology, Microcephaly, Broad thumb, Bicuspid aorti...	ORPHA:508498
Rere-Related Neurodevelopmental Syndrome	Hypoplasia of the corpus callosum, Optic atrophy, Postnatal growth retardation, Broad eyebrow, Lo...	ORPHA:494344
Charcot-Marie-Tooth Disease, Type 4B1	Distal amyotrophy, Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve condu...	OMIM:601382
Terminal Osseous Dysplasia	Mesomelic arm shortening, Telecanthus, Abnormal hand bone ossification, Abnormal bone structure, ...	OMIM:300244
20P13 Microdeletion Syndrome	Polydactyly, Hypoplastic helices, Macrocephaly, Telecanthus, Highly arched eyebrow, Wide anterior...	ORPHA:313781
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Dandy-W...	OMIM:618736
Zechi-Ceide Syndrome	Short palpebral fissure, Atrial septal defect, Abnormal earlobe morphology, Sandal gap, Short met...	ORPHA:217017
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Macrocephaly, Genu valgum, Microtia, Short femur, Thick c...	OMIM:617798
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Mandibular prognathia, Decreased body weight, Microcephaly, Macrotia, Hypoplasia o...	ORPHA:93950
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ...	ORPHA:959
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Long nose, Oral-pharyngeal dysphagia, Bicoronal synostosis, Tracheo...	OMIM:619184
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Chronic otitis media, Hypoplasia of the corpus callosum, Macrocephaly, Small for g...	OMIM:609757
Baraitser-Winter Syndrome 2	Secondary microcephaly, Retrognathia, Telecanthus, Highly arched eyebrow, Abnormal pinna morpholo...	OMIM:614583
49,Xxxxy Syndrome	Chronic otitis media, Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Hip disloca...	ORPHA:96264
20P12.3 Microdeletion Syndrome	Macrocephaly, Microtia, Hypoplasia of the maxilla, Broad thumb, Downslanted palpebral fissures, S...	ORPHA:261295
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Macrocephaly, Low-set ears, Calcaneovalgus deformity, Camptodactyly, Ulnar deviati...	ORPHA:562528
Masa Syndrome	Macrocephaly, Microcephaly, Short stature, Agenesis of corpus callosum, Adducted thumb, Talipes e...	OMIM:303350
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Dextrocardia	ORPHA:2257
Abruzzo-Erickson Syndrome	Sensorineural hearing impairment, Short stature, Macrotia, Conductive hearing impairment, Short t...	ORPHA:921
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Retrognathia, Inguinal hernia, Cavum septum ...	OMIM:616449
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Proximal placement of thumb, Telecanthus, Progressive microcephaly, Microtia, Low-set...	OMIM:610536
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Proximal placement of thumb, Sensorineural hearing impairment, Skeletal muscle f...	ORPHA:456312
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Type II lissencephaly, Cardiomyopathy, Microcephaly, Olivopontocerebellar...	ORPHA:370959
Epilepsy, Progressive Myoclonic, 9	Generalized amyotrophy, Short thumb, Simplified gyral pattern, Agenesis of corpus callosum	OMIM:616540
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short nose, Retrognathia, Macrocephaly, Microtia, Tapered finger, Synophrys, Long eyelashes, Fron...	OMIM:620250
White-Sutton Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Sensorineural hearing impairment, Cerebellar atro...	ORPHA:468678
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Narrow chest, Small for gestational age, Recurrent fractures, Angulated h...	OMIM:616229
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Narrow chest, Broad distal phalanges ...	OMIM:218330
Gaba-Transaminase Deficiency	Retrognathia, Downslanted palpebral fissures, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:613163
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, J...	OMIM:618167
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ...	ORPHA:255182
7Q31 Microdeletion Syndrome	Clinodactyly of the 2nd finger, Hyperactivity, Prominent fingertip pads, Dysphagia, Intrauterine ...	ORPHA:251061
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Short nose, Macrocephaly, Clinodactyly of the 5th finger, Sandal ga...	OMIM:618430
Houge-Janssens Syndrome 3	Hypoplasia of the corpus callosum, Plagiocephaly, Muscular ventricular septal defect, Macrocephal...	OMIM:618354
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, Skeletal muscle hypertrophy, 2-3 toe syndactyly, Decreased body weight,...	OMIM:617164
Ravine Syndrome	Anorexia, Abnormal basal ganglia morphology, Decreased body weight, Abnormal auditory evoked pote...	ORPHA:99852
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly, Hypoplasia of the corpus callosum, Macrocephaly, Aggressive behavior, Facial hypot...	ORPHA:364028
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Secondary microcephaly, Retrognathia, Dandy-Walker malformation, Sensorineural hearing impairment...	OMIM:612938
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Genu valgum, Flared femoral metaphysis, ...	OMIM:184253
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect	OMIM:620194
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly, Hypsarrhythmia, Athetosis, Microcephaly, Failure to thrive, Short stature, Choreoa...	OMIM:309541
Distal Deletion 12Q	Hyperactivity, Microtia, Microcephaly, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger...	ORPHA:96149
Microcephaly 13, Primary, Autosomal Recessive	Metaphyseal sclerosis, Small for gestational age, Restrictive cardiomyopathy, Short foot, Microce...	OMIM:616051
Digital Arthropathy-Brachydactyly, Familial	Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha...	OMIM:606835
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Secundum atrial septal defect	OMIM:614300
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Abnormal pinna morphology, Brachyturricephaly, Shallow orbits, Microcepha...	OMIM:182212
Osteogenesis Imperfecta, Type Ix	Pectus carinatum, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Multip...	OMIM:259440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Megalencephaly, Progressive macrocephaly, Cavum septum pellucidum, Polymicrogyria, D...	OMIM:602501
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Sensorineural hearing impairment, Cerebellar atrophy, Colpocephaly, Intrauterine...	OMIM:614866
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Decreased body mass index, Long toe, Patent foramen ovale, Long pal...	OMIM:615668
2Q31.1 Microdeletion Syndrome	Sandal gap, Trigonocephaly, Microcephaly, Abnormal fibula morphology, Abnormal tibia morphology, ...	ORPHA:251014
Noonan Syndrome 11	Relative macrocephaly, Low-set ears, Bilateral sensorineural hearing impairment, Hypertrophic car...	OMIM:618499
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi...	OMIM:272150
Distal Deletion 3P	Brachycephaly, Abnormal vestibulo-ocular reflex, Atrioventricular canal defect, Clinodactyly of t...	ORPHA:1620
Neurogenic Arthrogryposis Multiplex Congenita	Rocker bottom foot, Plagiocephaly, Ankle flexion contracture, Elbow flexion contracture, Wrist fl...	ORPHA:1143
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cerebellar hypoplasia, Limb hypertonia, EEG with burst suppression, Hypsarrhythmia, Dysgenesis of...	OMIM:620316
Delpire-Mcneill Syndrome	Cortical dysplasia, Bilateral sensorineural hearing impairment, Dysphagia, Agenesis of corpus cal...	OMIM:619083
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter...	OMIM:113000
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Chromosome 3Q29 Deletion Syndrome	Clinodactyly of the 5th finger, Hyperactivity, Low-set ears, Microcephaly, Macrotia, Long fingers...	OMIM:609425
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Highly arched eyebro...	ORPHA:1001
Trisomy 1Q	Congenital diaphragmatic hernia, Macrocephaly, Low-set ears, Omphalocele, Camptodactyly of finger...	ORPHA:261344
Pontocerebellar Hypoplasia, Type 15	Dystonia, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypoplasi...	OMIM:619302
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Attention deficit hyperactivity disorder, Arachnodactyly, Ha...	ORPHA:261243
19P13.3 Microduplication Syndrome	Hyperactivity, Microtia, Microcephaly, Intrauterine growth retardation, Clinodactyly, Hip disloca...	ORPHA:447980
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Abnormal hip bone morphology, Inguinal hernia, Microcephaly, Cerebral cortical atrophy, Short sta...	ORPHA:2508
Warburg Micro Syndrome 4	Brachycephaly, Hypoplasia of the corpus callosum, Secondary microcephaly, Optic atrophy, Severe p...	OMIM:615663
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Microcephaly, Arachnodactyly, Intrauterine growth retardation, EEG abnormality, Severe ...	ORPHA:371364
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Microtia, Short long bone, Cerebellar atrophy, Microcephaly, Broad femo...	OMIM:611209
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Thin corpus callosum, Microcephaly, Colpocephaly, Intrauterine growth retardation, Coxa valga, Ag...	OMIM:619833
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Congenital Disorder Of Glycosylation, Type Iil	Cerebral atrophy, Hypoplasia of the corpus callosum, Optic atrophy, Abnormal cortical gyration, R...	OMIM:614576
Waardenburg Syndrome Type 3	Telecanthus, Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosi...	ORPHA:896
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal pinna morphology, Abnormal finger morph...	ORPHA:3472
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Abnormal cortical bone morphology, Wide anterior fontanel, Cranial asymmetry, D...	OMIM:614886
Intellectual Developmental Disorder, X-Linked 72	Macrocephaly, Hyperactivity, Short stature, Dolichocephaly, Motor stereotypy	OMIM:300271
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Disproportionate short-limb short stature, Intrauterine growth...	ORPHA:2772
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Inguinal hernia, Low-s...	OMIM:607131
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Abnormal diaphysis...	ORPHA:1842
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Microcephaly 26, Primary, Autosomal Dominant	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Short nose, Patent foramen ovale, ...	OMIM:619179
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull...	OMIM:200600
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Clinodactyly of the 5th finger, Dextrocardia, Dandy-Walker malformation, Impulsivit...	ORPHA:96092
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619121
C Syndrome	Radial deviation of finger, Dislocated radial head, Short metacarpal, Trigonocephaly, Microcephal...	OMIM:211750
Chromosome 16Q22 Deletion Syndrome	Postnatal growth retardation, Short palpebral fissure, Highly arched eyebrow, Wide anterior fonta...	OMIM:614541
20Q11.2 Microduplication Syndrome	Retrognathia, Palpebral edema, Microtia, Lingual dystonia, Severe intrauterine growth retardation...	ORPHA:363659
Cleidocranial Dysplasia	Chronic otitis media, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abn...	ORPHA:1452
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Delayed puberty, Pro...	ORPHA:199
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Dystonia, Simplified gyral pattern, Agenesis of corpus callosum, Cerebell...	OMIM:619301
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Abnormal aortic valve morphology, Macrocephaly, Dextroc...	ORPHA:261197
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Low-set ears, Long palpebral fissure, Frontal bossing, Short stature, Lateral vent...	OMIM:618330
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Li-Campeau Syndrome	Patellar hypoplasia, Telecanthus, Single transverse palmar crease, Patent foramen ovale, Low-set ...	OMIM:619189
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Calvarial osteosclerosis, Thin ribs, Decreased skull ossification, Thin long bone...	ORPHA:93324
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Highly arched eyebrow, Sensorineura...	OMIM:122470
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Short palpebral fissure, Hypoplasia of the corpus callosum, Abnormal cortical gyra...	OMIM:300968
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Abnormal pinna morphology, Microcephaly,...	OMIM:194190
Summitt Syndrome	Plagiocephaly, Short 4th metacarpal, Macrocephaly, Genu valgum, Clinodactyly of the 5th finger, F...	ORPHA:3210
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Protruding ear, Hyperactivity, Highly arched eyebrow, Sensorineural hearing impairm...	OMIM:618342
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Rocker bottom foot, Radial deviation of the hand, Facial palsy, Low-set ears, Shor...	OMIM:301041
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Joint stiffness, Conductive hearing impairment, Short...	ORPHA:3237
Developmental And Epileptic Encephalopathy 95	Long nose, Highly arched eyebrow, Cerebellar atrophy, Microcephaly, Umbilical hernia, Cardiomegal...	OMIM:618143
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Macrocephaly, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephaly, Motor stereo...	OMIM:618709
N-Acetylaspartate Deficiency	Secondary microcephaly, Inguinal hernia, Decreased body weight, Microcephaly, Short stature, Moto...	OMIM:614063
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Pulmonic stenosis, Short stature, Hand polydactyly, Atrial septal defect, Ventricula...	OMIM:249670
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Rhizomelia, Narrow chest, Coxa vara, Anterior rib cupping, Thoracic...	OMIM:602271
Frontoocular Syndrome	Short palpebral fissure, Low-set ears, Coronal craniosynostosis, Trigonocephaly, Ptosis, Pulmonic...	OMIM:605321
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Impulsivity, Microcephaly, Aggressive behavior, Hearing impairment, Failur...	ORPHA:500055
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas...	OMIM:274000
Keipert Syndrome	Macrocephaly, Broad distal phalanx of finger, Sensorineural hearing impairment, Low-set ears, Cam...	OMIM:301026
Opitz-Kaveggia Syndrome	Radial deviation of finger, Sensorineural hearing impairment, Relative macrocephaly, Prominent fi...	OMIM:305450
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Brachycephaly, Cerebral atrophy, Lambdoidal craniosynostosis, Macrocephaly, Short nos...	OMIM:615398
Laurence-Moon Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Fin...	ORPHA:2377
Cerebrotendinous Xanthomatosis	Abnormal femur morphology, Abnormal finger morphology, Cerebellar atrophy, Abnormal atrial septum...	ORPHA:909
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Short nose, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of ...	OMIM:614078
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis,...	OMIM:122860
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Al-Raqad Syndrome	Short nose, Sandal gap, Low-set ears, Microcephaly, Brachydactyly, Joint hypermobility, Atrial se...	OMIM:616459
Jacobsen Syndrome	Ectropion, Trigonocephaly, Aortic valve stenosis, Intrauterine growth retardation, Hip dislocatio...	ORPHA:2308
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Optic atrophy, Perimembranous ventricular septal defect, Inguina...	OMIM:618651
Baller-Gerold Syndrome	Brachycephaly, Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hy...	ORPHA:1225
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Hypoplasia of the corpus callosum, Short metatarsal, Telecanthus, Sandal gap, Cone-shaped epiphys...	OMIM:617102
Robinow Syndrome, Autosomal Recessive 2	Short nose, Ventral hernia, Sandal gap, Relative macrocephaly, Low-set ears, Prominent fingertip ...	OMIM:618529
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Disproportionate short-limb short statu...	ORPHA:175
Fontaine Progeroid Syndrome	Retrognathia, Turricephaly, Aplastic/hypoplastic lacrimal glands, Microcephaly, Abnormal heart mo...	OMIM:612289
Alazami Syndrome	Narrow palpebral fissure, Short palpebral fissure, Postnatal growth retardation, Abnormality of t...	ORPHA:319671
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Microcephaly, Abnormal heart morphology, Recurrent aspiration pn...	ORPHA:2745
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn...	ORPHA:2741
Chromosome 1P36 Deletion Syndrome, Distal	Asymmetry of the ears, Sensorineural hearing impairment, Microtia, Microcephaly, Dysphagia, Later...	OMIM:607872
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th finger, Wide anterior fontanel, Dandy-Walke...	OMIM:300963
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Temtamy Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Telecanthus, Low-set ears, Micrognathia, Dolichocep...	ORPHA:1777
Verheij Syndrome	Cerebral atrophy, Short nose, Retrognathia, Small for gestational age, Optic nerve hypoplasia, Tr...	OMIM:615583
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Low-set, posteriorly rotated ears, Abnormality of the elbow, Hypertrophic cardiomyopa...	ORPHA:2701
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Parietal foramina, Low-set ears, Compulsive behaviors, Attention de...	OMIM:617450
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Overlapping toe, Long toe, Patent foramen ovale, Posteriorly rotated ears,...	OMIM:618316
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, 10 pairs of ribs, Bell-shaped thorax, 11 pairs of ribs, Rib...	OMIM:117650
Desanto-Shinawi Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Agitation, Sensorineural hearing impairment, Ab...	OMIM:616708
Warburg Micro Syndrome 2	Brachycephaly, Hypoplasia of the corpus callosum, Secondary microcephaly, Global brain atrophy, S...	OMIM:614225
Trichothiodystrophy	Ectropion, Retrognathia, Cerebral dysmyelination, Clubbing, Cardiomyopathy, Microcephaly, Umbilic...	ORPHA:33364
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Cox...	OMIM:164900
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent foramen ovale, Low-set ...	OMIM:616789
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Micromelia, Micrognathia, ...	ORPHA:93329
Placental Insufficiency	Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, In...	ORPHA:439167
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Microcephaly, Intrauterine growth retardation, Overlapping toe, Abnormal cardiac se...	OMIM:613026
Intellectual Developmental Disorder, Autosomal Dominant 22	Short palpebral fissure, Long nose, Telecanthus, Highly arched eyebrow, Abnormal pinna morphology...	OMIM:612337
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Slender finger, Hypoplasia of the odontoid process,...	OMIM:609813
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Microtia, Joint stiffness, Intrauterine growth retardation, Clinodactyly, Aggressive behavior, Me...	OMIM:620494
Developmental And Epileptic Encephalopathy 66	Clinodactyly of the 5th finger, Dextrocardia, Cerebellar vermis hypoplasia, Synophrys, Downslante...	OMIM:618067
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation...	OMIM:218600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Decreased cranial base ossification, Rhizomelia, Narrow chest, Severe limb shortening, Metaphysea...	OMIM:151210
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Crouzon Syndrome	Brachycephaly, Optic atrophy, Turricephaly, Multiple suture craniosynostosis, Hearing impairment,...	ORPHA:207
Spinal Muscular Atrophy, Type I	Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr...	OMIM:253300
Isolated Corpus Callosum Agenesis	Dysphagia, Agenesis of corpus callosum	ORPHA:200
Leigh Syndrome	Sensorineural hearing impairment, Cerebellar atrophy, Dysphagia, Intrauterine growth retardation,...	ORPHA:506
Hall-Riggs Syndrome	Hypoplasia of the primary teeth, Osteoporosis, Microcephaly, Enamel hypoplasia, Failure to thrive...	OMIM:234250
Ruvalcaba Syndrome	Delayed puberty, Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Inguina...	ORPHA:3121
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Micromelia...	ORPHA:93298
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears...	ORPHA:1425
Codas Syndrome	Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal,...	OMIM:600373
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Rh...	ORPHA:1515
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Brachyturricephaly, Equinus calcaneus, Joint hypermobility, EEG abnormality, EEG with spike-wave ...	ORPHA:522077
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, Aplasia of the 1st metacarpal, Partial absence of thumb, Primary microcephaly, ...	ORPHA:476126
Catel-Manzke Syndrome	Adducted thumb, Genu valgum, Clinodactyly of the 5th finger, Pectus carinatum, Single transverse ...	OMIM:616145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Bowed humerus, Short long bone, Short humerus, Flexion contracture, Thoracic hypopl...	OMIM:619479
Alagille Syndrome	Brachycephaly, Long nose, Hypoplasia of the ulna, Delayed puberty, Clinodactyly of the 5th finger...	ORPHA:52
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Short nose, Retrognathia, Sparse eyelashes, Microcephaly, Cerebral cortical atroph...	OMIM:234050
Craniotelencephalic Dysplasia	Optic atrophy, Low-set, posteriorly rotated ears, Lissencephaly, Septo-optic dysplasia, Microceph...	ORPHA:1528
Lissencephaly 6 With Microcephaly	Hypoplasia of the corpus callosum, Limb hypertonia, Polymicrogyria, Microlissencephaly, Single tr...	OMIM:616212
48,Xxxy Syndrome	Chronic otitis media, Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Hip disloca...	ORPHA:96263
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Narrow chest, Abnormal rib morphology, Camptodactyly ...	ORPHA:1703
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Prominent occiput, Optic nerve hypoplasia, Sensorineural hearing ...	ORPHA:93932
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Low-set ears, Tubulointerstitial nephrit...	OMIM:616901
1Q44 Microdeletion Syndrome	Telecanthus, Biparietal narrowing, Synophrys, Microcephaly, Frontal bossing, Micrognathia, Short ...	ORPHA:238769
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Periventricular white matter hyperintensities, Megalencephaly, Macrocephaly, Facial hypotonia, Hi...	ORPHA:500533
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Short nose, Low-set, posteriorly rotated ears, Telecanthus, Bipa...	ORPHA:1915
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Dysphagia, Epicanthus, Intrauterine growth retardation, Cerebellar h...	OMIM:616276
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Cardiomyopathy, Microcephaly, Pulmonic stenosis, Arachnodactyly, Abnorm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Cardiomyopathy, Microcephaly, Pulmonic stenosis, Arachnodactyly, Abnorm...	ORPHA:363958
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Proximal placement of thumb, Highly arched eyebrow, Microcephaly, Arachnodactyly, U...	OMIM:613776
Desmosterolosis	Short nose, Macrocephaly, Cupped ear, Rhizomelia, Relative macrocephaly, Low-set ears, Total anom...	OMIM:602398
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Superior rectus atrophy, Facial palsy, Wrist flexion contractu...	OMIM:600638
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Aplasia of the mi...	OMIM:112800
Pseudo-Torch Syndrome 2	Secundum atrial septal defect	OMIM:617397
Primary Non-Essential Cutis Verticis Gyrata	Periventricular leukomalacia, Abnormality of pattern visual evoked potentials, Microcephaly, Atri...	ORPHA:357225
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Micrognathia, Umbilical hernia...	ORPHA:1918
Larsen-Like Syndrome	Brachycephaly, Recurrent otitis media, Macrocephaly, Clinodactyly of the 5th finger, Wide anterio...	OMIM:608545
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Thin corpus callosum, Ventricular hypertrophy, Underdeveloped tragus, Pulmonic sten...	OMIM:620654
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Thin corpus callosum, Highly arched eyebrow, Broad 2nd toe, Umbilical hernia, Clinodactyly, Trans...	OMIM:280000
Microcephaly, Amish Type	Optic atrophy, Limb hypertonia, Cerebellar vermis hypoplasia, Failure to thrive, Micrognathia, Fl...	OMIM:607196
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone...	ORPHA:239
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Macrocephaly, Short greater sciatic notch, Cloverleaf skull, Wide...	ORPHA:1860
Monosomy 18P	Brachycephaly, Protruding ear, Abnormal antihelix morphology, Microcephaly, Ptosis, Macrotia, Car...	ORPHA:1598
Prune1-Related Neurological Syndrome	Cerebral atrophy, Plagiocephaly, Optic atrophy, Thin corpus callosum, Low-set ears, Cerebellar at...	ORPHA:544469
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Synophr...	OMIM:620317
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Head-banging, Short distal phalanx of toe, Microcephaly, Bilateral triphalangeal thum...	OMIM:619356
Mmep Syndrome	Triphalangeal thumb, Mandibular prognathia, Microcephaly, Split foot, Ventricular septal defect	ORPHA:3434
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Limb hypertonia, Cerebellar vermis hypoplasia, Tapered finger, Multiple muscu...	OMIM:620070
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Small earlobe, Microtia,...	OMIM:216340
Multiple Epiphyseal Dysplasia Type 4	Abnormal earlobe morphology, Abnormal pinna morphology, Stiff ankle, Short metacarpal, Joint stif...	ORPHA:93307
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Severe intrauterine growth reta...	ORPHA:3404
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot	OMIM:612562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the corpus callosum, Muscular dystrophy, Cerebellar vermis hypoplasia, Calf muscle ...	OMIM:613155
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Cerebral atrophy, Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Dandy-Walke...	OMIM:220500
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Sparse eyelashes, Front...	OMIM:257850
Tarp Syndrome	Rocker bottom foot, Microtia, Intrauterine growth retardation, Clinodactyly, Optic atrophy, Hypop...	OMIM:311900
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly, Hypomimic face, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly,...	OMIM:615031
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Monosomy 13Q34	Abnormal earlobe morphology, Postaxial hand polydactyly, Pulmonic stenosis, Common atrium, Horizo...	ORPHA:96168
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Abnormality of the hand, Low-set, posteriorly rotated ears, Abnormal antihelix mor...	ORPHA:1387
Teebi Hypertelorism Syndrome 1	Bilateral ptosis, Short nose, Highly arched eyebrow, Upslanted palpebral fissure, Omphalocele, Co...	OMIM:145420
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Microcephaly, Abnormal heart morphology, Umbilical hernia, Joint hypermobi...	OMIM:617062
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Polymicrogyria, Thick corpus cal...	OMIM:603387
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Highly arched eyebrow, Abnormal heart morphology, Syndactyly, Hypoplasia o...	ORPHA:2754
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Clinodactyly, Fibular aplasia, Cerebellar vermis hypop...	OMIM:277170
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Agenesis of corpus callosum	OMIM:166990
Tatton-Brown-Rahman Syndrome	Narrow palpebral fissure, Macrocephaly, Chiari type I malformation, Encephalomalacia, Optic nerve...	OMIM:615879
Omodysplasia 1	Limited elbow extension, Limited knee flexion/extension, Limited elbow flexion/extension, Fibular...	OMIM:258315
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Microtia, Arachnodactyly, Craniofacial osteosclerosis, Fibular aplasi...	OMIM:300373
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Low-set, posteriorly rotated ears, Relative macrocephal...	ORPHA:254525
Oculodentodigital Dysplasia	Cerebral calcification, Abnormal pinna morphology, Umbilical hernia, Clinodactyly, Aplasia/Hypopl...	ORPHA:2710
Opitz Gbbb Syndrome	Inguinal hernia, Telecanthus, Cerebellar vermis hypoplasia, Wide anterior fontanel, Low-set ears,...	OMIM:300000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Thin ribs, Delayed ossifi...	OMIM:618395
Phelan-Mcdermid Syndrome	Palpebral edema, Abnormal periventricular white matter morphology, Microcephaly, Joint hypermobil...	OMIM:606232
Developmental And Epileptic Encephalopathy 58	Secondary microcephaly, Optic atrophy, Hypsarrhythmia, Motor stereotypy	OMIM:617830
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aganglionic megacolon, Cerebellar ...	ORPHA:171680
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect, Macrocephaly, Single transverse palmar crease, Notched primar...	OMIM:620062
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Prominent occiput, Decreased skull ossification, Aortic ...	ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Type II lissencephaly, Hypoplasia of the pyramidal tract, Pulmonic steno...	OMIM:253800
Megalencephaly	Macrocephaly, Genu valgum, Prominent occiput, Frontal bossing, Dolichocephaly, Atrial septal defe...	ORPHA:2477
Bohring-Opitz Syndrome	Retrognathia, Trigonocephaly, Lower limb hypertonia, Microcephaly, Intrauterine growth retardatio...	ORPHA:97297
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Highly arched eyebrow, Abnormal auton...	ORPHA:261318
15Q Overgrowth Syndrome	Retrognathia, Mixed hearing impairment, Turricephaly, Abnormal coccyx morphology, Arachnodactyly,...	ORPHA:314585
Fg Syndrome 3	Chiari type I malformation, Hyperactivity, Sensorineural hearing impairment, Relative macrocephal...	OMIM:300406
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Absent radius, Hand polydactyly, Short humerus, Proximal placement of thumb	OMIM:314390
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Femoral retroversion, Unilateral wrist flexion contracture, Cerebel...	OMIM:616531
Temtamy Syndrome	Highly arched eyebrow, Low-set ears, Short 2nd toe, Frontal bossing, Downslanted palpebral fissur...	OMIM:218340
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Del...	OMIM:241530
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly, Joint stiffness,...	ORPHA:1078
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal hip bone morphology, Joint stiffness, Microcephaly, Cer...	ORPHA:1166
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Interictal epileptiform activity...	OMIM:618862
Achondrogenesis Type 1A	Narrow chest, Short thorax, Short foot, Abnormal enchondral ossification, Micromelia, Multiple ri...	ORPHA:93299
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect	OMIM:619758
Macrocephaly-Developmental Delay Syndrome	Palpebral edema, Macrocephaly, Clinodactyly of the 5th finger, Mandibular prognathia, Frontal bos...	ORPHA:397612
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Joint stiffness, A...	OMIM:139210
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Trigonocephaly, Microcephaly, Craniosynostosis, Overlapping toe, Clinodactyly, Opt...	OMIM:309590
Ayme-Gripp Syndrome	Sensorineural hearing impairment, Microtia, Pericarditis, Craniofacial asymmetry, Camptodactyly, ...	OMIM:601088
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Low-set ears, Postaxial hand polydactyly, Duplication of phalanx of...	OMIM:617127
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Camptodactyly, Frontal bossing, Micrognathia, Failure to thrive, Sever...	OMIM:264180
Houge-Janssens Syndrome 2	Hypoplasia of the corpus callosum, Plagiocephaly, Facial hypotonia, Microcephaly, Postaxial polyd...	OMIM:616362
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy	OMIM:300425
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin corpus callosum, Clinodactyly of the 5th finger, Hyperactivity, Sensorineural hearing impair...	OMIM:620075
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Ectropion, Small earlobe, Short humerus, Dysphagia, Intrauterine growth retardation,...	OMIM:264090
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Adnp Syndrome	Bilateral ptosis, Focal white matter lesions, Sandal gap, Microtia, Abnormal finger morphology, T...	ORPHA:404448
Oculocerebrofacial Syndrome, Kaufman Type	Brachycephaly, Short palpebral fissure, Optic atrophy, Retrognathia, Telecanthus, Absent eyebrow,...	ORPHA:2707
Orofaciodigital Syndrome I	Radial deviation of finger, Microcephaly, Abnormal heart morphology, Syndactyly, Clinodactyly, Po...	OMIM:311200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Relative macrocephaly, Tibial bowing, Microcephaly, Broad thumb, Pr...	ORPHA:251028
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Protruding ear, Inguinal hernia, Bowing of the long bones, Congenital hip dislocation...	OMIM:612940
Genitopatellar Syndrome	Delayed eruption of teeth, Low-set ears, Hypoplastic ilia, Hypoplastic ischia, Microcephaly, Radi...	ORPHA:85201
Heart And Brain Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Limb hypertonia, Promi...	OMIM:616920
Nemaline Myopathy 9	Micrognathia, Arthrogryposis multiplex congenita, Ventricular septal defect, Nemaline bodies	OMIM:615731
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Hypoplasia of the corpus callosum, Short palpebral fissure, Short nose, Ventricular hypertrophy, ...	ORPHA:284169
9P13 Microdeletion Syndrome	Brachycephaly, Hand tremor, Recurrent otitis media, Clinodactyly of the 5th finger, Abnormality o...	ORPHA:324313
Jacobsen Syndrome	Trigonocephaly, Microcephaly, Intrauterine growth retardation, Nasolacrimal duct obstruction, Opt...	OMIM:147791
Brachydactyly, Type D	Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux	OMIM:113200
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Abnormal eyebrow morphology, Mesomelia, Umbilical her...	ORPHA:2496
Alkuraya-Kucinskas Syndrome	Adducted thumb, Overlapping toe, Clinodactyly, Dandy-Walker malformation, Camptodactyly, Cerebell...	OMIM:617822
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Sensorineural hearing impairment, Brachyturricephaly, Dysphagia, Talipes equi...	OMIM:214100
Acrocephalopolydactyly	Short nose, Microtia, Short long bone, Limb undergrowth, Epicanthus, Brachydactyly, Oxycephaly	ORPHA:221054
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:616515
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, 2-3 toe cutaneous syndactyly, Mandibular prognathia, Prominent fingertip pads, Hor...	OMIM:615828
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal hand metaphysis morphology, Joint stiffness, Abnormal metacarpophalangeal joint morpholo...	ORPHA:166011
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di...	OMIM:101800
Potocki-Shaffer Syndrome	Brachycephaly, Delayed puberty, Parietal foramina, Decreased skull ossification, Micrognathia, Ep...	ORPHA:52022
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Macrocephaly, Dextrocardia, Telecanthus, Low-set ears, Impulsivity...	OMIM:618929
Arthrogryposis, Distal, Type 2B2	Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B...	OMIM:618435
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Compulsive behaviors, Microcephaly, Cerebral cortical atro...	OMIM:266265
Autism	Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy	OMIM:209850
Autism, Susceptibility To, 8	Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy	OMIM:607373
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Rib ...	ORPHA:1988
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Turricephaly, Prominent occiput, Highly arched eyebrow, Sensorineural hearing impairment, Promine...	OMIM:612474
Noonan Syndrome 8	Large for gestational age, Palmoplantar cutis laxa, Relative macrocephaly, Low-set ears, Hypertro...	OMIM:615355
Shashi-Pena Syndrome	Retrognathia, Macrocephaly, Deep palmar crease, Cervical C2/C3 vertebral fusion, Limb hypertonia,...	OMIM:617190
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fonta...	OMIM:207410
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Hypoplasia of the corpus callosum, Plagiocephaly, Facial hypotonia, Cerebellar vermis hypoplasia,...	OMIM:614563
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Short finger, Swan neck-like deformities of the fingers, Single transverse palmar ...	OMIM:615656
Acrofrontofacionasal Dysostosis 2	Brachycephaly, Wide anterior fontanel, Low-set ears, Microcephaly, Ptosis, Downslanted palpebral ...	OMIM:239710
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasia of the brainst...	OMIM:615771
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Cockayne Syndrome B	Square pelvis bone, Sensorineural hearing impairment, Abnormal pinna morphology, Hypoplastic ilia...	OMIM:133540
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Camptodactyly, Atopic dermatitis, Pulmonic stenosis, Overlapping toe, ...	OMIM:614262
Noonan Syndrome 7	Large for gestational age, Macrocephaly, Deep palmar crease, Cubitus valgus, Low-set ears, Hypert...	OMIM:613706
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Perimembranous ventricular septal defect, Small for gestational age, ...	OMIM:620135
Maternal Phenylketonuria	Hypoplasia of the corpus callosum, Bilateral ptosis, Hypoplastic helices, Hyperactivity, Intraute...	ORPHA:2209
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Cerebral atrophy, Hypoplasia of the corpus callosum, Retrognathia, Polymicrogyria, Low-set ears, ...	OMIM:620156
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Abnormal hip bone morphology, S...	ORPHA:1507
Raine Syndrome	Mixed hearing impairment, Subperiosteal bone formation, Highly arched eyebrow, Cerebral calcifica...	OMIM:259775
48,Xxyy Syndrome	Chronic otitis media, Joint hypermobility, Taurodontia, Inguinal hernia, Broad jaw, Tremor, Cario...	ORPHA:10
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the...	ORPHA:1908
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:601071
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Pulmonic stenosis, Palpebral thickening, Optic nerve dysplasia, Deep palma...	OMIM:115150
Waardenburg Syndrome, Type 3	Aganglionic megacolon, Telecanthus, Sensorineural hearing impairment, Mandibular prognathia, Scap...	OMIM:148820
Meckel Syndrome 12	Rocker bottom foot, Low-set ears, Cerebral hypoplasia, Microcephaly, Micrognathia, Antecubital pt...	OMIM:616258
Glycine Encephalopathy 1	Hyperactivity, Impulsivity, Agenesis of corpus callosum, Restlessness, Aggressive behavior	OMIM:605899
Combined Oxidative Phosphorylation Deficiency 2	Low-set ears, Neonatal death, Brachydactyly, Agenesis of corpus callosum, Small for gestational age	OMIM:610498
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Macrocephaly, Cloverleaf skull, Limitation of joint mobility, Mic...	ORPHA:93274
Frontonasal Dysplasia 2	Brachycephaly, Short palpebral fissure, Hypoplasia of the corpus callosum, Telecanthus, Cerebella...	OMIM:613451
Diamond-Blackfan Anemia 21	Sandal gap, Microcephaly, Horizontal eyebrow, Short stature, Downslanted palpebral fissures, Secu...	OMIM:620072
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral atrophy, Hypoplasia of the corpus callosum, Ankle flexion contracture, Global brain atro...	OMIM:617802
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology, Hypoplasia of the frontal lobes, Microcephaly, Growth delay, S...	ORPHA:2512
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Short palpebral fissure, Short nose, Highly arched ey...	ORPHA:2083
Trisomy 18	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Anencephaly, Abnorma...	ORPHA:3380
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, ...	OMIM:173800
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Carpal bone hypoplasia, Cone-shaped epiphyses of the phalanges of t...	OMIM:184252
Trisomy X	Clinodactyly of the 5th finger, Tremor, Attention deficit hyperactivity disorder, Epicanthus, Hip...	ORPHA:3375
Spinocerebellar Ataxia, Autosomal Recessive 20	Short palpebral fissure, Delayed eruption of teeth, Sensorineural hearing impairment, Relative ma...	OMIM:616354
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Lipoma, Cortical dysplasia, Dandy-Walke...	OMIM:613001
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Hyperactivity, Sensorineural hearing impairment, Patent foramen ovale, C...	ORPHA:209905
Carpenter Syndrome 2	Retrognathia, Highly arched eyebrow, Sensorineural hearing impairment, Trigonocephaly, Broad thum...	OMIM:614976
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Temple-Baraitser Syndrome	Pseudoepiphysis of the thumb, Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Long h...	OMIM:611816
Developmental And Epileptic Encephalopathy 64	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Paroxysmal dystonia, Limb hypertonia, H...	OMIM:618004
Koolen-De Vries Syndrome	Hyperactivity, Prominent fingertip pads, Impulsivity, Pulmonic stenosis, Microcephaly, Bicuspid a...	OMIM:610443
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Abnormal fibula morphology, Bilateral single transverse palmar creases, Tarsal syn...	ORPHA:2633
Sonoda Syndrome	Short stature, Ventricular septal defect, High axial triradius	OMIM:270460
Hemimegalencephaly	Optic atrophy, Hyperintensity of cerebral white matter on MRI, Macrocephaly, EEG with polyspike w...	ORPHA:99802
Congenital Syphilis	Periostitis, Large placenta, Hydrops fetalis, Synovitis, Premature birth, Intrauterine growth ret...	ORPHA:499009
Zaki Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Broad distal phalanx of finge...	OMIM:619648
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly, Secondary microcephaly, Aggressive behavior	OMIM:309530
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Head titubation, Dystonia, Tetralogy of Fallot, Agenesis of corpus callosum, E...	OMIM:250620
Brachydactyly, Type A1, B	Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact...	OMIM:607004
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Aplasi...	ORPHA:3409
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Inguinal hernia, Distal amyotrophy, Athetosis, Low-set ears, Congenital hip disloc...	OMIM:219150
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum...	OMIM:619737
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hypoplasia of the corpus callosum, Postnatal growth retardation, Reduced bone mineral density, Jo...	OMIM:620210
Acrofrontofacionasal Dysostosis	Brachycephaly, Micromelia, Cerebral cortical atrophy, Camptodactyly of finger, Downslanted palpeb...	ORPHA:1784
Coffin-Siris Syndrome 4	Short phalanx of the 5th toe, Dandy-Walker malformation, Long eyelashes, Pulmonic stenosis, Ptosi...	OMIM:614609
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Agitation, Aganglionic megacolon, Tapered finger, Abnormal autonomic nervous system p...	OMIM:613870
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Abnormality of the palmar creases, Sensorineural hearing impairment, Pate...	OMIM:618652
Cri-Du-Chat Syndrome	Hyperactivity, Abnormal pinna morphology, Short metacarpal, Microcephaly, Syndactyly, Aggressive ...	OMIM:123450
19P13.13 Microdeletion Syndrome	Brachycephaly, Short nose, Optic atrophy, Macrocephaly, Chiari type I malformation, Sandal gap, O...	ORPHA:357001
Myopathy With Extrapyramidal Signs	Optic atrophy, Hyperactivity, Calf muscle hypertrophy, Hypoplastic anterior limbs of the internal...	OMIM:615673
Xq28 (MECP2) duplication	Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Macrotia, Failure to thrive, Dysp...	DECIPHER:45
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect	OMIM:619951
Intellectual Developmental Disorder, Autosomal Dominant 59	Macrocephaly, Facial hypotonia, Highly arched eyebrow, Low-set ears, Short foot, Long palpebral f...	OMIM:618522
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Single transverse palmar cr...	OMIM:227270
Burn-Mckeown Syndrome	Hypomimic face, Atrial septal defect, Short palpebral fissure, Inguinal hernia, Mandibular progna...	OMIM:608572
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Thin corpus callosum, Clinodactyly of the 5th finger, Facial hypotonia, Cerebellar...	OMIM:617807
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Compulsive behaviors, Microcephaly, Ptosis, Downslanted palp...	ORPHA:1727
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Long nose, Perimembranous ventricular septal defect, Muscular ventric...	ORPHA:363444
Gabriele-De Vries Syndrome	Sandal gap, Intrauterine growth retardation, Craniosynostosis, Oral-pharyngeal dysphagia, Patent ...	ORPHA:506358
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Hyperactivity, Sensorineural hearing im...	OMIM:235510
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Interictal epileptiform activity, Mandi...	OMIM:620001
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Relativ...	OMIM:184260
Down Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Sandal gap, Round ear, Umbilical her...	ORPHA:870
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Sensorineural hearing impairment, Skin rash, Microcephaly, Short ...	ORPHA:290
Zellweger Syndrome	Optic atrophy, Macrocephaly, Epiphyseal stippling, Wide anterior fontanel, Polymicrogyria, Sensor...	ORPHA:912
Intellectual Developmental Disorder, Autosomal Recessive 41	Retrognathia, Macrocephaly, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fing...	OMIM:615637
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac...	ORPHA:508533
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased...	OMIM:244460
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, 2-4 toe cutaneous syndactyly, Musc...	OMIM:618569
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Microtia, Tibial bowing, Microcephaly, Short distal phalanx...	OMIM:210720
Arboleda-Tham Syndrome	Chronic otitis media, Sandal gap, Highly arched eyebrow, Lower limb amyotrophy, Small earlobe, Un...	OMIM:616268
Acromesomelic Dysplasia, Maroteaux Type	Disproportionate short stature, Bowing of the long bones, Joint stiffness, Frontal bossing, Dolic...	ORPHA:40
Osteogenesis Imperfecta, Type Viii	Osteopenia, Barrel-shaped chest, Slender long bone, Femoral retroversion, Wide anterior fontanel,...	OMIM:610915
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Short nose, Aganglionic megacolon, Anterior plagiocephaly, Long palpebral fissure,...	OMIM:614749
Pontocerebellar Hypoplasia, Type 8	Hypoplasia of the corpus callosum, Secondary microcephaly, Patent foramen ovale, Ventricular sept...	OMIM:614961
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Hypoplastic iliac wing, Microtia, Short long bone, Sho...	OMIM:611717
Intellectual Developmental Disorder With Autism And Speech Delay	Joint hypermobility, Pachygyria, Motor stereotypy	OMIM:606053
Trisomy 8P	Retrognathia, Clinodactyly of the 5th toe, Abnormal middle ear morphology, Clinodactyly of the 2n...	ORPHA:264450
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Short palpebral fissure, Recurrent otitis media, Hemidystonia, Torticollis, Tremor...	OMIM:619680
Anauxetic Dysplasia 2	Cubitus valgus, Relative macrocephaly, Hypoplasia of the femoral head, Coxa vara, Hypoplastic ili...	OMIM:617396
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly, Microcephaly, Downslanted palpebral fissures, Motor tics, Intrauterine growth reta...	OMIM:620688
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Palpebral edema, Protruding ear, Abnormal antihelix morphology, Mandibular prognathia...	ORPHA:261144
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Micr...	ORPHA:193
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Telecanthus, Low-set ears, Coronal craniosynostosis, Frontal bossing, Agenesis of ...	ORPHA:228390
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Thin ribs, Short ribs, Femoral b...	OMIM:620076
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Osteopenia, Global brain atrophy, Multifocal epileptiform discharges, EEG with spi...	ORPHA:369837
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly, Mandibular prognathia, Postnatal growth retardation	OMIM:309545
Schuurs-Hoeijmakers Syndrome	Cavum septum pellucidum, Highly arched eyebrow, Abnormal cardiac septum morphology, Patent forame...	OMIM:615009
Hamel Cerebro-Palato-Cardiac Syndrome	Microcephaly, Arachnodactyly, Micrognathia, Short stature, Atrial septal defect, Wide nasal bridg...	ORPHA:93946
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hyperactivity, Microcephaly, Lower limb hypertonia, Short distal phalanx of finger, Aggressive be...	OMIM:300534
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, Low-set ears, Postaxial hand polydactyly, Microcephaly, Fronta...	OMIM:174300
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Cerebral atrophy, Secondary microcephaly, Failure to thrive, Joint contracture, Motor stereotypy	OMIM:617393
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Truncus arteriosus, Joint stiffness, Microcephaly, Mi...	ORPHA:2516
Prader-Willi Syndrome Due To Translocation	Retrognathia, Head-banging, Microcephaly, Abnormal heart morphology, Lateral ventricle dilatation...	ORPHA:177907
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Abnormal basal ganglia morphology, Hypoplasia of the brainstem, Abnormal bo...	ORPHA:86822
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Mesomelia, Syndactyly, Hypoplastic right heart, Clinodactyly, Patent foramen ovale, ...	OMIM:616894
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Hyperactivity, Sensorineural hearing impairment, Sev...	ORPHA:73272
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Cubitus valgus, Microcephaly, Camptodactyly of finger, Short stature, Flexion...	ORPHA:261519
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Hypsarrhythmia, Pulmonic stenosis, Microcephaly, Failure to thrive, Absent thumb, ...	OMIM:619239
Gm1 Gangliosidosis	Cardiomyopathy, Joint stiffness, Abnormal heart morphology, Dysphagia, Abnormal epiphysis morphol...	ORPHA:354
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Macrocephaly, Wide anterior fontanel, Sensorineural ...	ORPHA:2143
Moebius Syndrome	Radial deviation of finger, Abnormal pinna morphology, Facial diplegia, Aplasia/Hypoplasia involv...	OMIM:157900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology, Shallow orbits, Microcephaly, Abnormal heart morpho...	ORPHA:453499
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Compulsive behaviors, Proportionate short stature, Motor stereotypy, Attent...	OMIM:617044
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual...	OMIM:125250
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Optic atrophy, Trigonocephaly, Microcephaly, Dystonia, Epicanthus, Partial agenesis of the corpus...	OMIM:245349
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Mogs-Cdg	Hypoplasia of the corpus callosum, Short palpebral fissure, Optic atrophy, Retrognathia, Prominen...	ORPHA:79330
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Joint stiffness, Metatarsus adductu...	ORPHA:2249
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Bardet-Biedl Syndrome 5	Polydactyly, Obesity, Syndactyly, Brachydactyly	OMIM:615983
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Trident hand, Rhizomelia, He...	ORPHA:15
Acrofacial Dysostosis, Catania Type	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Single transverse palmar crease,...	OMIM:101805
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Microtia, Bipariet...	ORPHA:1770
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short long bone, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili...	OMIM:618019
Developmental And Epileptic Encephalopathy 107	Microcephaly, Progressive microcephaly, Motor stereotypy	OMIM:620033
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebral atrophy, Hypoplasia of the corpus callosum, Irregular epiphyses, Sensorineural hearing i...	OMIM:619260
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Micro...	OMIM:268310
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Microcephaly, Syndactyly, Umbilica...	OMIM:618164
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormality of t...	ORPHA:1005
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Polymicrogyria, 2-3 toe syndactyly, Low-set ears, Postaxial hand...	OMIM:264480
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Incisor macrodontia, Low-set ears, Long eyelashes, Microcephaly,...	OMIM:615502
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Short metatarsal, Short metacarpal, Synophrys, Broad thumb, Frontal bossing, Mi...	ORPHA:1278
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Macrocephaly, Fused cervical vertebrae, Short clavicles, Low-set ears, F...	OMIM:617159
Spastic Paraplegia 11, Autosomal Recessive	Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Cerebral cor...	OMIM:604360
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Macrocephaly, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ...	ORPHA:52055
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Retrognathia, Sandal gap, Dislocated radial head, Abnormal pinna...	OMIM:135900
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Megalencephaly, Macrocephaly, Telecanthus, Polymicrogyria, Postaxial hand polydactyly, Ventricula...	ORPHA:83473
Baker-Gordon Syndrome	Short nose, Dystonia, Epicanthus, Motor stereotypy, Joint hypermobility, Self-injurious behavior,...	OMIM:618218
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Hypoplasia of the corpus callosum, Long nose, Global brain atrophy, Retrognathia, Broad eyebrow, ...	ORPHA:457351
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly, Abnor...	ORPHA:508542
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l...	OMIM:261540
Cerebellar-Facial-Dental Syndrome	S-shaped palpebral fissures, Inferior cerebellar vermis hypoplasia, Microcephaly, Severe short st...	ORPHA:444072
Cockayne Syndrome A	Square pelvis bone, Sensorineural hearing impairment, Abnormal pinna morphology, Hypoplastic ilia...	OMIM:216400
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Long nose, Short nose, Medial flaring of the eyebrow, Clinodacty...	OMIM:617602
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebral atrophy, Hypoplasia of the corpus callosum, Retrognathia, Thin corpus callosum, Small ep...	OMIM:620269
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, Mixed hearing impairment, Macrocephaly, Sensorineural hearing impairment, Low-set e...	OMIM:300472
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Sensorineural hearing impairment, Shallow orbits, Microcephaly, Abnormal ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Sensorineural hearing impairment, Shallow orbits, Microcephaly, Abnormal ...	ORPHA:352665
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Recurrent otitis media, Macrocephaly, Upper limb undergrowth, ...	OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Microcephaly, Cerebral cor...	OMIM:614104
Diastrophic Dysplasia	Neonatal short-limb short stature, Short finger, Genu valgum, Cystic lesions of the pinnae, Irreg...	OMIM:222600
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Abnorm...	ORPHA:363417
Birk-Landau-Perez Syndrome	Optic atrophy, Limb hypertonia, Facial hypotonia, Progressive sensorineural hearing impairment, L...	OMIM:617595
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Microcephaly, Inappropriate laughter, Dystonia, Motor stereotypy, EEG abnormality, Bruxism, Aggre...	OMIM:619150
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hyperactivity, Cerebellar atrophy, Microcephaly, Colpocephaly, Intra...	OMIM:270400
20Q13.33 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Low-set, posteriorly rotated ears, Hip dislocation, Facial hyp...	ORPHA:261311
Hallermann-Streiff Syndrome	Hyperactivity, Microcephaly, Thin calvarium, Joint hypermobility, Decreased number of sternal oss...	OMIM:234100
Gabriele-De Vries Syndrome	Sandal gap, Lateral ventricle dilatation, Intrauterine growth retardation, Patent foramen ovale, ...	OMIM:617557
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Global brain atrophy, Oromandibular ...	ORPHA:52368
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short nose, Wide distal femoral metaphysis, Delayed epiphyseal ossi...	OMIM:613320
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy...	ORPHA:166016
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr...	OMIM:617895
Joubert Syndrome 3	Thin corpus callosum, Elongated superior cerebellar peduncle, Highly arched eyebrow, Cerebellar v...	OMIM:608629
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Progressive microcephaly, Ab...	ORPHA:79324
Noonan Syndrome 5	Large for gestational age, Macrocephaly, Cubitus valgus, Mandibular prognathia, Low-set ears, Hyp...	OMIM:611553
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Synophrys, Ptosi...	ORPHA:1390
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot	OMIM:125520
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Atelis Syndrome 1	Microtia, Eczematoid dermatitis, Bronchiectasis, Carious teeth, Downslanted palpebral fissures, A...	OMIM:620184
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Short metacarpal, Hypoplasia of the femoral head, Epiphyseal dysp...	OMIM:226900
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microtia, Nas...	OMIM:613458
Weill-Marchesani Syndrome 1	Brachycephaly, Broad phalanges of the hand, Broad skull, Broad metatarsal, Shallow orbits, Joint ...	OMIM:277600
Dysostosis, Stanescu Type	Brachycephaly, Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental en...	ORPHA:1798
Meier-Gorlin Syndrome 7	Dislocated radial head, Progressive microcephaly, Sensorineural hearing impairment, Microtia, Clu...	OMIM:617063
Chromosome 9P Deletion Syndrome	Retrognathia, Clinodactyly of the 5th toe, Sandal gap, Highly arched eyebrow, Trigonocephaly, Lon...	OMIM:158170
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:608227
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Brachydactyly, Abnormal epiphysis morphology, Abnormal rib morph...	ORPHA:2643
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Dextrocardia, Low-set, posteriorly rotated ears, Highly arched eyebrow, Po...	ORPHA:220493
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia...	OMIM:618325
Saethre-Chotzen Syndrome	Long nose, Parietal foramina, Microtia, Shallow orbits, Prominent crus of helix, Abnormal heart m...	OMIM:101400
Degcags Syndrome	Retrognathia, Sensorineural hearing impairment, Pulmonic stenosis, Choking episodes, Abnormal eye...	OMIM:619488
Adenylosuccinase Deficiency	Brachycephaly, Cerebral atrophy, Short nose, Hyperactivity, Low-set ears, Cerebellar atrophy, Mic...	OMIM:103050
Erythrokeratodermia Variabilis	Skin rash, Microcephaly, Hearing impairment, Patchy palmoplantar hyperkeratosis, Short stature, B...	ORPHA:317
Monosomy 18Q	Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pulmonary valve, Aortic valve...	ORPHA:1600
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Macrocephaly, Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Epiphyseal stippling	OMIM:614876
Weill-Marchesani Syndrome	Limitation of joint mobility, Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thum...	ORPHA:3449
Vici Syndrome	Optic atrophy, Sensorineural hearing impairment, Cardiomyopathy, Joint stiffness, Hypoplasia of t...	ORPHA:1493
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Thin ribs, Decreased body weight, Decreased calvarial ossification, Micrognath...	OMIM:618265
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Patent foramen ovale, Ventricular septal defect, Low-set ears, Microcephaly...	OMIM:208085
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Broad skull, Broad metatarsal, Shallow orbits, Joint stiffness, Pulmo...	OMIM:608328
Menkes Disease	Brachycephaly, Hypsarrhythmia, Metaphyseal spurs, Osteoporosis, Microcephaly, Short stature, Meta...	OMIM:309400
Galloway-Mowat Syndrome 6	Clinodactyly of the 5th finger, Cerebellar vermis atrophy, Decreased body weight, Cerebellar atro...	OMIM:618347
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Hallux valgus, Anteverted ears, Synophrys, Microcephaly, Macrotia, Short stature, ...	OMIM:615541
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Inferior cereb...	OMIM:615485
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati...	OMIM:264700
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Umbilical hernia, Joint hypermobility, Axillary pterygium, Short...	OMIM:304110
Pycnodysostosis	Cerebral dysmyelination, Disproportionate short-limb short stature, Hypoplastic iliac wing, Mesom...	ORPHA:763
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Sensorineural hearing impairment, Short long bone, Metaphyseal irregularity, Joint hypermobility,...	OMIM:616007
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the maxilla,...	ORPHA:306542
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Low-set ears, Postaxial hand polydactyly, Microcephaly, Downslan...	ORPHA:2075
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Mandibular prognathia, Short stature, Frontal bossing, Broad hallux, Short th...	OMIM:165800
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrocephaly, Low-set ears, Short metacarpal, Sparse eyelashes, Frontal bossing, Downslanted palp...	OMIM:250410
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Highly arched eyebrow, S...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Highly arched eyebrow, S...	ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Proximal	Pulmonic stenosis, Microcephaly, Bicuspid aortic valve, Clinodactyly, Coronary artery fistula, Pa...	OMIM:619343
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Dysgyria, Patent foramen ovale, Tremor, C...	OMIM:620327
Lenz-Majewski Hyperostotic Dwarfism	Sensorineural hearing impairment, Relative macrocephaly, Microcephaly, Syndactyly, Joint hypermob...	OMIM:151050
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect, Abnormal hand morphology	OMIM:122850
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Intention tremor, Synophrys, Dystonia, Abnormality of the distal ph...	ORPHA:453521
1P36 Deletion Syndrome	Sensorineural hearing impairment, Microtia, Microcephaly, Joint stiffness, Abnormal eyebrow morph...	ORPHA:1606
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Aplastic clavicle, Abnormal cortical gyration, Abnormal...	ORPHA:2538
King-Denborough Syndrome	Bilateral ptosis, Type 1 muscle fiber predominance, Low-set ears, Short stature, Ptosis, Downslan...	OMIM:619542
Bardet-Biedl Syndrome 8	Brachycephaly, Situs inversus totalis, Obesity, Postaxial polydactyly	OMIM:615985
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Short palpebral fissure, Telecanthus, Low-set ears, Microcepha...	OMIM:617260
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Highly arched eyebrow, Microcephaly, Contracture o...	OMIM:301044
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3...	OMIM:236500
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Short palpebral fissure, Clinodactyly of the 5th finger, Microcepha...	ORPHA:2163
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Highly arched eyebrow, Man...	ORPHA:94066
Spondyloepimetaphyseal Dysplasia, Krakow Type	Metaphyseal irregularity, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of t...	OMIM:618162
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse...	OMIM:224300
Dysosteosclerosis	Optic atrophy, Abnormal metaphysis morphology, Macrocephaly, Craniofacial hyperostosis, Delayed e...	ORPHA:1782
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet...	OMIM:278760
Marinesco-Sjögren Syndrome	Optic atrophy, Muscular dystrophy, Abnormal metacarpal morphology, Abnormal finger morphology, Ap...	ORPHA:559
Cranioectodermal Dysplasia 2	Retrognathia, Mesomelia, Syndactyly, Left ventricular hypertrophy, Joint hypermobility, Craniosyn...	OMIM:613610
Contractures-Developmental Delay-Pierre Robin Syndrome	Chiari type I malformation, Inguinal hernia, Microtia, Abnormal finger morphology, Hip dysplasia,...	ORPHA:436003
Wiedemann-Steiner Syndrome	Hyperactivity, Microcephaly, Dysphagia, Intrauterine growth retardation, Clinodactyly, Aggressive...	ORPHA:319182
Trisomy 13	Optic atrophy, Bilateral single transverse palmar creases, Abnormal antihelix morphology, Sensori...	ORPHA:3378
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187601
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Aredyld Syndrome	Lipoatrophy, Advanced eruption of teeth, Low-set, posteriorly rotated ears, Craniofacial hyperost...	ORPHA:1133
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Pectoralis hypoplasia, Sensorineural hearing impairment, Microcephaly, Dysphagia, M...	OMIM:254940
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Hypoplasia of the corpus callosum, Plagiocephaly, Optic atrophy, Cerebellar atrophy, Microcephaly...	OMIM:617481
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Cerebellar atrophy, Aspiration pneu...	ORPHA:79264
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Highly arched eyebrow, Shortening of all distal phalanges of t...	ORPHA:247262
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Narrow chest, Thin ribs, Tibial bowing, Bowi...	OMIM:613848
Helsmoortel-Van Der Aa Syndrome	Bilateral ptosis, Sandal gap, Hyperactivity, Prominent fingertip pads, Short lower limbs, Abnorma...	OMIM:615873
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Mandibular prognathia, Abnormal digit morphology, Microcephaly, Ptosis, Downslante...	OMIM:268850
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macrocephaly, Sensorineural hearing impairment, Right atrial enlargement, Microcep...	OMIM:615219
Chime Syndrome	Brachycephaly, Pulmonary valve atresia, Supernumerary tooth, Transposition of the great arteries,...	ORPHA:3474
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Progressive microcephaly, Sensorineural hearing impairment, Cerebellar atrophy, Int...	OMIM:608779
Tatton-Brown-Rahman Syndrome	Narrow palpebral fissure, Macrocephaly, Widely spaced toes, Mandibular prognathia, Chiari malform...	ORPHA:404443
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Coronary artery fistula, Cerebra...	OMIM:620024
Distal Triplication 15Q	Retrognathia, Large for gestational age, Telecanthus, Dandy-Walker malformation, Sensorineural he...	ORPHA:314588
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p...	ORPHA:3082
Schneckenbecken Dysplasia	Lateral clavicle hook, Narrow chest, Snail-like ilia, Short ribs, Short long bone, Flat acetabula...	OMIM:269250
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Retrognathia, Macrocephaly, Abnormal fibula morphology, Inguinal hernia, Sandal gap, ...	ORPHA:1812
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Multiple prenatal fractures,...	OMIM:259420
Hypochondroplasia	Abnormal metaphysis morphology, Childhood onset short-limb short stature, Macrocephaly, Abnormal ...	ORPHA:429
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Short long bone, Joint hypermobility, Coxa valga, Inguinal hernia, Small epiphyses, Short stature...	OMIM:618363
Kagami-Ogata Syndrome	Polyhydramnios, Large placenta, Premature birth, Limitation of joint mobility	ORPHA:254519
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Ablepharon, Intrauterine growth retardation, Prim...	OMIM:256520
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Osteopetrosis, Macrocephaly, Cerebellar hypoplasia, Chiari type I malformation, Di...	OMIM:618476
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot	OMIM:614954
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Microce...	OMIM:620141
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Flexion contracture of toe, Prominent occiput, Microtia, Cerebellar atroph...	ORPHA:280633
Xk Aprosencephaly Syndrome	Microcephaly, Atrial septal defect, Ventricular septal defect, Abnormal morphology of the radius	ORPHA:3469
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep...	OMIM:602875
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Hypoplasia of the ulna, Atrioventricular canal defect, Short first ...	OMIM:619135
Seckel Syndrome 9	Congenital diaphragmatic hernia, Small for gestational age, Talipes equinovarus, Microcephaly, Sh...	OMIM:616777
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Palpebral edema, Low-set, posteriorly rotated ears, Limb hypertonia, Highly arched eyebrow, Cereb...	ORPHA:466688
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Microtia, Joint hypermobility, Broad palm, Clinodactyly, Agan...	OMIM:190685
Trichohepatoenteric Syndrome 1	Large placenta, Polyhydramnios, Decreased circulating antibody level, Abnormalities of placenta o...	OMIM:222470
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Microcephaly, Diffuse cerebral atrophy, Flat occiput	ORPHA:2898
Pseudopseudohypoparathyroidism	Short 4th metacarpal, Short metatarsal, Ectopic ossification, Short stature, Obesity, Brachydacty...	ORPHA:79445
Oculoauriculofrontonasal Syndrome	Macrocephaly, Upper eyelid coloboma, Microtia, Microcephaly, Conductive hearing impairment, Micro...	ORPHA:398156
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Short nose, Maxillozygomatic hypoplasia, Low-set ears, Trigonocephaly, Downslanted...	ORPHA:1790
Distal 22Q11.2 Microdeletion Syndrome	Abnormal earlobe morphology, Sandal gap, Highly arched eyebrow, Sensorineural hearing impairment,...	ORPHA:261330
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Dysgenesis of the cerebellar vermis, Abnormal optic disc morphology, R...	ORPHA:397715
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Cerebellar vermis hypoplasia, Sh...	OMIM:615630
Momo Syndrome	Brachycephaly, Large for gestational age, Abnormal bone ossification, Macrocephaly, Delayed erupt...	ORPHA:2563
Seizures-Scoliosis-Macrocephaly Syndrome	Reduced bone mineral density, Macrocephaly, Microcephaly, Overlapping toe, Atrial septal defect	ORPHA:466926
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Agitation, EEG abnormality, Motor stereotypy, Aggressive behavior	OMIM:617171
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Shallow orbits, Broad thumb, Severe short s...	OMIM:166250
Rauch-Steindl Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Telecanthus, Hyperactivity, Highly ...	OMIM:619695
Osteogenesis Imperfecta	Mixed hearing impairment, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip b...	ORPHA:666
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Attention deficit hyperactivity disorder, Syndactyly...	OMIM:305400
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Antley-Bixler Syndrome	Brachycephaly, Short nose, Turricephaly, Low-set, posteriorly rotated ears, Femoral bowing, Joint...	ORPHA:83
Van Esch-O'Driscoll Syndrome	Retrognathia, Microtia, Cerebellar atrophy, Impulsivity, Shallow orbits, Microcephaly, Intrauteri...	OMIM:301030
Intellectual Developmental Disorder, Autosomal Dominant 47	Cerebral atrophy, Chiari type I malformation, Small for gestational age, Microcephaly, Thin eyebr...	OMIM:617635
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Sensorineural hearing impairment, Abnormal pinna morp...	ORPHA:794
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ...	OMIM:612447
Chops Syndrome	Optic atrophy, Short nose, Cervical C2/C3 vertebral fusion, Tracheomalacia, Patent foramen ovale,...	OMIM:616368
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist...	OMIM:609465
Craniodigital-Intellectual Disability Syndrome	Brachycephaly, Short nose, Finger syndactyly, Long eyelashes, Short stature, Micrognathia, Thick ...	ORPHA:1514
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Short nose, Aganglionic megacolon, Highly arched eyebrow, Sensorineural hearing im...	OMIM:239300
Cerebellofaciodental Syndrome	Thin corpus callosum, Clinodactyly of the 5th finger, Genu valgum, Slender long bone, Single tran...	OMIM:616202
Pyruvate Dehydrogenase E1-Beta Deficiency	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormal calvaria morphology, Co...	ORPHA:255138
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short finger, Small epiphyses, Thin ribs, Thoracic kyphosis, Prominent sternum, Flared iliac wing...	OMIM:300232
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Camp...	OMIM:619123
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Dubowitz Syndrome	Sandal gap, Microcephaly, Broad thumb, Abnormality of thumb phalanx, Intrauterine growth retardat...	ORPHA:235
Warsaw Breakage Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Hypoplasia of the cochlea, Single t...	OMIM:613398
Robinow Syndrome, Autosomal Dominant 2	Mixed hearing impairment, Sensorineural hearing impairment, Broad thumb, Mesomelia, Umbilical her...	OMIM:616331
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Lopes-Maciel-Rodan Syndrome	Cerebral atrophy, Agitation, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Dystonia, Dys...	OMIM:617435
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Kagami-Ogata Syndrome	Short palpebral fissure, Retrognathia, Inguinal hernia, Microtia, Diastasis recti, Omphalocele, P...	OMIM:608149
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Impulsivity, Microcephaly, Joint hypermobility, Bruxism, ...	OMIM:619950
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Secondary microcephaly, Optic atrophy, Hip subluxation, Hypsarrhythmia, Cerebral cortical atrophy...	ORPHA:500144
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti...	ORPHA:2167
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Upslanted palpebral fissure, Internally rotated shoulders, Impulsivity, Dys...	OMIM:619503
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Generalized bone demineralization, Abnormal diaphysis morphology, Nar...	ORPHA:73230
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Bilateral ptosis, Temporal optic disc pallor, Sensorineural hearing impairment, Ca...	ORPHA:1215
Chromosome 13Q14 Deletion Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Inguinal hernia, Single transv...	OMIM:613884
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Spinocerebellar Ataxia 23	Tremor, Cerebellar atrophy, Agenesis of corpus callosum	OMIM:610245
Lambert Syndrome	Inguinal hernia, Intrauterine growth retardation, Failure to thrive in infancy, Ventricular septa...	ORPHA:1296
Chromosome 15Q11-Q13 Duplication Syndrome	Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy	OMIM:608636
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Abnormal pinna morphology, Cerebellar atrophy, Microcephaly, Dysphagia, Type 2 muscle fiber predo...	OMIM:615471
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Tracheomalacia, Ventricular hypertrophy, Growth delay, Failure...	OMIM:612561
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Bilateral single transverse palmar...	ORPHA:2524
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Low-set ear...	ORPHA:2008
Phaver Syndrome	Triphalangeal thumb, Abnormal rib morphology, Joint stiffness, Camptodactyly of finger, Broad thu...	ORPHA:2876
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium, Hypoplasia of the musculature, Polymicrogyria, Hydranencephaly, Dandy-Walker malformat...	OMIM:225790
Fumarase Deficiency	Cerebral atrophy, Optic atrophy, Perimembranous ventricular septal defect, Conjunctival icterus, ...	OMIM:606812
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, ...	OMIM:613443
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Knee osteo...	ORPHA:2619
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho...	ORPHA:536471
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang...	OMIM:613849
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Telecanthus, Globus pallidus calcification, Hyperactivity, Almond-shaped palpebral fi...	OMIM:620292
Cardiofaciocutaneous Syndrome	Sparse or absent eyelashes, Pulmonic stenosis, EEG abnormality, Thickened helices, Optic atrophy,...	ORPHA:1340
Cerebrooculonasal Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Short nose, Macrocephaly, Postnatal growth reta...	OMIM:605627
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Hyperactivity, Mandibular prognathia, Short metacarpal, Short phala...	OMIM:614613
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Retrognathia, Patellar hypoplasia, Sensorineural hearing impai...	ORPHA:464288
Mgat2-Cdg	Osteopenia, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hypsarrhythmia, Progr...	ORPHA:79329
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ...	ORPHA:1426
Monosomy 9P	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o...	ORPHA:261112
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Sensorineural hearing impairment, M...	ORPHA:818
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Relative macrocephaly, Impulsivity, Cardiomegaly, Joint hypermobility, Aggressiv...	OMIM:300967
Bardet-Biedl Syndrome 18	Obesity, Brachydactyly	OMIM:615995
Cat-Eye Syndrome	Intrauterine growth retardation, Abnormal rib morphology, Hip dysplasia	ORPHA:195
Hypochondroplasia	Limited elbow extension, Macrocephaly, Disproportionate short-limb short stature, Flared metaphys...	OMIM:146000
Cornelia De Lange Syndrome 6	Hair-pulling, Highly arched eyebrow, Microcephaly, Arachnodactyly, Intrauterine growth retardatio...	OMIM:620568
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi...	ORPHA:2107
Apert Syndrome	Sensorineural hearing impairment, Brachyturricephaly, Broad thumb, Optic atrophy, Aplasia/Hypopla...	ORPHA:87
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Abnormal pinna morphology, Microcephaly, Clinodactyly, Tauro...	OMIM:164200
Leri Pleonosteosis	Abnormal metaphysis morphology, Short palpebral fissure, Cubitus valgus, Abnormal metacarpal morp...	ORPHA:2900
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Retrognathia, Relative macrocephaly, Cranial asymmetry, Severe intrauterine growth r...	ORPHA:3455
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Decreased nerve conduction velocity, Sandal gap, Patent foramen ovale, Dis...	ORPHA:477817
Ring Chromosome 7 Syndrome	Bilateral ptosis, Highly arched eyebrow, Small earlobe, Severe intrauterine growth retardation, M...	ORPHA:1449
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Micrognathia, Neonatal de...	OMIM:615524
Ring Chromosome 12 Syndrome	Secundum atrial septal defect	ORPHA:1439
Pseudoaminopterin Syndrome	Limited elbow movement, Clinodactyly of the 5th toe, Highly arched eyebrow, Hypoplasia of the ant...	ORPHA:221120
Hunter-Macdonald Syndrome	Sensorineural hearing impairment, Mitral valve prolapse, Umbilical hernia, Bicuspid aortic valve,...	OMIM:611962
Ring Chromosome 22 Syndrome	Inappropriate behavior, 2-3 toe syndactyly, Microcephaly, Macrotia, Growth delay, Dolichocephaly,...	ORPHA:1446
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Cubitus valgus, Rhizo-meso-acromelic limb shortening, Curly eyelashes, Blepharophimosis, Abnormal...	ORPHA:163654
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Thin corpus callosum, Hypertrophic cardiomyopathy, Hearing impairment, Dystonia, Ventricular sept...	OMIM:616277
Renpenning Syndrome 1	Microcephaly, Camptodactyly, Sparse lateral eyebrow, Hearing impairment, Short stature, Protrudin...	OMIM:309500
19Q13.11 Microdeletion Syndrome	Retrognathia, Clinodactyly of the 5th finger, Sparse or absent eyelashes, Finger syndactyly, Cach...	ORPHA:217346
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Aplasia/hypoplasia of the hum...	ORPHA:198
Vici Syndrome	Postnatal growth retardation, Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Chr...	OMIM:242840
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Facial hypotonia, Optic nerve ...	OMIM:618381
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Lambotte Syndrome	Retrognathia, Telecanthus, Microcephaly, Macrotia, Atresia of the external auditory canal, Intrau...	OMIM:245552
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Retrognathia, Sensorineural hearing impairment, Tibial bowing, Shallow orbits, Flexi...	OMIM:601812
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Optic atrophy, Synophrys, Microcephaly, Short stature, Limb joint contracture, Agenesis of corpus...	OMIM:300004
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Abnormal pelvic girdle bone morphology, Micromelia, Short st...	ORPHA:2928
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Abnormal autonomic nervous system ph...	OMIM:601559
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cardiomyopathy, Joint hypermobility, Overlapping toe, Aplasia/Hypoplasia of the ...	ORPHA:480880
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis, Single transverse palmar crease, Tremor, Microcephaly, Macrotia, Short stat...	ORPHA:457240
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ...	ORPHA:96334
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Tremor, Low-set ears, Microcephaly, Arachnodactyly, Clinodactyly, Large fleshy ears...	OMIM:619092
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Abnormal endocardium morphology, Atrioventricular canal defect, Low-set, posterior...	ORPHA:500
8P23.1 Duplication Syndrome	Highly arched eyebrow, Pulmonic stenosis, Hearing impairment, Tetralogy of Fallot, Toe syndactyly...	ORPHA:251076
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Supernumerary tooth, Protruding ear, Genu valgum, Low...	ORPHA:502
5Q14.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Short nose, Frontal cortical atrophy, Optic nerve hypoplasia, ...	ORPHA:228384
Craniotelencephalic Dysplasia	Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Cranio...	OMIM:218670
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Large for gestational age, Macrocephaly, Optic nerve hypoplasia, Cranial asymmetry, Pulmonic sten...	ORPHA:137634
Carpenter Syndrome	Polydactyly, Turricephaly, Genu valgum, Finger syndactyly, Cloverleaf skull, Postaxial hand polyd...	ORPHA:65759
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Microcephaly, Craniosynostosis, Tarsal synostosis, Inguinal hernia, Elbow flexion contracture, Ca...	OMIM:178110
Anauxetic Dysplasia 3	Plagiocephaly, Retrognathia, Hip subluxation, Genu valgum, Broad eyebrow, Broad middle phalanx of...	OMIM:618853
Intellectual Developmental Disorder, X-Linked 98	Long nose, Hyperactivity, Lower limb amyotrophy, Bruxism, Aggressive behavior, Recurrent hand fla...	OMIM:300912
Orofaciodigital Syndrome Type 1	Chronic otitis media, Reduced bone mineral density, Cone-shaped epiphysis, Tarsal synostosis, Dan...	ORPHA:2750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Turricephaly, Abnormal earlobe morphology, Proximal tibial a...	ORPHA:95699
Frontofacionasal Dysplasia	Brachycephaly, Hypoplasia of the corpus callosum, Short nose, Upper eyelid coloboma, Telecanthus,...	ORPHA:1791
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608631
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperactivity, Relative macrocephaly, Pulmonic stenosis, Joint hypermobility, Deep palmar crease,...	OMIM:607721
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Macrocephaly, Sandal gap, Hyperactivity, Microtia, Low-set ears, Tapered finger, S...	OMIM:618089
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ...	ORPHA:163966
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Atopic derma...	OMIM:618282
Restrictive Dermopathy 1	Stillbirth, Short umbilical cord, Polyhydramnios, Osteolytic defects of the distal phalanges of t...	OMIM:275210
Anauxetic Dysplasia 1	Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os...	OMIM:607095
Pelviscapular Dysplasia	Macrocephaly, Abnormal pinna morphology, Elbow flexion contracture, Low-set ears, Hypoplastic ili...	ORPHA:93333
Neurodevelopmental Disorder With Spasticity And Poor Growth	Microtia, Opisthotonus, Patent foramen ovale, Bilateral coxa valga, Short stature, Failure to thr...	OMIM:618076
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment, Cerebellar atr...	ORPHA:309282
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Recurrent otitis media, Microtia, Microcephaly, Ptosis, Hearing imp...	ORPHA:2728
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Truncal obesity, Delayed eruption of teeth, Seborrheic dermatitis, ...	OMIM:301072
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Sparse lateral eyebrow, Cerebellar atrophy, Prominent antitragus, Brachydactyly	OMIM:618879
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Prominent fingertip pads, Hypoplasia of olfactor...	OMIM:229850
Spastic Paraplegia 20, Autosomal Recessive	Hammertoe, Distal amyotrophy, Cerebellar atrophy, Short foot, Camptodactyly, Short stature, Abnor...	OMIM:275900
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Limitation of joint mobi...	ORPHA:1865
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Cardiomyopathy, Broad thumb, Umbilical hernia, Low-set, posterio...	ORPHA:373
Zttk Syndrome	Relative macrocephaly, Joint hypermobility, Craniosynostosis, Intrauterine growth retardation, Op...	OMIM:617140
Muenke Syndrome	Brachycephaly, Plagiocephaly, Tarsal synostosis, Macrocephaly, Sensorineural hearing impairment, ...	ORPHA:53271
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Rocker bottom foo...	OMIM:601353
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Brachydactyly	ORPHA:168796
Marshall Syndrome	Brachycephaly, Short nose, Genu valgum, Cerebral calcification, Sensorineural hearing impairment,...	ORPHA:560
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Seborrheic dermatitis, Brachyturricephaly, Microcephaly, Arachnodactyly, Contractur...	ORPHA:83617
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Microcephaly, Micrognathia, Pachygyria, Agenesis of corpus callosum, Ventr...	ORPHA:452
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Abnormal pinna morphology, Postaxial hand polydactyl...	ORPHA:75389
Symphalangism, Distal	Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr...	OMIM:185700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Brachycephaly, Secondary microcephaly, Postnatal growth retardation, Delayed puberty, Proximal pl...	OMIM:616263
Mosaic Trisomy 9	Rocker bottom foot, Prominent occiput, Microcephaly, Intrauterine growth retardation, Hip disloca...	ORPHA:99776
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short nose, Retrognathia, Microcephaly, Failure to thrive, Short stature, Joint contr...	OMIM:618005
Cockayne Syndrome Type 1	Optic atrophy, Scarring, Hypoplasia of the primary teeth, Postnatal growth retardation, Foot join...	ORPHA:90321
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Low-set ears, Microcephaly, Frontal bossing, Motor stereotypy, Self-injuri...	OMIM:618718
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Inguinal hernia, Low-set ears, Biparietal narrowing, Microcephaly, Short stature, Acne, Atrial se...	ORPHA:261190
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action tremor, Focal dystoni...	ORPHA:98807
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Hyperactivity, Dislocated radial ...	OMIM:210600
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ...	ORPHA:93308
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal rib morphology, Sprengel anomaly, Joi...	ORPHA:2475
Corpus Callosum, Partial Agenesis Of, X-Linked	Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Aganglionic megacolon, ...	OMIM:304100
Chromosome 8Q22.1 Duplication Syndrome	Short palpebral fissure, Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Hallu...	OMIM:151200
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Broad long bo...	OMIM:269300
Band Heterotopia	Plagiocephaly, Macrocephaly, Polymicrogyria, Lateral ventricle dilatation, Agenesis of corpus cal...	OMIM:600348
Craniofacioskeletal Syndrome	Short palpebral fissure, Clinodactyly of the 5th finger, Microtia, Narrow iliac wing, Short foot,...	OMIM:300712
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Clov...	OMIM:101600
Tyshchenko Syndrome	Hypoplasia of the corpus callosum, Low-set ears, Pulmonic stenosis, Ptosis, Short stature, Poster...	OMIM:615102
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon...	OMIM:614779
Distal Xq28 Microduplication Syndrome	Absent antihelix, Patent foramen ovale, Upper eyelid edema, Microtia, Impulsivity, Microcephaly, ...	ORPHA:293939
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Hypoplasia of the corpus callosum, Proximal placement of thumb, Telecanthus, Decrease...	OMIM:615789
Char Syndrome	Clinodactyly of the 5th finger, Prominent occiput, Symphalangism of the 5th finger, Mesoaxial foo...	ORPHA:46627
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral ptosis, Retrognathia, Sensorineural hearing impairment, Lateral ventricle dilatation, A...	ORPHA:544488
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypsarrhythmia, Single transverse palmar crease, EEG with occipital epileptiform discharges, Syno...	OMIM:619428
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Severe short statu...	ORPHA:2658
Lamb-Shaffer Syndrome	Optic atrophy, Abnormal temper tantrums, Fused cervical vertebrae, Decreased head circumference, ...	ORPHA:530983
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Megalencephaly, Macrocephaly, Facial hypotonia, Slender build, Joint hypermobility, Atrial septal...	OMIM:611087
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Low-set ears, Micrognathia, Pachygyria, Agenesis of corpus callosum, Liss...	OMIM:300215
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Secondary microcephaly, Optic atrophy, Primary ...	ORPHA:496641
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Aplasia/Hypoplasia of the cerebellum, Ankyloblepharon, Fib...	OMIM:612651
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Dysplastic cor...	OMIM:616900
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Claw hand deformity, Hammertoe, Sensorineural hearing impair...	OMIM:601455
Developmental And Epileptic Encephalopathy 31B	Secondary microcephaly, Optic atrophy, Thin corpus callosum, Hypsarrhythmia, Low-set ears, Reduce...	OMIM:620352
Restrictive Dermopathy	Osteopenia, Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Decreased skull...	ORPHA:1662
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Radial deviation of finger, Sensorineural hearing impairment, Microtia, Microcephaly, Umbilical h...	OMIM:301040
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Highly arched eyebrow, Cerebral calcification, Corpus callosum atrophy, Mic...	OMIM:620371
Joubert Syndrome 30	Dandy-Walker malformation, Polymicrogyria, Postaxial hand polydactyly, Cerebellar atrophy, Ptosis...	OMIM:617622
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Short nose, Macrocephaly, Aganglionic megacolon, Telecanthus, Hearing im...	ORPHA:3339
3Q29 Microduplication Syndrome	Macrocephaly, Sandal gap, Low-set ears, Biparietal narrowing, Camptodactyly of toe, Microcephaly,...	ORPHA:251038
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Telecanthus, Cerebral calcification, Clubbing, Hypertrophic cardiomyopathy, Synoph...	OMIM:617303
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Bowed humerus, Short clavicles, Elbow flexion contracture, Bilateral talipes equinovarus, Hypopla...	OMIM:618022
Combined Oxidative Phosphorylation Deficiency 24	Hypoplasia of the corpus callosum, Optic atrophy, Ragged-red muscle fibers, Cerebellar atrophy, M...	OMIM:616239
Developmental And Epileptic Encephalopathy 18	Highly arched eyebrow, EEG abnormality, Ptosis, Downslanted palpebral fissures, Atrial septal def...	OMIM:615476
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Bicuspid aortic valve, Sh...	OMIM:604381
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Telecanthus, Hypsarrhythmia, Prominent ear helix, Synophrys, L...	ORPHA:411986
Renpenning Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Cachexia, Pectus excavatum, Abnormal r...	ORPHA:3242
Short-Rib Thoracic Dysplasia 12	Anencephaly, Abnormal pinna morphology, Short long bone, Intrauterine growth retardation, Short f...	OMIM:269860
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Telecanthus, Compulsive beha...	OMIM:618050
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Abno...	OMIM:250460
Momo Syndrome	Brachycephaly, Macrocephaly, Delayed eruption of teeth, Frontal bossing, Downslanted palpebral fi...	OMIM:157980
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Short stature, Atrial septal defect	OMIM:113301
Woods Syndrome	Limited elbow extension, Optic atrophy, Single transverse palmar crease, Lingual dystonia, 3-4 fi...	OMIM:615236
Ogden Syndrome	Cerebral atrophy, Postnatal growth retardation, Torticollis, Inguinal hernia, Low-set ears, Front...	ORPHA:276432
Mucolipidosis Ii Alpha/Beta	Palpebral edema, Thin corpus callosum, Short long bone, Flat acetabular roof, Flared iliac wing, ...	OMIM:252500
Oculomaxillofacial Dysostosis	Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Abnormality ...	ORPHA:1794
Cardiac-Valvular Ehlers-Danlos Syndrome	Hypermobility of distal interphalangeal joints, Sandal gap, Mitral valve prolapse, Left ventricul...	ORPHA:230851
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Short nose, Advanced eruption of teeth, Clinodactyly of the 5th finger, Highly arc...	ORPHA:1519
Tbck-Related Intellectual Disability Syndrome	Sensorineural hearing impairment, Abnormal periventricular white matter morphology, Pulmonic sten...	ORPHA:488632
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Protruding ear, Macrocephaly, Sensorineural hearing impairment, Tapered finger, Micro...	ORPHA:2479
Tarp Syndrome	Rocker bottom foot, Small earlobe, Intrauterine growth retardation, Clinodactyly, Optic atrophy, ...	ORPHA:2886
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Palmoplantar cutis la...	ORPHA:363705
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Bronchiecta...	OMIM:619466
Noonan Syndrome 4	Bilateral ptosis, Large for gestational age, Macrocephaly, Cubitus valgus, Dental malocclusion, L...	OMIM:610733
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Highly arched eyebrow, Microcephaly, Lacrimal duct aplasia, Umbi...	OMIM:618454
Fliedner-Zweier Syndrome	Hypoplasia of the corpus callosum, Bicuspid aortic valve, Cerebellar atrophy, Microcephaly, Obesi...	OMIM:620511
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly, Optic atrophy, Postnatal growth retardation, Sandal gap, Single transverse palmar ...	OMIM:614800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Sensorineural h...	ORPHA:444077
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Retrognathia, Focal white matter lesions, Sensorineural hearing impai...	ORPHA:557003
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Short palpebral fissure, Hypoplasia of the corpus callosum, Dandy-Walker malformat...	OMIM:156610
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy	OMIM:615981
Brachydactyly Type C	Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Stipp...	ORPHA:93384
Khan-Khan-Katsanis Syndrome	Trichiasis, Short nose, Highly arched eyebrow, Cerebellar vermis hypoplasia, Patent foramen ovale...	OMIM:618460
Macs Syndrome	Palpebral edema, Macrocephaly, Recurrent aphthous stomatitis, Single transverse palmar crease, De...	OMIM:613075
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Abnormal pinna morphology, Severe intrauterine growth retardation, Wr...	OMIM:268300
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Shallow orbits, Joint stiffness, Left ventricular hypertrophy, Deep palmar crease, Pa...	OMIM:619127
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Lig4 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Microcephaly, Failure to thrive, Epicanthus, Small...	OMIM:606593
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Join...	OMIM:617952
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Postnatal growth retardation, Narrow joint spaces of the elbow, Clinodactyly of the 5th finger, S...	ORPHA:96182
Myhre Syndrome	Abnormal metaphysis morphology, Short palpebral fissure, Inguinal hernia, Craniofacial hyperostos...	ORPHA:2588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Muscular dystrophy, Progressive microcephaly, Type II lissencephaly, Agyria, Sensorineural hearin...	OMIM:615249
Pfeiffer Syndrome Type 1	Brachycephaly, Short nose, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, F...	ORPHA:93258
Adult-Onset Autosomal Dominant Leukodystrophy	Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Abnormal cerebellar peduncl...	ORPHA:99027
Neurocardiofaciodigital Syndrome	Hypoplasia of the corpus callosum, Atrial septal defect, Retrognathia, Polydactyly, Double inlet ...	OMIM:619869
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped...	OMIM:271640
Angelman Syndrome	Brachycephaly, Secondary microcephaly, Hyperactivity, Mandibular prognathia, Cerebral cortical at...	OMIM:105830
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Sandal gap, Microtia, Low-set ears, Trigonocephaly, Frontal boss...	OMIM:612530
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Anencephaly, Dandy-Walker malformation, Postaxial hand polydac...	OMIM:611134
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplasti...	OMIM:617925
Monosomy 22Q13.3	Palpebral edema, Hair-pulling, Hyperactivity, Umbilical hernia, Bruxism, Cerebellar cortical atro...	ORPHA:48652
Adams-Oliver Syndrome	Periventricular leukomalacia, Abnormal metacarpal morphology, Finger syndactyly, Absent toe, Abno...	ORPHA:974
Charcot-Marie-Tooth Disease Type 1F	Optic nerve hypoplasia, Sensorineural hearing impairment, Flexion contracture of finger, Proximal...	ORPHA:101085
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Short nose, Clinodactyly of the 5th finger, Low-set, ...	ORPHA:1786
Tetrasomy 15Q26	Dandy-Walker malformation, Low-set ears, Camptodactyly, Arachnodactyly, Downslanted palpebral fis...	OMIM:614846
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu...	ORPHA:1780
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Fixed elbow flexion, Patellar hypoplasia, Telecanthus, Highly arche...	ORPHA:495818
Neurooculorenal Syndrome	Postnatal growth retardation, Mixed hearing impairment, Thin corpus callosum, Dextrocardia, Tetra...	OMIM:620305
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Protruding ear, Camptodactyly, Attention deficit hyperactivity disorder, Arachnodactyly, Joint hy...	OMIM:301039
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Pe...	OMIM:271665
Distal Deletion 15Q	Congenital diaphragmatic hernia, Microcephaly, Double outlet right ventricle with doubly committe...	ORPHA:1596
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Short nose, Macrocephaly, Chiari type I malformation, Inguinal...	OMIM:613735
Otospondylomegaepiphyseal Dysplasia	Disproportionate short stature, Flared femoral metaphysis, Fibular bowing, Abnormal long bone mor...	ORPHA:1427
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Ptosis, Lateral ventricle dilatation, Short corpus callosum, Talipes equinovarus	OMIM:619972
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Short metacarpal, Microcephaly, Joint hypermo...	OMIM:170390
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Highly arched eyebrow, Cerebellar atrophy, Abnormal periventricular ...	ORPHA:487796
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Basal ganglia cysts, Long toe, Polymicrogyria, Intracerebral periventricular calcifi...	OMIM:608836
Mosaic Trisomy 16	Intrauterine growth retardation, Single umbilical artery, Large placenta, Premature birth	ORPHA:1708
Fountain Syndrome	Macrocephaly, Abnormal metacarpal morphology, Craniofacial hyperostosis, Sensorineural hearing im...	ORPHA:3219
Lig4 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Telecanthus, Biparietal narrowing, Microcephaly, G...	ORPHA:99812
Leukodystrophy, Hypomyelinating, 13	Secondary microcephaly, Optic atrophy, Delayed brainstem auditory evoked response conduction time...	OMIM:616881
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypoplasia of the corpus callosum, Bilateral sensorineural hearing impairment, Microcephaly, Fail...	OMIM:619418
Specific Granule Deficiency 2	Osteopenia, Amelogenesis imperfecta, Recurrent otitis media, Sandal gap, Abnormal pinna morpholog...	OMIM:617475
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Relative macrocephaly, Left ventricular hypertrophy, Joint hypermobility, Aggres...	ORPHA:466791
Holoprosencephaly	Congenital diaphragmatic hernia, Highly arched eyebrow, Abnormal pinna morphology, Microcephaly, ...	ORPHA:2162
Achondrogenesis, Type Ii	Short tubular bones of the hand, Barrel-shaped chest, Hypoplastic iliac wing, Short ribs, Short l...	OMIM:200610
Stuve-Wiedemann Syndrome 2	Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, Eczematoid dermatitis, Neon...	OMIM:619751
Alg8-Cdg	Hypoplasia of the corpus callosum, Optic atrophy, Low-set ears, Camptodactyly, Cerebral cortical ...	ORPHA:79325
Glutathionuria	Action tremor, Tremor, Agenesis of corpus callosum, Eczematoid dermatitis	OMIM:231950
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Cerebral atrophy, Broad eyebrow, Highly arched eyebrow, Low-set ears, Corpus callo...	OMIM:619244
Cardiofaciocutaneous Syndrome 3	Reduced bone mineral density, Hypertrophic cardiomyopathy, Pulmonic stenosis, Failure to thrive, ...	OMIM:615279
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Orbital cyst, Dandy-Walker malformation, Congenital hip disloc...	OMIM:164180
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Cerebral atrophy, Short nose, Macrocephaly, Large for gestationa...	OMIM:614080
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly, Optic atrophy, Cerebellar vermis hypoplasia, Polymicrogyria, Low-set ears, Eczemat...	OMIM:612379
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Generalized limb muscle atrophy, Delayed pub...	OMIM:618891
Costello Syndrome	Macrocephaly, Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Hypertrophic ...	ORPHA:3071
Skraban-Deardorff Syndrome	Hypoplasia of the corpus callosum, Recurrent otitis media, Sparse lateral eyebrow, Micrognathia, ...	OMIM:617616
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Postnatal growth retardation, Noncompaction cardiomyopathy, Failure to thrive, Dia...	OMIM:610198
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral ...	OMIM:613091
Cerebrofaciothoracic Dysplasia	Brachycephaly, Hypoplasia of the corpus callosum, Short nose, Macrocephaly, Low-set, posteriorly ...	ORPHA:1394
Peters Plus Syndrome	Disproportionate short-limb short stature, Pulmonic stenosis, Microcephaly, Umbilical hernia, Int...	ORPHA:709
Gorlin Syndrome	Brachycephaly, Macrocephaly, Palmar pits, Telecanthus, Cerebral calcification, Mandibular prognat...	ORPHA:377
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of the 5th finger, H...	OMIM:616728
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization...	OMIM:619371
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Failure to thrive, Short humerus, Flexion contracture, Short femur	ORPHA:17
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon...	OMIM:143095
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Polymicrogyria, Single t...	OMIM:244300
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rh...	ORPHA:56304
Ramos-Arroyo Syndrome	Atrial septal defect, Aganglionic megacolon, Severe failure to thrive, Primary microcephaly, Bila...	ORPHA:1051
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Aganglionic megacolon, Clinodactyly of the 5th finger, Telecanthus, Talipes equino...	ORPHA:847
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Increased variability in muscle fiber diameter, Lateral ventri...	OMIM:616816
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Abnormal cortical gyration, Patent foramen ovale, Spinal muscular atrophy, Multiple prenatal frac...	OMIM:616867
Transketolase Deficiency	Seborrheic dermatitis, Patent foramen ovale, Compulsive behaviors, Proportionate short stature, H...	ORPHA:488618
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cuppi...	OMIM:156400
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Cerebellar atrophy, Microcephaly, Joint hypermobility, Intrauterine growth ...	OMIM:300966
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Limited elbow extension, Hypoplasia of the ulna, Disproportionate short stature, Type E brachydac...	ORPHA:1856
Teebi-Shaltout Syndrome	Rocker bottom foot, Turricephaly, Highly arched eyebrow, Small earlobe, Aortic valve stenosis, Mi...	OMIM:272950
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Brachycephaly, Long ear, Macrocephaly, Inguinal hernia, Mandibular progn...	ORPHA:85276
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Lipoma, Lower-limb joint contracture, Sensorineural hearing impairment, Microcep...	ORPHA:459070
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Hyperactivity, Sensorineural hearing impairment, Impulsivity, Pul...	ORPHA:353281
Mucopolysaccharidosis Type 2	Hyperactivity, Sensorineural hearing impairment, Temporomandibular joint ankylosis, Cardiomyopath...	ORPHA:580
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Optic atrophy, Hypsarrhythmia, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the pons, D...	OMIM:617669
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Cone-shaped epiphyses of the proximal phalanges of the hand, Clinodactyly, Ivor...	OMIM:190350
Grubben-De Cock-Borghgraef Syndrome	Deviation of finger, Small hand, Partial agenesis of the corpus callosum, Eczematoid dermatitis	ORPHA:2101
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Failure to thrive, Tetralogy of Fallot, Double outlet right ventricle, Ventric...	OMIM:601127
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Microretrognathia, Abnormal rib morphology	ORPHA:276422
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Abnormal rib morphology, Missing ribs, Posterior rib fusion, Intrauterine growth re...	ORPHA:1797
Ogden Syndrome	Left atrial enlargement, Bilateral ptosis, Sandal gap, Microcephaly, Dysphagia, Umbilical hernia,...	OMIM:300855
Carey-Fineman-Ziter Syndrome	Short nose, Aplasia of the pectoralis major muscle, Cerebral calcification, Facial palsy, Aplasia...	ORPHA:1358
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Macrotia, Mic...	ORPHA:1406
Gm1 Gangliosidosis Type 1	Broad metacarpals, Acetabular dysplasia, Broad long bone diaphyses, Short long bone, Cardiomyopat...	ORPHA:79255
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	ORPHA:93396
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Congenital sensorineural hearing impairment, Dysplastic tricuspi...	OMIM:157800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Optic atrophy, Sensorineural hearing impairment, Short stature, Atrial septal defect, V...	ORPHA:49827
Noonan Syndrome 3	Pulmonic stenosis, Mitral valve prolapse, Thickened helices, Patent foramen ovale, Short stature,...	OMIM:609942
Lowry-Wood Syndrome	Limited elbow extension, Irregular epiphyses, Clinodactyly of the 5th finger, Small epiphyses, Sq...	OMIM:226960
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Macrocephaly, Flared metaphysis, Wide anterior fontanel, Mesomelic/r...	ORPHA:2347
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Short nose, Epiphyseal stippling, Microtia, Hearing impairment, Short distal phala...	ORPHA:1914
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Coxa valga, Short femoral neck,...	ORPHA:370930
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Lower limb amyotr...	OMIM:610532
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Sandal gap, Low-set ears, Microcephaly, Conductive hearing impairment, Downslanted...	OMIM:618885
Developmental And Epileptic Encephalopathy 90	Cerebral atrophy, Limb hypertonia, Hypsarrhythmia, Atrial septal defect, EEG with burst suppression	OMIM:301058
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Hypoplastic Left Heart Syndrome	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia	ORPHA:2248
Fryns Syndrome	Congenital diaphragmatic hernia, Aganglionic megacolon, Clinodactyly of the 5th finger, Low-set, ...	ORPHA:2059
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Low-set ears, Long eyelashes, Thick eyebrow, Posteriorly rotated ea...	OMIM:616819
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Microcephaly, Promin...	OMIM:601358
Three M Syndrome 2	Small for gestational age, Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Scapular...	OMIM:612921
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Tricuspid valve prolapse, Macrocephaly, Craniofacial hyperostosis, Bone cyst, A...	ORPHA:2396
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Cleft anterior mitral valve leaflet, Upper eyelid coloboma, Tracheobronchomalacia, ...	OMIM:616462
Congenital Disorder Of Deglycosylation 2	Thin corpus callosum, Macrocephaly, Sandal gap, Highly arched eyebrow, Polymicrogyria, Cerebellar...	OMIM:619775
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal rib morphology, Sprengel ...	ORPHA:2345
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hypoplasia of the corpus callosum, Short nose, Aganglionic megacolon, Dandy-Walker malformation, ...	OMIM:614207
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short palpebral fissure, Broad distal phalanx of finger, Low-set ears, Cerebellar atrophy, Cerebr...	OMIM:617763
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Microcephaly, Aganglionic megacolon, Polymicrogyria, Increased femoral ant...	OMIM:609460
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Bowing of the long bones, Abnormal rib morph...	ORPHA:2050
Brachydactyly Type E	Aplasia/Hypoplasia of the distal phalanx of the hallux, Macrocephaly, Type E brachydactyly, Short...	ORPHA:93387
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Talipes equinovarus, Hyperextensibility of the finger joints, Abnormal pinna morph...	OMIM:309583
Becker Nevus Syndrome	Abnormal tibia morphology, Pectus carinatum, Pectus excavatum, Micromelia, Upper limb asymmetry, ...	ORPHA:64755
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Arachnodactyly, Mitral valve prolapse, Umbilical hernia, Joint hypermobility, Adducted thumb, Hea...	OMIM:601776
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Patent foramen ovale, Microcephaly, Attention deficit hyperactivity disorder	OMIM:617182
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Hypoplastic iliac wing, Mandibular prognathia, Short stature, Brachydactyly,...	ORPHA:1858
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Abnor...	ORPHA:261537
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Reduced bone mineral density, Genu valgum, Short thorax, Pectus c...	ORPHA:582
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Total...	OMIM:208530
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Long nose, Retrognathia, Prominent occiput, Microceph...	ORPHA:3047
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Cerebral atrophy, Ventricular septal defect	OMIM:613759
Oligomeganephronia	Secundum atrial septal defect	ORPHA:2260
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Retrognathia, Highly arched eyebrow, Small earlobe, Microcephaly, Arachnodactyly, Colpocephaly, S...	OMIM:620083
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Subcutaneous ossific...	OMIM:103580
Walker-Warburg Syndrome	Optic atrophy, Muscular dystrophy, Abnormal cortical gyration, Cerebellar hypoplasia, Macrocephal...	ORPHA:899
Chromosome 15Q14 Deletion Syndrome	Highly arched eyebrow, Low-set ears, Posteriorly rotated ears, Atrial septal defect, Ventricular ...	OMIM:616898
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis...	ORPHA:261552
Orofaciodigital Syndrome Type 5	Supernumerary tooth, Aganglionic megacolon, Postaxial polysyndactyly of foot, Postaxial hand poly...	ORPHA:2919
Robinow Syndrome	Mixed hearing impairment, Mesomelic arm shortening, Acromesomelia, Pulmonic stenosis, Abnormal he...	ORPHA:97360
Noonan Syndrome 12	Proximal placement of thumb, Atopic dermatitis, Tetralogy of Fallot, Chiari malformation, Ventric...	OMIM:618624
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Short nose, Mixed hearing impairment, Epiphyseal stippling of toe p...	ORPHA:79345
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Microcephaly, Syndactyly, Short st...	OMIM:148050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Oligodactyly, Microcephaly, Severe short stature, Abnormality of the hand, Aganglionic...	ORPHA:2273
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Hypoplasia of the corpus callosum, Proximal placement of thumb, Highly arch...	ORPHA:261250
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal cranial nerve mor...	OMIM:601596
17Q12 Microduplication Syndrome	Finger syndactyly, Cortical dysplasia, Synophrys, Toe syndactyly, Self-injurious behavior, Atrial...	ORPHA:261272
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Triphalangeal thumb, Sensorineural hearing impairment, Absent middle phalanx of 5th finger, Bilat...	OMIM:124480
Trisomy 9P	Brachycephaly, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Microc...	ORPHA:236
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H...	OMIM:147750
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Absent radius, Small for gestational age, Low-set ears, Short ...	OMIM:227646
Lethal Congenital Contracture Syndrome 10	Overlapping fingers, Adducted thumb, Stiff neck, Torticollis, Femoral bowing, Low-set ears, Short...	OMIM:617022
Genitourinary And/Or Brain Malformation Syndrome	Joint stiffness, Colpocephaly, Syndactyly, Polymicrogyria, Protruding ear, Secondary microcephaly...	OMIM:618820
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Pectus exca...	ORPHA:2522
Desbuquois Dysplasia 2	Relative macrocephaly, Short long bone, Flat acetabular roof, Short metacarpal, Microcephaly, Bro...	OMIM:615777
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join...	OMIM:154400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Syn...	ORPHA:990
15Q11.2 Microdeletion Syndrome	Abnormal pinna morphology, Total anomalous pulmonary venous return, Thick cerebral cortex, Microc...	ORPHA:261183
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Plagiocephaly, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arche...	OMIM:605282
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Dystonia, Pachygyria	OMIM:620094
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly, Retrognathia, Disproportionate short-limb short stature, Highly arc...	OMIM:618644
Intellectual Developmental Disorder, Autosomal Recessive 58	Pica, Short stature, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior	OMIM:617270
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Short thorax, Abnormal iliac wing morphology, Enlar...	ORPHA:3003
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the radius, Hypoplasia of the ulna, Finger syndactyly...	ORPHA:958
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t...	OMIM:190351
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Periventricular white matter hyperintensities, Plagiocephaly, Long nose, Turricephaly, Clinodacty...	OMIM:620224
Amish Lethal Microcephaly	Optic atrophy, Limb hypertonia, Cerebellar vermis hypoplasia, Limitation of joint mobility, Decre...	ORPHA:99742
Thanatophoric Dysplasia, Type I	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187600
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Rickets, Abnormal femur morphology, Abnormal tibia morphology, Oste...	ORPHA:249
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Trichiasis, Entropion, Abnormal dental enamel morphology, Camptodactyly, Absent ey...	OMIM:601701
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Cerebe...	OMIM:263520
Galloway-Mowat Syndrome 7	Cubitus valgus, Minimal change glomerulonephritis, Hallux valgus, Single transverse palmar crease...	OMIM:618348
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Brachydactyly, Epicanthus, Joint hypermobility, Dental malocclusion	OMIM:619692
Acromelic Frontonasal Dysplasia	Brachycephaly, Patellar hypoplasia, Telecanthus, Retrocerebellar cyst, Midline central nervous sy...	ORPHA:1827
Coloboma Of Macula With Type B Brachydactyly	Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph...	OMIM:120400
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a...	OMIM:602418
Cinca Syndrome	Reduced bone mineral density, Macrocephaly, Pseudopapilledema, Inflammatory abnormality of the ey...	ORPHA:1451
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Postnatal growth retardation, Ectropion, Retrognathia, Reduced bone mineral density, Microtia, Sh...	OMIM:620510
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Thin corpus callosum, Head-banging, Optic nerve hypoplasia, Microtia, Relative macrocephaly, Impu...	OMIM:620455
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short greater sciatic notch, Cardi...	OMIM:312870
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Tracheomalacia, Microtia, Hearing impairment, Atresia of the ext...	ORPHA:268249
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Congenital Myopathy 13	Brachycephaly, Short palpebral fissure, Telecanthus, Low-set ears, Bilateral talipes equinovarus,...	OMIM:255995
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Dysplastic corpus callosum, Clinodactyly of the 5th toe, Clinodactyly of th...	OMIM:618010
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Abnormal thumb morphology, Bilateral single transverse palmar cr...	ORPHA:1120
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Dextrocardia, Inguinal hernia...	OMIM:614294
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Macrocephaly, Squared iliac bones, Hypoplastic pubic ...	ORPHA:2746
Diabetic Embryopathy	Transposition of the great arteries, Low-set, posteriorly rotated ears, Microtia, Microcephaly, F...	ORPHA:1926
Joubert Syndrome 14	Hypoplasia of the corpus callosum, Optic atrophy, Highly arched eyebrow, Dandy-Walker malformatio...	OMIM:614424
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ...	ORPHA:85167
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Low-set ears,...	OMIM:618223
Fanconi Anemia	Reduced bone mineral density, Abnormal femur morphology, Abnormal pinna morphology, Abnormality o...	ORPHA:84
Sponastrime Dysplasia	Disproportionate short-limb short stature, Relative macrocephaly, Short long bone, Mesomelia, Met...	ORPHA:93357
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Deep palmar crease, Abnormal antihelix morphology, Abnormal pinna...	ORPHA:96061
Hallermann-Streiff Syndrome	Brachycephaly, Supernumerary tooth, Reduced bone mineral density, Clinodactyly of the 5th finger,...	ORPHA:2108
Meckel Syndrome, Type 1	Radial deviation of finger, Anencephaly, Microcephaly, Syndactyly, Intrauterine growth retardatio...	OMIM:249000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Sensorineural hearing impairment, Cerebellar atrophy, Short stature, Obesity, Short toe, Brachyda...	ORPHA:3085
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Progressive microcephaly, Optic nerve hypoplasia, Sensorineural hearing impairment, Microcephaly,...	OMIM:300749
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Hyperactivity, Sensorin...	OMIM:608747
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Intrauterine growth retardation, Joint...	OMIM:224690
Doors Syndrome	Bilateral ptosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Prominent occiput, Abnormal...	ORPHA:79500
Weill-Marchesani Syndrome 3	Joint stiffness, Aortic valve stenosis, Pulmonic stenosis, Short stature, Brachydactyly	OMIM:614819
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Palpebral edema, Hyperactivity, Impulsivity, Microcephaly, Head titubation, Bicu...	OMIM:619475
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Turricephaly, Short metacarpal, Rhizomelic arm short...	ORPHA:93317
Acromelic Frontonasal Dysostosis	Parietal foramina, Optic nerve hypoplasia, Calcification of falx cerebri, Midline central nervous...	OMIM:603671
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se...	OMIM:620570
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Low-set ears, Short stature, Frontal bossing, Downslanted palpebral fissures, Macr...	ORPHA:314575
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Sensorineural hearing impairment, Abnormal pinna morphology, Microcephaly, Syndactyly, Intrauteri...	OMIM:616975
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Upper eyelid coloboma, Abnormal metacarpal morphology, Abnormal eyelid morphology,...	ORPHA:2095
Early Infantile Epileptic Encephalopathy	Hyperactivity, Cerebellar atrophy, Microcephaly, Umbilical hernia, EEG abnormality, Short finger,...	ORPHA:1934
Mucolipidosis Type Ii	Sensorineural hearing impairment, Cardiomyopathy, Shallow orbits, Abnormal mitral valve morpholog...	ORPHA:576
Lateral Meningocele Syndrome	Umbilical hernia, Bicuspid aortic valve, Joint hypermobility, Keloids, Inguinal hernia, Short sta...	OMIM:130720
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Macrocephaly, Attention deficit hyperactivity disorder, Motor stereotypy, Joint hypermobility, Ov...	OMIM:620065
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin corpus callosum, Abnormal dentate nucleus morphology, Microcephaly, Restlessness, Lateral ve...	OMIM:619517
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Aortic valve stenosis, Microcephaly, Arachnodactyly, Intrauterine growth retardati...	ORPHA:464306
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Radial deviation of finger, Proximal placement of thumb, Hyperac...	OMIM:613406
Myoectodermal Gonadal Dysgenesis Syndrome	Hypoplasia of the lacrimal punctum, Highly arched eyebrow, Sensorineural hearing impairment, Bifi...	OMIM:618419
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebral atrophy, Progressive microcephaly, Cerebellar atrophy, Compulsive behaviors, Stereotypic...	OMIM:618917
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale	OMIM:619967
Microphthalmia, Syndromic 2	Sandal gap, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Microceph...	OMIM:300166
Poland Syndrome	Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab...	ORPHA:2911
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Ventricular septal defect, Low-set ears, Microcephaly, Failure to thrive, R...	OMIM:613404
22Q11.2 Deletion Syndrome	Chronic otitis media, Turricephaly, Seborrheic dermatitis, Small earlobe, Multiple suture cranios...	ORPHA:567
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear...	OMIM:271700
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Narrow ...	ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Prominent occiput, Seborrheic dermatitis, Microcephaly, Lateral ventricle dilatation, Abnormal po...	OMIM:300868
Van Den Ende-Gupta Syndrome	Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly, Slender met...	OMIM:600920
Coffin-Siris Syndrome 12	Highly arched eyebrow, Sensorineural hearing impairment, Microcephaly, Broad thumb, Joint hypermo...	OMIM:619325
Pfeiffer Syndrome	Turricephaly, Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Synostosi...	ORPHA:710
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Neonatal death, Cerebellar hypoplasia, Ventricular septal defect, Optic d...	OMIM:613730
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pulmonic stenosis, Cor triatriatum, Secundum atrial septal defect	OMIM:612541
Genitopatellar Syndrome	Thin corpus callosum, Hypoplastic ischia, Microcephaly, Colpocephaly, Dysphagia, Hearing impairme...	OMIM:606170
Fucosidosis	Brachycephaly, Lipoatrophy, Hearing impairment, Failure to thrive, Decreased muscle mass, Cardiom...	ORPHA:349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale, Ptosis, Generalized amyotrophy, Slender build, Pelvic girdle muscle weaknes...	OMIM:615156
Alexander Disease	Osteopenia, Megalencephaly, Macrocephaly, Cerebral calcification, Tremor, Facial palsy, Abnormal ...	ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Macrocephaly, Cervical C2/C3 vertebral fusion, Hyperactivity, Sensori...	OMIM:617796
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Eunuchoid habitus, Obesity, Abnormal rib morphology	ORPHA:2234
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Clinodactyly of the 5th finger, Single transverse palmar crease, Prominent fingert...	OMIM:619188
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Optic nerve hypoplasia, Relative macrocephaly, Pulmonic stenosis, Joint hy...	OMIM:617506
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Sparse lateral eyebrow, Ptosis, Microcephaly, Colpocephaly, Agenesis ...	OMIM:619955
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Colpocephaly, Agenesis of cor...	ORPHA:250972
Mucolipidosis Iv	Optic atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Cerebellar atrophy, Microceph...	OMIM:252650
Transaldolase Deficiency	Wide anterior fontanel, Patent foramen ovale, Low-set ears, Synophrys, Failure to thrive, Intraut...	OMIM:606003
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Inguinal hernia, Microtia, Short foot,...	OMIM:227330
Hyperprolinemia, Type I	Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior	OMIM:239500
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Rhabdomyosarcoma, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the c...	ORPHA:1052
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Delayed puberty, Sensorineural hearing impairment, Ectrodactyly, Short stature, Agene...	OMIM:147950
Emery-Nelson Syndrome	Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy...	ORPHA:1927
Crouzon Syndrome	Brachycephaly, Optic atrophy, Lambdoidal craniosynostosis, Mandibular prognathia, Shallow orbits,...	OMIM:123500
Infantile Krabbe Disease	Increased head circumference, Optic atrophy, Delayed brainstem auditory evoked response conductio...	ORPHA:206436
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microlissencephaly, Optic nerve hypoplasia, Small cerebral cor...	OMIM:617914
X-Linked Intellectual Disability, Snyder Type	Megalencephaly, Small earlobe, Arachnodactyly, Cerebral edema, Long toe, EEG abnormality, Thicken...	ORPHA:3063
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flat acetabular roof, Microcephaly, Perisylvian polymicrogyria, Metaphyseal irregularity, Joint h...	OMIM:610442
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N...	OMIM:260400
Weyers Acrofacial Dysostosis	Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Mild short...	OMIM:193530
Duplication Of The Pituitary Gland	Retrognathia, Supernumerary tooth, Abnormality of masseter muscle, Abnormality of joint mobility,...	ORPHA:314621
Proximal Symphalangism	Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of...	ORPHA:3250
Primrose Syndrome	Delayed puberty, Reduced bone mineral density, Cerebral calcification, Generalized osteoporosis, ...	OMIM:259050
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612463
Campomelic Dysplasia	Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, T...	OMIM:114290
Curry-Jones Syndrome	Finger syndactyly, Foot polydactyly, Broad thumb, Toe syndactyly, Abnormality of thumb phalanx, O...	ORPHA:1553
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Global brain atrophy, Hypsarrhythmia, Microcephaly, Growth delay, Dystonia, Dyspha...	OMIM:308350
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Decreased nerve conduction velocity, Clinodactyly of the 5th finger, Sanda...	OMIM:616652
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Cerebellar vermis hypoplasia, Atopic dermatitis, Hearing impairment, Mic...	OMIM:619074
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebellar vermis hypoplasia, Hypoplas...	OMIM:619306
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Syndactyly, Brachydactyly, Calv...	OMIM:616589
Charge Syndrome	Delayed puberty, Highly arched eyebrow, Abnormal pinna morphology, Microtia, Microcephaly, Dyspha...	ORPHA:138
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Cerebral calcification, Sensorineural hearing impairment, Short met...	ORPHA:79443
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology, Arachnodactyly, Joint hype...	ORPHA:2759
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Epiphyseal dysplasia, Conductive hearing impairment, Short phalanx of finger, Short ...	OMIM:132450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesi...	ORPHA:536467
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Hyperactivity, Highly arched eyebrow, Optic nerve hypoplasia, Abnormal heart ...	ORPHA:508488
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Macrocephaly, Clinodactyly of the 5th finger, Obesity, Syndactyly, Attention defic...	OMIM:618725
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Low-set, posteriorly rotated ears, Highly arched eyebrow, Polymicrogyria, ...	ORPHA:220497
Craniosynostosis 2	Brachycephaly, Supernumerary tooth, Turricephaly, Triphalangeal thumb, Unicoronal synostosis, Bic...	OMIM:604757
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Sprengel anomaly, Obesity, Brachydactyly	ORPHA:2180
Mowat-Wilson Syndrome	Focal white matter lesions, Sensorineural hearing impairment, Microcephaly, Pulmonic stenosis, Ao...	ORPHA:2152
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplasia of the corpus callosum, Retrognathia, Entropion, Inguinal hernia, Low-set ears, Hypert...	OMIM:617403
Nizon-Isidor Syndrome	Hypoplasia of the corpus callosum, Aggressive behavior, Prominent fingertip pads, Downslanted pal...	OMIM:618872
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Narrow ch...	OMIM:208500
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, Microtia, Low-set ears, Broad thumb, Ptosis, Downslanted palpebra...	OMIM:619314
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Tarsal synostosis, Parietal foramina, Wide anterior fontanel, Abnor...	ORPHA:85199
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Macrocephaly, Delayed eruption of teeth, Highly arched eyebrow, Front...	OMIM:618825
Pallister-Hall Syndrome	Mesoaxial polydactyly, Microtia, Oligodactyly, Trigonocephaly, Broad thumb, Umbilical hernia, Int...	ORPHA:672
2q37 monosomy	Brachydactyly	DECIPHER:44
Craniosynostosis And Dental Anomalies	Chronic otitis media, Turricephaly, Trigonocephaly, Clinodactyly, Short stature, Frontal bossing,...	OMIM:614188
Non-Distal Deletion 10Q	Bilateral single transverse palmar creases, Overlapping fingers, Clinodactyly of the 5th finger, ...	ORPHA:1581
Developmental And Epileptic Encephalopathy 110	Hypoplasia of the corpus callosum, Posterior plagiocephaly, Low-set ears, Microcephaly, Ptosis, M...	OMIM:620149
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Attached earlobe, Low-set ears, Short stature, Macrotia, D...	ORPHA:436245
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pectus excavatum, Microg...	OMIM:212780
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Short 4th metacarpal, Bilateral single transverse palmar creases, Clinodactyly of ...	ORPHA:264200
Aase-Smith Syndrome I	Dandy-Walker malformation, Abnormal pinna morphology, Slender finger, Ptosis, Flexion contracture...	OMIM:147800
Bartsocas-Papas Syndrome 1	Ectropion, Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Ablepharon, Absent t...	OMIM:263650
Bilateral Generalized Polymicrogyria	Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Oculogyric crisis, Microcephaly, Sh...	ORPHA:208447
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni...	OMIM:304120
Pseudo-Torch Syndrome 1	Cerebellar hypoplasia, Cerebral calcification, Patent foramen ovale, Polymicrogyria, Low-set ears...	OMIM:251290
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Situs inversus totalis, Sensorineural hearing impairment, Cardiomyopathy, Short st...	OMIM:249270
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Disproportionate short-limb short stature, Sensorin...	OMIM:619194
Short Syndrome	Inguinal hernia, Telecanthus, Abnormal dental enamel morphology, Sensorineural hearing impairment...	ORPHA:3163
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Long nose, Retrognathia, Aplasia/hypoplasia of the fe...	ORPHA:2636
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Bilateral ptosis, Enlarged cerebellum, Macrocephaly, Clinodact...	ORPHA:477993
Mucopolysaccharidosis, Type Iva	Genu valgum, Pectus carinatum, Prominent sternum, Osteoporosis, Flaring of rib cage, Constricted ...	OMIM:253000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Macrocephaly, Chiari type I malformation, Head-banging, Sensorineural hea...	OMIM:619575
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone, Broad thumb, M...	OMIM:180700
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Bilateral single transverse palmar creases, Joint hypermobility, Overlapping ...	ORPHA:488642
Alg6-Cdg	Low-set ears, Shortening of all distal phalanges of the fingers, Failure to thrive, Brachydactyly...	ORPHA:79320
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Failure to thrive,...	OMIM:602361
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Microtia, Short metacarpal, Hypoplastic pelvis, Microcephaly, Short distal phalanx of finger, Cli...	OMIM:614813
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Abnormal earlobe morphology, Microcephaly, Severe ...	ORPHA:2556
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Plagiocephaly, Highly arched eyebrow, Hypsarrhythmia, Cerebellar atrophy, Micro...	OMIM:618008
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Pectus carinatum, Broad clavicles, Femoral ...	OMIM:276820
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Autism, Susceptibility To, X-Linked 2	Plagiocephaly, Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abno...	OMIM:300495
Viss Syndrome	Rocker bottom foot, Ectropion, Retrognathia, Coronary sinus enlargement, Microcephaly, Arachnodac...	OMIM:619472
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger...	OMIM:602782
Bardet-Biedl Syndrome 17	Polydipsia, Situs inversus totalis, Polydactyly, Dextrocardia, Mesoaxial polydactyly, Postaxial h...	OMIM:615994
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Microcephaly, Atrial septal defect, Small for gestational age	OMIM:615160
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Broad lateral eyebrow, Optic nerve hypoplasia, Relative macrocephaly, Arachnodactyly, Abnormal he...	ORPHA:500150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Small earlobe, Microtia, Microcephaly, Dysphagia, Intrauterine growth retardation, Joi...	OMIM:619522
Noonan Syndrome 2	Relative macrocephaly, Cardiomyopathy, Prominent fingertip pads, Pulmonic stenosis, Mitral valve ...	OMIM:605275
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Inguinal hernia, Multiple unerupted teeth, Failure to thr...	ORPHA:2645
Short Stature And Facioauriculothoracic Malformations	Microtia, Low-set ears, Proportionate short stature, Microcephaly, Ptosis, Ventricular septal def...	OMIM:609654
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Short stature, Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Br...	OMIM:619248
Orofaciodigital Syndrome Xiv	Trigonocephaly, Microcephaly, Cerebellar vermis hypoplasia, Polymicrogyria, Dandy-Walker malforma...	OMIM:615948
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Plagiocephaly, Cerebral atrophy, Optic nerve dysplasia, Limb hypertonia, Frontal b...	OMIM:617296
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Mandibular prognathia...	OMIM:619143
Laron Syndrome	Delayed puberty, Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Brachydactyl...	ORPHA:633
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Abnormal corpus callosum morphology, ...	ORPHA:206448
Semilobar Holoprosencephaly	Macrocephaly, Proboscis, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, M...	ORPHA:220386
Alobar Holoprosencephaly	Macrocephaly, Proboscis, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, M...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Macrocephaly, Proboscis, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, M...	ORPHA:93926
Lobar Holoprosencephaly	Macrocephaly, Proboscis, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, M...	ORPHA:93924
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Bilateral ptosis, Long toe, Hyperextensibility of the finger joints, Microtia...	ORPHA:163979
Kabuki Syndrome 1	Bilateral ptosis, Highly arched eyebrow, Prominent fingertip pads, Microcephaly, Recurrent aspira...	OMIM:147920
Immunodeficiency 49	Short palpebral fissure, Reduced cerebral white matter volume, Micrognathia, Natal tooth, Posteri...	OMIM:617237
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Abnormal rib morphology, Micromelia, Bra...	ORPHA:1318
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Shallow orbits, Opisthotonus, Short distal phalanx of finger, Increased density of...	OMIM:269150
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Inguinal hernia, Hypoplastic left atrium, Truncus arteriosus, Lo...	OMIM:601186
Cardiospondylocarpofacial Syndrome	Synostosis of carpal bones, Conductive hearing impairment, Short palm, Failure of eruption of per...	ORPHA:3238
Mucopolysaccharidosis, Type Ivb	Genu valgum, Prominent sternum, Osteoporosis, Bilateral talipes equinovarus, Joint stiffness, Hyp...	OMIM:253010
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Short palpebral fissure, Short nose, Retrognathia, Cubitus valgus, Short metatarsa...	OMIM:617157
Xp21 Deletion Syndrome	Reduced bone mineral density, Recurrent otitis media, Calf muscle hypertrophy, Osteoporosis, Grow...	ORPHA:261476
Melas	Hypoplasia of the corpus callosum, Optic atrophy, Concentric hypertrophic cardiomyopathy, Ragged-...	ORPHA:550
Brachydactyly-Arterial Hypertension Syndrome	Short stature, Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Achondroplasia	Narrow greater sciatic notch, Megalencephaly, Femoral bowing, Trident hand, Genu varum, Neonatal ...	OMIM:100800
Curry-Jones Syndrome	Megalencephaly, Chiari type I malformation, Unicoronal synostosis, Bicoronal synostosis, Polymicr...	OMIM:601707
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Postnatal growth retardation, Macrocephaly, Almond-shaped palpebral fissure, Frontal bossing, Dow...	ORPHA:529965
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Subperiosteal bone resorption, Enlargement of the costochondral junction, Delayed epiphy...	ORPHA:289157
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Frontotemporal cerebral atrophy, Restrictive behavior, Collectionism, Dis...	ORPHA:275864
Holoprosencephaly 14	Macrocephaly, Proboscis, Aortic valve atresia, Dandy-Walker malformation, Low-set ears, Cerebella...	OMIM:619895
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Short palpebral fissure, Sandal gap, Hyperactivity, Low-set ears, Frequent temper ...	OMIM:616078
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, Interphalangeal jo...	ORPHA:1145
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Hypertrophic cardiomyopathy, Sparse eyebrow, Neonatal death, Microgna...	OMIM:618810
Microphthalmia, Syndromic 3	Hypoplasia of the corpus callosum, Postnatal growth retardation, Optic nerve hypoplasia, Sensorin...	OMIM:206900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F...	OMIM:608940
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Decreased sensory nerve conduction velocity, Oral-pharyngeal dysphagia, Facial hyp...	OMIM:615273
Hypertension And Brachydactyly Syndrome	Type E brachydactyly, Short metacarpal, Short stature, Short phalanx of finger, Cone-shaped epiph...	OMIM:112410
Pilarowski-Bjornsson Syndrome	Postnatal growth retardation, Macrocephaly, Broad eyebrow, Prominent fingertip pads, Almond-shape...	OMIM:617682
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe postnatal growth retardation, Patent foramen ovale, Microtia, Low-set ears, Tapered finger...	OMIM:620005
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Genu valgum, Talipes equinovarus, Delayed eruption of teeth, D...	OMIM:225500
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Rhyns Syndrome	Osteopenia, Sensorineural hearing impairment, Short long bone, Osteoporosis, Short stature, Ptosi...	OMIM:602152
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial ...	OMIM:615503
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Delayed puberty, Generalized osteoporosis, Microcephaly, Lack of facial subcutaneous ...	ORPHA:2959
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Triphalangeal thumb, Abnormal tragus morphology, Abnormal metacarpa...	ORPHA:2673
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Broad thumb, Downslanted palpebral fissures, Micrognathia, Brachydactyly, Atria...	OMIM:614526
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Congenital muscular torticollis, Abnormal dental e...	ORPHA:2916
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Retrognathia, Rocker bottom foot, Camptodactyly, Microcephaly, Failur...	OMIM:604273
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hypoplasia of the corpus callosum, Inguinal hernia, Tibial torsion, Highly arched eyebrow, Patent...	OMIM:618653
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Abnormal pinna morphology, Low-set ears, Severe intrauterine growth retar...	OMIM:609069
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Hearing impairment, Short stature, Syndactyly, Brachydactyly, Clinodactyly	OMIM:610023
Autosomal Dominant Robinow Syndrome	Retrognathia, Severe short stature, Umbilical hernia, Coxa valga, Hip dislocation, Inguinal herni...	ORPHA:3107
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Lower limb undergrowth, Brachydactyly, Acne, Bowing of the legs	OMIM:612847
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Sensorineural hearing impairment, Low-set ears, Chiar...	ORPHA:2789
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cerebral atrophy, Inguinal hernia, Growth delay, Failure to thrive, Micrognathia, Atrial septal d...	OMIM:614857
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Highly arched eyebrow, Prominent fingertip pads,...	ORPHA:363611
Dentici-Novelli Neurodevelopmental Syndrome	Thin corpus callosum, Hypsarrhythmia, Microcephaly, Hearing impairment, Macrotia, Simplified gyra...	OMIM:619877
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the corpus callosum, Prominent occiput, Hitchhiker thumb, Sensorineural hearing imp...	OMIM:618500
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Recurrent otitis media, Abnormal Eustachian tube morphology, T...	ORPHA:513456
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Abnormal globus pallidus ...	ORPHA:99646
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Fadd-Related Immunodeficiency	Cerebral atrophy, Ventricular septal defect	ORPHA:306550
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Sensorineural hearing impairment, Calf muscle hypertrophy, E...	OMIM:618733
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Macrocephaly, Cardiac rhabdomyoma, Palmar pits, Short distal p...	OMIM:109400
Beaulieu-Boycott-Innes Syndrome	Short palpebral fissure, Long nose, Microcephaly, Carious teeth, Micrognathia, Dental malocclusio...	OMIM:613680
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Absent brainstem auditory responses, Growth delay, Head titubation, Diffuse ce...	ORPHA:3240
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment, Small cerebral cortex, Microcephaly, ...	OMIM:604804
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Inguinal hernia, Mandibular prognathia, Microcephaly, Growth delay, Lateral ventri...	ORPHA:85290
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Unilateral facial palsy, Atrioventricular canal defect, Thin corpus callosum, Tort...	OMIM:619480
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Hyperactivity, 2-3 toe syndactyly, Synophrys, Microcephaly, Ma...	ORPHA:391307
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Optic atrophy, Cloverleaf skull, Chiari malformation, Atresia of the ext...	OMIM:123790
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Upper eyelid entropion, Clinodactyly of the 5th...	ORPHA:457284
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Facial hypotonia, Diastasis recti, Low-set ears, Microcephaly, Motor stereotypy, U...	OMIM:616579
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Skin rash, Recurrent hand flapping, Pulmonic stenosis, Arachnodactyly, Slender bui...	OMIM:617600
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Osteopenia, Coxa vara, Hearing impairment, Short stature, Protrusio acetabuli, Den...	OMIM:610968
Spondylocostal Dysostosis 5	Pectus carinatum, Missing ribs, Supernumerary ribs, Posterior rib fusion, Vertebral fusion	OMIM:122600
Microform Holoprosencephaly	Short nose, EMG: myopathic abnormalities, Microcephaly, Short stature, Tetralogy of Fallot, Agene...	ORPHA:280200
Cerebrooculonasal Syndrome	Brachycephaly, Low-set, posteriorly rotated ears, Abnormal tragus morphology, Postaxial hand poly...	ORPHA:66625
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microtia, Microcephaly, Conductive hearing impairment, Failure to thriv...	OMIM:603467
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Clinodactyly of the 5th finger, Valvular pulmonary stenosis, Telecanthus, ...	OMIM:300707
Developmental And Epileptic Encephalopathy 30	Hypsarrhythmia, Motor stereotypy	OMIM:616341
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Short long bone, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb und...	OMIM:618961
Kleefstra Syndrome 2	Plagiocephaly, Microcephaly, Growth delay, Thick eyebrow, Self-injurious behavior	OMIM:617768
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Pitt-Hopkins Syndrome	Prominent fingertip pads, Clubbing, Microcephaly, Overlapping toe, Thickened helices, Clinodactyl...	OMIM:610954
Stankiewicz-Isidor Syndrome	Retrognathia, Hyperactivity, 2-3 toe syndactyly, Truncus arteriosus, Low-set ears, Abnormal optic...	OMIM:617516
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Telecanthus, Finger syndactyly, Short ...	ORPHA:1974
Orofaciodigital Syndrome Type 14	Hypoplasia of the corpus callosum, Supernumerary tooth, Deviation of the hallux, Low-set, posteri...	ORPHA:434179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the corpus callosum, Muscular dystrophy, Retrognathia, Macrocephaly, Adducted thumb...	OMIM:614643
Arthrogryposis, Distal, Type 4	Osteopenia, Hypoplastic helices, Tibial deviation of toes, Torticollis, Camptodactyly of 2nd-5th ...	OMIM:609128
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Costello Syndrome	Limited elbow movement, Rhabdomyosarcoma, Pulmonic stenosis, Mitral valve prolapse, Enlarged cere...	OMIM:218040
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Single transverse palmar crease, Mi...	OMIM:309801
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis	OMIM:614416
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Spondylo-Ocular Syndrome	Facial hypotonia, Abnormal antihelix morphology, Low-set ears, Osteoporosis, Short stature, Abnor...	ORPHA:85194
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Tracheomalacia, Low-set ears,...	OMIM:618797
Aicardi Syndrome	Optic atrophy, Plagiocephaly, Delayed puberty, Polymicrogyria, Aplasia/Hypoplasia of the cerebell...	ORPHA:50
Intellectual Developmental Disorder, Autosomal Dominant 34	Secondary microcephaly, Bilateral ptosis, 2-3 toe syndactyly, Synophrys, Hearing impairment, Epic...	OMIM:616351
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Increased carrying angle, Short stature, Ptosis, Brachydactyly, Mitral valve prolaps...	OMIM:247410
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Truncus arteriosus, Low-set ears, Microcephaly, Tetralogy of Fallot, Partial a...	OMIM:617478
X Small Rings	Bicuspid aortic valve, Protruding ear, Reduced bone mineral density, Clinodactyly of the 5th fing...	ORPHA:96201
Chst3-Related Skeletal Dysplasia	Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Delayed eruption of teeth, Highly ...	ORPHA:263463
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, Cerebral atrophy, Periventricular white matter hyperintensities, EEG ...	ORPHA:168491
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Increased arm span, Abnormal bone ossification, Thin metacarpal cortices, Slender lon...	ORPHA:2463
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Microcephaly, Short distal phalanx of finger, Ventricular se...	OMIM:601355
Cog1-Cdg	Osteopenia, Postnatal growth retardation, Rhizomelia, Low-set, posteriorly rotated ears, Talipes ...	ORPHA:263508
Multiple Pterygium Syndrome, X-Linked	Short finger, Thin ribs, Micrognathia, Flexion contracture, Vertebral fusion, Intrauterine growth...	OMIM:312150
Frontonasal Dysplasia 3	Brachycephaly, Upper eyelid coloboma, Low-set ears, Absent eyebrow, Sparse eyelashes, Posteriorly...	OMIM:613456
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Synophrys, Ptosis, Upslanted palpebral fissure, Overfolded helix, Aggressive behavior	OMIM:616083
Subependymal Nodular Heterotopia	Polymicrogyria, Abnormal bone structure, Interictal EEG abnormality, EEG with temporal focal spik...	ORPHA:101030
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Hypoplasia of the corpus callosum, Plagiocephaly, Secondary microcephaly, Optic atrophy, Cerebell...	OMIM:617193
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Bardet-Biedl Syndrome 4	Polydactyly, Obesity, Syndactyly, Brachydactyly	OMIM:615982
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Macrocephaly, Persistence of primary teeth, Overweight, Recurrent pneumonia, Umbilical hernia, At...	OMIM:619769
Lowry-Wood Syndrome	Irregular epiphyses, Dislocated radial head, Coxa vara, Joint stiffness, Microcephaly, Epiphyseal...	ORPHA:1824
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short long bone, Vertebral fusion, Bicuspid aortic valve, Double outlet right ventricle, Talipes ...	OMIM:618845
Duane Retraction Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Microcephaly, Absent radius, Hypopla...	ORPHA:233
Orofaciodigital Syndrome Iv	Cerebral atrophy, Short finger, Low-set ears, Porencephalic cyst, Foot polydactyly, Postaxial pol...	OMIM:258860
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Calcinosis, Short metatarsal, Delayed eruption of teeth, Increased bone min...	ORPHA:79444
Corpus Callosum Agenesis-Neuronopathy Syndrome	Turricephaly, Microcephaly, Agenesis of corpus callosum, Craniosynostosis, EEG abnormality	ORPHA:1496
Hydrolethalus Syndrome 1	Stillbirth, Abnormal cortical gyration, Anencephaly, Talipes equinovarus, Upper limb undergrowth,...	OMIM:236680
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu...	ORPHA:968
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Abnormal rib morphology, Sprengel anomaly, Abnormal vertebral se...	OMIM:118100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Secondary microcephaly, Patent foramen ovale, Aspiration pneumonia, Dystonia, Neonatal death, Lef...	OMIM:619167
Holoprosencephaly 13, X-Linked	Optic nerve hypoplasia, Patent foramen ovale, Microtia, Low-set ears, Septo-optic dysplasia, Micr...	OMIM:301043
Cartilage-Hair Hypoplasia	Limited elbow extension, Brachycephaly, Neonatal short-limb short stature, Aganglionic megacolon,...	OMIM:250250
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c...	ORPHA:3068
Larsen Syndrome	Multiple carpal ossification centers, Short metacarpal, Shallow orbits, Dislocated wrist, Joint h...	OMIM:150250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hearing impairment, Ventricular septal defect, Agenesis of corpus callosum, Growth delay	ORPHA:77298
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla...	ORPHA:2098
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Telecanthus, Flared metaphysis, ...	OMIM:252100
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Hypoplasia of the radius, Microcephaly, Absent thumb, Short thumb, ...	OMIM:610832
Cockayne Syndrome Type 2	Scarring, Hypoplasia of the primary teeth, Subcortical white matter calcifications, Limb hyperton...	ORPHA:90322
Microphthalmia, Syndromic 6	Retrognathia, Inferior cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Abnormality of th...	OMIM:607932
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypoplasia of the corpus callosum, Ankle flexion contracture, Protruding ear, Small for gestation...	ORPHA:464311
Ellis Van Creveld Syndrome	Neonatal short-limb short stature, Situs inversus totalis, Atrioventricular canal defect, Genu va...	ORPHA:289
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Secundum atrial septal defect	OMIM:601321
Hyperinsulinemic Hypoglycemia, Familial, 8	Attention deficit hyperactivity disorder, Atrial septal defect, Short stature, Growth delay	OMIM:620211
Hyperparathyroidism, Transient Neonatal	Osteopenia, Brachycephaly, Subperiosteal bone formation, Inguinal hernia, Fractured rib, Low-set ...	OMIM:618188
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Abnormal ...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Abnormal ...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Abnormal ...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal pinna morphology, Abnormal ...	ORPHA:881
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis, Brachydactyly	ORPHA:2762
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Short nose, Aplasia of the distal phalanx of the 5th toe, Telecanthus, S...	ORPHA:364577
Developmental And Epileptic Encephalopathy 102	Microcephaly, Situs inversus totalis, Atrial septal defect	OMIM:619881
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Polymicrogyria, Microcephaly, Ptosis, Colpocephaly, Protruding ear, Cerebellar hyp...	OMIM:618731
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Optic nerve hypoplasia, Low-set ears, Brachyturricephaly, Broad proximal phalanges o...	OMIM:607597
Muckle-Wells Syndrome	Optic atrophy, Delayed puberty, Macrocephaly, Recurrent aphthous stomatitis, Arthritis, Skin rash...	ORPHA:575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hypoplasia of the corpus callosum, Muscular dystrophy, Optic atrophy, Polymicrogyria, Type II lis...	OMIM:236670
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Telecanthus, Mandibular prognathia, Mi...	ORPHA:1236
Cleidocranial Dysplasia 2	Osteopenia, Plagiocephaly, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wid...	OMIM:620099
Silver-Russell Syndrome Due To A Point Mutation	Intrauterine growth retardation, Oligohydramnios, Small placenta	ORPHA:397590
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallot, Ventricular septal def...	OMIM:615779
Shukla-Vernon Syndrome	Cerebellar atrophy, Impulsivity, Downslanted palpebral fissures, Long fingers, Motor stereotypy, ...	OMIM:301029
Aicardi Syndrome	Optic atrophy, Postnatal growth retardation, Proximal placement of thumb, Lipoma, Cavum septum pe...	OMIM:304050
Hajdu-Cheney Syndrome	Dislocated radial head, Crowded carpal bones, Umbilical hernia, Pathologic fracture, Joint hyperm...	OMIM:102500
Hydrolethalus Syndrome 2	Anencephaly, Postaxial hand polydactyly, Micrognathia, Agenesis of corpus callosum, Preaxial foot...	OMIM:614120
Septooptic Dysplasia	Polydactyly, Short finger, Optic nerve hypoplasia, Short stature, Agenesis of corpus callosum, Ab...	OMIM:182230
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Thin corpus callosum, Tongue thrusting, Limb hypertonia, Recurrent hand flapping, Cerebellar atro...	OMIM:619580
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Disproportionate short-limb short stature, Delayed ossification of carpal bones, Relative macroce...	OMIM:271510
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Abnormal cortical gyration, Finger syndactyly, Polymicrogyria, Low-set ears, Broad...	ORPHA:2211
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol...	OMIM:617137
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Thin corpus callosum, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Dystonia, ...	OMIM:619653
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Short iliac bones, Chronic tubulointerstitial nephritis, Rhizomelia, Inguinal hernia, Broad long ...	OMIM:614376
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Wrinkly Skin Syndrome	Progressive microcephaly, Microcephaly, Umbilical hernia, Intrauterine growth retardation, Joint ...	OMIM:278250
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Popliteal pterygium, Fibular hypoplasia, Abnormal femur morphology, F...	ORPHA:3329
Holoprosencephaly 11	Microcephaly, Thick eyebrow, Agenesis of corpus callosum, Synophrys	OMIM:614226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Cerebellar cyst, Skeletal muscle hypertrophy, Type II lissencephaly, Congenit...	OMIM:613150
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short humerus, Tapered finger	OMIM:618367
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Low-set e...	OMIM:243605
Cdags Syndrome	Brachycephaly, Ectropion, Lambdoidal craniosynostosis, Parietal foramina, Sensorineural hearing i...	OMIM:603116
Osteogenesis Imperfecta, Type Xv	Joint hypermobility, Thin ribs, Bowing of limbs due to multiple fractures, Recurrent fractures	OMIM:615220
Acrofrontofacionasal Dysostosis 1	Brachycephaly, S-shaped palpebral fissures, Mixed hearing impairment, Optic atrophy, Acetabular d...	OMIM:201180
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito...	OMIM:600501
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger	OMIM:140450
Multiple Pterygium-Malignant Hyperthermia Syndrome	Arachnodactyly, Severe short stature, Advanced eruption of teeth, Inguinal hernia, Congenital mus...	ORPHA:2215
Sprengel Deformity	Sprengel anomaly, Rib segmentation abnormalities, Shoulder muscle hypoplasia	OMIM:184400
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous...	OMIM:613751
Polysyndactyly With Cardiac Malformation	Stillbirth, Atrial septal defect, Ventricular septal defect	OMIM:263630
Keutel Syndrome	Optic atrophy, Recurrent otitis media, Hearing impairment, Short stature, Recurrent sinusitis, Sh...	ORPHA:85202
Neurodevelopmental Disorder With Language Delay And Seizures	Obsessive-compulsive trait, Thin corpus callosum, Growth delay, Diffuse cerebral atrophy, Attenti...	OMIM:619908
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Joint stiffness, Epiphyseal dysplasia, Failure to th...	ORPHA:583
Sillence Syndrome	Short finger, Chess-pawn distal phalanges, Large tarsal bones, Abnormal proximal phalanx morpholo...	ORPHA:3168
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Abnormal temper tantrums, Increased body weight, Compulsive behaviors, Impulsivity, O...	ORPHA:398069
Heterotaxy, Visceral, 1, X-Linked	Short long bone, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrocephaly, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Ventricular s...	OMIM:618504
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Short finger, Ventricular septal hypertrophy, Aplasia of the distal phal...	OMIM:608670
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Osteolysis, Fused cervical vertebrae, Flaring of rib cage, Broad ribs, F...	OMIM:612852
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Short nose, Turricephaly, Megalencephaly, Macrocephaly, Aganglionic megacolon, Mic...	OMIM:613603
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Abnormal basal ganglia morp...	ORPHA:157
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, 2-3 toe syndactyly, Frontal bossing, Vertebral fusion, Motor stereotypy, Attention...	ORPHA:313892
Tarsal-Carpal Coalition Syndrome	Short finger, Tarsal synostosis, Radial deviation of finger, Distal symphalangism of hands, Cubit...	OMIM:186570
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Optic atrophy, Hyperactivity, Cerebral calcification, Dandy-Walker ma...	OMIM:617281
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Abnormal pinna morphology, Low-set ears, Microcephaly, Micrognathia, Wide nasal br...	ORPHA:77300
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Weakness of facial musculat...	ORPHA:70
Mckusick-Kaufman Syndrome	Tarsal synostosis, Aganglionic megacolon, Abnormal metacarpal morphology, Finger syndactyly, Post...	ORPHA:2473
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Ventricular septal defect, Anomalous pulmonary venous ret...	ORPHA:860
Floating-Harbor Syndrome	Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad thu...	OMIM:136140
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Ventricular septal defect, Aganglionic megacolon, Preaxial foot polydac...	OMIM:235750
Rett Syndrome	Agitation, Progressive microcephaly, Abnormal autonomic nervous system physiology, Stereotypical ...	ORPHA:778
Adams-Oliver Syndrome 5	Inguinal hernia, Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Syndactyly, R...	OMIM:616028
Grange Syndrome	Short palm, Ventricular septal defect, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Townes-Brocks Syndrome	Delayed puberty, Absent toe, Abnormal pinna morphology, Microtia, Broad thumb, Aplasia/Hypoplasia...	ORPHA:857
Cerebral Creatine Deficiency Syndrome 1	Hypoplasia of the corpus callosum, Underfolded superior helices, Aganglionic megacolon, Mandibula...	OMIM:300352
Autosomal Recessive Spondylocostal Dysostosis	Short thorax, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Rib fusion, In...	ORPHA:2311
Multiple Pterygium Syndrome, Lethal Type	Short finger, Thin ribs, Micrognathia, Flexion contracture, Vertebral fusion, Intrauterine growth...	OMIM:253290
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, 2-4 toe cutaneous syndactyly, Aortic valve stenosis, Microcephaly, Abnormal heart m...	ORPHA:268261
Opsismodysplasia	Rhizomelia, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypoplastic pubic bone, Short ...	OMIM:258480
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Fused cervical vertebrae, Agenesis of corpus callosum	ORPHA:238722
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Diaphyseal dysplasia, Macrocephaly, Optic nerve compression, 3-4 finger syndactyly...	OMIM:619727
White-Kernohan Syndrome	Retrognathia, Joint hypermobility, Horizontal eyebrow, Hip dysplasia, Broad medial eyebrow, Recur...	OMIM:619426
Noonan Syndrome 10	Cubitus valgus, Palmoplantar cutis laxa, Relative macrocephaly, Low-set ears, Hypertrophic cardio...	OMIM:616564
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly, Broad distal phalanx of finger, Low-set, posteriorly rotated ears, Proximal placem...	ORPHA:2988
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Microcephaly, Motor stereotypy, Joint hypermobility, Cr...	OMIM:618906
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Ventricular septal hypertrophy, Inguinal hernia, Single transverse palmar crease, ...	OMIM:614947
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Postnatal growth retardation, Plagiocephaly, Chalazion, Slender finger, Microcephaly, Hearing imp...	OMIM:613355
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Long nose, Palmoplantar keratoderma, Ptosis, Micrognathia, Arachnodactyly, Brachydactyly, Joint h...	ORPHA:2824
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis	OMIM:612247
X-Linked Intellectual Disability, Nascimento Type	Macrocephaly, Patent foramen ovale, Hypointensity of cerebral white matter on MRI, Compulsive beh...	ORPHA:163956
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Abnormal basal ganglia morp...	ORPHA:228308
Mowat-Wilson Syndrome	Pulmonic stenosis, Generalized muscle hypertrophy, Microcephaly, Abnormal heart morphology, Abnor...	OMIM:235730
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Omphalocele, Foot oligodactyly, Short femur, Ventricular septal defect, Absent sept...	OMIM:601357
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Finger syndactyly, Sensorineu...	ORPHA:139471
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Disproportionate short stature, Dislocated radial head, Progressive...	OMIM:617425
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Hypoplasia of the corpus callosum, Atrial septal defect, Macrocephaly, Flared metaphysis, Increas...	OMIM:620558
Dyssegmental Dysplasia, Silverman-Handmaker Type	Disproportionate short-limb short stature, Pterygium, Short long bone, Bowing of the long bones, ...	OMIM:224410
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Inguinal hernia, Facial hypotonia, Single transverse palmar crease, Microcephaly, ...	OMIM:618106
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly, Macrocephaly, Torticollis, Hypoplasia of the pons, Cerebellar hypoplasia	OMIM:607313
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Hypoplasia of the corpus callosum, Postaxial hand polydactyly, Microcephaly, Epicanthus, Atrial s...	ORPHA:2519
Beckwith-Wiedemann Syndrome	Subchorionic septal cyst, Large placenta, Polyhydramnios, Premature birth, Elevated circulating a...	ORPHA:116
Enthesitis-Related Juvenile Idiopathic Arthritis	Thickened Achilles tendon, Abnormal heart morphology, Mitral valve prolapse, Anterior uveitis, Li...	ORPHA:85438
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Short long bone, Short ribs, Limitation of joint mobility, Split hand, Ir...	OMIM:252600
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Short metacarpal, Tarsal synostosis, ...	OMIM:272460
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612462
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Narrow chest, Crumpled long bones, Femoral retroversion, Recurrent fractu...	OMIM:610682
Klippel-Trénaunay Syndrome	Macrocephaly, Abnormal tricuspid valve morphology, Microcephaly, Upper limb asymmetry, Cellulitis...	ORPHA:90308
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Microcephaly, Abnormal helix morphology, Biparietal narrowing, Frontal bossing, ...	ORPHA:261337
Wrinkly Skin Syndrome	Progressive microcephaly, Thick cerebral cortex, Slender long bones with narrow diaphyses, Umbili...	ORPHA:2834
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Short palpebral fissure, Short nose, Highly arched eyebrow, Decreased body weight,...	OMIM:619005
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Pulmonic stenosis, Abnormal heart morphology, Dysphagia, Bicuspid aortic valve, Joi...	ORPHA:438213
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Short palpebral fissure, EEG with burst suppression, Hypsarrhythmia, Synophrys, Mi...	OMIM:618792
Cat Eye Syndrome	Tricuspid atresia, Low-set ears, Total anomalous pulmonary venous return, Pulmonic stenosis, Hear...	OMIM:115470
Orofaciodigital Syndrome Xix	Retrognathia, Low-set ears, Postaxial hand polydactyly, Type A brachydactyly, Frontal bossing, Do...	OMIM:620107
Yao Syndrome	Arthritis, Skin rash, Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin...	OMIM:617321
Branchioskeletogenital Syndrome	Brachycephaly, Mixed hearing impairment, Blepharochalasis, Telecanthus, Highly arched eyebrow, At...	ORPHA:1299
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Slender long bone, Optic disc pal...	ORPHA:420179
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Congenital hip dislocation, Failure to thrive, Tetralo...	ORPHA:2970
Dahlberg-Borer-Newcomer Syndrome	Telecanthus, Short stature, Brachydactyly, Mitral valve prolapse, Short distal phalanx of finger,...	ORPHA:1563
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Sandal gap, Hyperactivity, Mandibular prognathia, Recurrent hand flapping, Self-mu...	OMIM:615516
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Sensorineural hearing impairment, Femoral bowing, Dumbbell-shaped long bone, Micromel...	ORPHA:440354
Nivelon-Nivelon-Mabille Syndrome	Thin corpus callosum, Cerebellar vermis hypoplasia, Short metacarpal, Micromelia, Microcephaly, S...	OMIM:600092
Biliary, Renal, Neurologic, And Skeletal Syndrome	Situs inversus totalis, Atrioventricular canal defect, Inlet ventricular septal defect, Dextrocar...	OMIM:619534
Noonan Syndrome 1	Postnatal growth retardation, Radial deviation of finger, Cubitus valgus, Dental malocclusion, Se...	OMIM:163950
Kinsship Syndrome	Dislocated radial head, Microcephaly, Mesomelia, Bruxism, Primary microcephaly, Coxa valga, Hip d...	OMIM:619297
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Thin ribs, Narrow iliac wing, Pectus excavatum, Coronal ...	OMIM:616294
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Telecanthus, Omphalocele, Epicanthus, Overriding aorta, Atrial septal defect, Ventricular septal ...	OMIM:601927
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo...	OMIM:616507
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Microcephaly, 2-4 toe synda...	OMIM:150230
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Narrow chest, Thin ribs, Elbow flexion contract...	OMIM:200980
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Low-set, posteriorly rotated ears, Sensorineur...	ORPHA:96129
Noonan Syndrome	Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Low-set, posteriorly ro...	ORPHA:648
Joubert Syndrome 1	Dysgenesis of the cerebellar vermis, Hyperactivity, Highly arched eyebrow, Microcephaly, Clinodac...	OMIM:213300
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi...	OMIM:614091
Feingold Syndrome 1	Short palpebral fissure, Tricuspid atresia, Prominent occiput, 2-3 toe syndactyly, Low-set ears, ...	OMIM:164280
Pfeiffer Syndrome Type 3	Short nose, Tracheomalacia, Short hallux, Finger syndactyly, Limitation of joint mobility, Brachy...	ORPHA:93260
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno...	OMIM:214300
Bresek Syndrome	Plagiocephaly, Aganglionic megacolon, Optic nerve hypoplasia, Low-set ears, Postaxial hand polyda...	ORPHA:85284
Developmental And Epileptic Encephalopathy 100	Cerebral atrophy, Short palpebral fissure, Thin corpus callosum, Bilateral camptodactyly, Polymic...	OMIM:619777
Bardet-Biedl Syndrome 9	Polydipsia, Polydactyly, Postaxial hand polydactyly, Polyphagia, Postaxial polydactyly, Obesity, ...	OMIM:615986
Fanconi Anemia, Complementation Group C	Absent radius, Microcephaly, Hearing impairment, Complete duplication of thumb phalanx, Short sta...	OMIM:227645
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Pa...	OMIM:265380
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Growth delay, Brachydacty...	OMIM:244600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Short nose, Deep palmar crease, Telecanthus, Cerebral calcification, Patent forame...	ORPHA:505248
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Mandibular prognathia, Recurrent...	ORPHA:449291
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Cooks Syndrome	Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Sensorineural hearing impairment...	OMIM:215150
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Short...	ORPHA:2307
Infantile Systemic Hyalinosis	Osteopenia, Macrocephaly, Osteoporosis, Micromelia, Joint stiffness, Camptodactyly of finger, Sho...	ORPHA:2176
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplasia of the radius, Triphalangeal thumb, Parietal foramina, Tricuspid stenosi...	OMIM:105650
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Genu valgum, Progressive microceph...	ORPHA:488627
Hydrolethalus	Retrognathia, Anencephaly, Low-set, posteriorly rotated ears, Low-set ears, Postaxial hand polyda...	ORPHA:2189
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hypoplastic pelvis, Split foot, Upper limb asymmetry, Abnormal p...	ORPHA:2092
Septo-Optic Dysplasia Spectrum	Polydipsia, Optic nerve hypoplasia, Sensorineural hearing impairment, Septo-optic dysplasia, Shor...	ORPHA:3157
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Cerebral dysmyelination, Decreased nerve conduction velocity, Torticollis, Agan...	OMIM:609136
Pallister-Hall Syndrome	Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly,...	OMIM:146510
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short nose, Genu valgum, Abnormal metacarpal morphology, Telecanthus, Synophrys, Joint stiffness,...	ORPHA:1295
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Low-set ears, Atresia of the external auditory canal,...	ORPHA:2328
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Abnormality of the palmar creases, Mandibular prognathia, Bilateral sensorineural ...	ORPHA:521445
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly, Optic atrophy, Clinodactyly of the 5th finger, Short stature	ORPHA:1173
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	ORPHA:2438
Isotretinoin-Like Syndrome	Postnatal growth retardation, Inguinal hernia, Aplasia/Hypoplasia of the inner ear, Abnormal card...	ORPHA:2306
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Long nose, Macrocephaly, Hyperactivity, Cerebellar vermis hypoplasia, Mandibular prognathia, Retr...	OMIM:300486
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Recombinant 8 Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger,...	ORPHA:96167
Adams-Oliver Syndrome 1	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Polymicrogyria, Cortical dysplas...	OMIM:100300
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Reduced bone mineral density, Inguinal hernia, Short stature, Joint hypermobility, Atrial septal ...	OMIM:619115
Treacher-Collins Syndrome	Brachycephaly, Retrognathia, Abnormality of bone mineral density, Absent eyelashes, Abnormal dent...	ORPHA:861
Garg-Mishra Progeroid Syndrome	Narrow chest, Slender long bone, Thin ribs, Micrognathia, Slender metacarpals, Broad palm, Coxa v...	OMIM:620601
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Lacrimal duct atresia, Failure to thrive, Agenesis of corpus callosu...	OMIM:300952
Genitopalatocardiac Syndrome	Transposition of the great arteries, Low-set ears, Micrognathia, Double outlet right ventricle, V...	OMIM:231060
Hypocomplementemic Urticarial Vasculitis	Inflammatory abnormality of the eye, Abnormal heart valve morphology, Arthritis, Skin rash, Senso...	ORPHA:36412
Joubert Syndrome 23	Dysplastic corpus callosum, Sensorineural hearing impairment, Polydactyly, Cerebellar dysplasia	OMIM:616490
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Mixed hearing impairment, Short metacarpal, Microcephaly, Split ...	OMIM:305600
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Oculocerebrocutaneous Syndrome	Finger syndactyly, Missing ribs, Abnormal rib morphology, Congenital hip dislocation, Aplasia/Hyp...	ORPHA:1647
Distal Deletion 9P	Short nose, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Abnormal antih...	ORPHA:1642
Cranioectodermal Dysplasia 3	Macrocephaly, Rhizomelia, Telecanthus, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Fro...	OMIM:614099
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Mandibular prognathia, Relative macrocephaly, Low-...	OMIM:612813
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Stomatitis, Skin rash, Microtia, Low-set ears, Short stature, Failure to thrive, Ep...	OMIM:277380
Cree Mental Retardation Syndrome	Brachycephaly, Rocker bottom foot, Low-set ears, Ptosis, Downslanted palpebral fissures, Microgna...	OMIM:606851
Fetal Akinesia Deformation Sequence 1	Stillbirth, Short umbilical cord, Polyhydramnios, Small placenta, Fetal akinesia sequence, Wrist ...	OMIM:208150
Monosomy 13Q14	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thum...	ORPHA:1587
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Lacrimal duct aplasia, Intrauterine growth retardation, Clino...	OMIM:620186
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Sensorineural hearing impairment, Patent foramen ovale, Ptosis, Tetralogy of Fallot, Agenesis of ...	OMIM:618748
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, EEG with occipital focal spikes, Umbilical hernia, Cholecystitis,...	OMIM:301066
Distal Deletion 6P	Clinodactyly of the 5th finger, Low-set ears, Hearing impairment, Short palm, Downslanted palpebr...	ORPHA:96125
Alzahrani-Kuwahara Syndrome	Cavum septum pellucidum, Patent foramen ovale, Coronary sinus enlargement, Low-set ears, Eczemato...	OMIM:619268
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Macrocephaly, Clubbing of fingers, Broad phalanx of the toes, Cachexia,...	ORPHA:79076
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Failure to thrive, Lipodystrophy, Brachydactyly, Neutrophilic infiltration of the skin...	OMIM:618048
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal...	OMIM:601957
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Hyperplasia of the maxilla, Large for gestational age, Telecanthus, Slen...	OMIM:612731
Floating-Harbor Syndrome	Long nose, Mesocardia, Dislocated radial head, Cochlear malformation, Impulsivity, Short metacarp...	ORPHA:2044
Schwartz-Jampel Syndrome	Flexion contracture of toe, Pectus carinatum, Cachexia, Pectus excavatum, Wrist flexion contractu...	ORPHA:800
Rabson-Mendenhall Syndrome	Polydipsia, Polydactyly, Advanced eruption of teeth, Severe postnatal growth retardation, Mandibu...	ORPHA:769
8P11.2 Deletion Syndrome	Abnormal pinna morphology, Microcephaly, Short stature, Micrognathia, Growth delay, Epicanthus, M...	ORPHA:251066
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Plagiocephaly, Cerebral cortical atrophy, Prominent occiput	ORPHA:1665
Developmental And Epileptic Encephalopathy 6B	EEG with spike-wave complexes (>3.5 Hz), Dystonia, Motor stereotypy, Multifocal epileptiform disc...	OMIM:619317
Chiari Malformation Type Ii	Limb muscle weakness, Opisthotonus, Dysphagia, Agenesis of corpus callosum, Chiari malformation	OMIM:207950
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of ...	OMIM:618618
Frontorhiny	Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Camptodactyly of finger, Ptosis, Ep...	ORPHA:391474
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge...	ORPHA:2769
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Triphalangeal thumb, Microtia, Abnormality of the upper limb,...	ORPHA:124
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Pulmonic stenosis, Sinusitis, Abnormal heart morphology, Mitral valve prolapse, Joint hypermobili...	ORPHA:363700
Pyruvate Carboxylase Deficiency	Anorexia, Abnormal temper tantrums, Cerebral white matter atrophy, Tremor, Recurrent hand flappin...	ORPHA:3008
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Microcephaly, Growth delay, Short stature, Epicanthus, Protruding ear, Atrial septal defect, Macr...	ORPHA:93947
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Telecanthu...	ORPHA:1190
Congenital Disorder Of Glycosylation, Type Iim	Cerebral atrophy, Hypoplasia of the corpus callosum, Hypsarrhythmia, Mandibular prognathia, Micro...	OMIM:300896
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Cantú Syndrome	Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Osteoporosis, Broa...	ORPHA:1517
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Abnormal temper tantrums, Hypoplasia of the corpus callosum, Delayed puberty, Bact...	ORPHA:2072
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo...	ORPHA:1657
Spondyloocular Syndrome	Osteopenia, Femur fracture, Long toe, Sensorineural hearing impairment, Low-set ears, Decreased b...	OMIM:605822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Macrocephaly, Patent foramen ovale, Pericardial effusion, Exercise-induced ...	ORPHA:26793
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Optic disc coloboma, Atrial se...	OMIM:241310
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Ventricular septal defect, Anencephaly, Hypoplastic left heart	ORPHA:2476
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Retrognathia, Muscular ventricular septal defect, Fused cervical vertebrae, Low-se...	OMIM:619227
Fanconi Anemia, Complementation Group B	Hypoplasia of the corpus callosum, Low-set ears, Growth delay, Bilateral radial aplasia, Absent t...	OMIM:300514
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Sensorineural hearing impairment, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Low-set ears, Short stature, Neonatal ...	OMIM:619859
Bent Bone Dysplasia Syndrome 1	Hypoplastic pubic bone, Short clavicles, Low-set ears, Coronal craniosynostosis, Decreased calvar...	OMIM:614592
Kniest Dysplasia	Bilateral ptosis, Macrocephaly, Fused cervical vertebrae, Enlarged metaphyses, Delayed epiphyseal...	ORPHA:485
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Ragged-red muscle fibers, Ptosis, ...	OMIM:614924
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Aortic valve atresia, Highly arched eyebrow, Cerebellar vermis hypoplasia, Small...	OMIM:220111
Robinow-Sorauf Syndrome	Bilateral ptosis, Plagiocephaly, Long nose, Shallow orbits, Broad thumb, Downslanted palpebral fi...	OMIM:180750
Aicardi-Goutières Syndrome	Lipoatrophy, Cerebral calcification, Chilblains, Microcephaly, Cardiomegaly, Tremor, Short statur...	ORPHA:51
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Joint stiffness, Aortic valve stenosis, Thickened hel...	OMIM:231050
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Partial ...	ORPHA:1330
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy	ORPHA:101028
Hydrocephalus, Congenital, X-Linked	Macrocephaly, Corticospinal tract hypoplasia, Thumb contracture, Agenesis of corpus callosum, Add...	OMIM:307000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela...	ORPHA:93346
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Hypoplas...	OMIM:617866
Timothy Syndrome	Pneumonia, Patent foramen ovale, Cutaneous syndactyly, Tetralogy of Fallot, Cardiomegaly, Ventric...	OMIM:601005
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Cerebral cortical atrophy, Dystonia, Disinhibition, Motor stereotypy, Res...	OMIM:600795
Holoprosencephaly 7	Short nose, Macrocephaly, Hypoplasia of the brainstem, Cranial asymmetry, Omphalocele, Shallow or...	OMIM:610828
Feingold Syndrome	Short palpebral fissure, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Abnorm...	ORPHA:1305
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Bell-shaped t...	OMIM:616300
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Thin ribs, Osteolytic defects of the distal phalanges of the hand, Osteop...	OMIM:614008
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Broad lateral eyebrow, Low-set ears, Long eyelashes, Frontal bossing, P...	OMIM:608624
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Arachnodactyly, Micrognathia, Partial duplication of thumb pha...	OMIM:616730
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Short stature, Brachydactyly	OMIM:613382
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Clinodactyly of the 5th finger, Optic nerve hypoplasia, Increased femoral anteversion, Motor ster...	OMIM:620502
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Inguinal hernia, Hearing impairment, Frontal bossing, Shor...	ORPHA:3218
Severe Congenital Nemaline Myopathy	Thin ribs, Multiple prenatal fractures, Flexion contracture, Adducted thumb, Arthrogryposis multi...	ORPHA:171430
Pgm3-Cdg	Chronic otitis media, Failure to thrive, Sensorineural hearing impairment, Esophagitis, Atopic de...	ORPHA:443811
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Thin ribs, Flexion contracture, Congenital contracture	OMIM:615368
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal rib morphology	ORPHA:93941
X-Linked Intellectual Disability, Cantagrel Type	Hypoplasia of the corpus callosum, Short nose, Cerebral cortical atrophy, Motor stereotypy	ORPHA:85277
Radio-Renal Syndrome	Hypoplasia of the radius, Abnormal rib morphology, Micromelia, Short palm, Micrognathia, Brachyda...	ORPHA:3015
Williams Syndrome	Chronic otitis media, Sensorineural hearing impairment, Joint stiffness, Pulmonic stenosis, Micro...	ORPHA:904
Phace Syndrome	Abnormality of the orbital region, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephal...	ORPHA:42775
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Hearing impairment, Limited pronation/supination of forea...	ORPHA:1724
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Dysplastic corpus callosum, Arthritis, Short stature, Generalized amyotro...	OMIM:619423
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the hand, Abnormal shoulder morphology, Abnormality of the temporomandibular joint...	ORPHA:85408
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metac...	ORPHA:3138
Dihydropyrimidinase Deficiency	Plagiocephaly, Hyperactivity, Abnormal pyramidal tract morphology, Microcephaly, Short phalanx of...	OMIM:222748
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Micrognathia, Abnormal rib morphology	OMIM:601076
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Retrognathia, Posterolateral diaphragmatic hernia, Inguinal hernia, Tracheomalacia, S...	OMIM:613177
Bardet-Biedl Syndrome 1	Radial deviation of finger, Macrocephaly, Aganglionic megacolon, Postaxial hand polydactyly, Hear...	OMIM:209900
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Sensorineural hearing impairment, Cachexia, A...	ORPHA:828
Au-Kline Syndrome	Retrognathia, Sensorineural hearing impairment, Microtia, Shallow orbits, Overlapping toe, Cranio...	OMIM:616580
Wolcott-Rallison Syndrome	Decreased body weight, Microcephaly, Short stature, Growth delay, Metaphyseal dysplasia, Double o...	ORPHA:1667
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Thin corpus callosum, Optic nerve hypoplasia, Abnormality of the anterior commissure, Dysphagia, ...	ORPHA:572013
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Relative macrocephaly, Aortic valve stenosis, Umbilical hernia, ...	OMIM:601803
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Okamoto Syndrome	Hypoplasia of the corpus callosum, Short nose, Polydactyly, Abnormal left ventricle morphology, S...	ORPHA:2729
Trisomy 8Q	Deep palmar crease, Low-set, posteriorly rotated ears, Bone cyst, Joint stiffness, Camptodactyly ...	ORPHA:1752
Neuroocular Syndrome	Retrognathia, Highly arched eyebrow, Prominent fingertip pads, Microcephaly, Umbilical hernia, Na...	OMIM:619539
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Absent eyelashes, Lacrimal duct atresia, 2-3 toe syndactyly, Sparse eyelashes, Blepharitis, Atres...	OMIM:106260
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Sensorineural hearing impairment, Tibial bowing, Mitral valv...	ORPHA:500095
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Atresia of the external auditory canal, Ventricular septal defect, Talipes equinovarus	OMIM:209770
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Pyelonephritis, Short first metatars...	OMIM:140000
Williams-Beuren Syndrome	Sensorineural hearing impairment, Pulmonic stenosis, Mitral valve prolapse, Umbilical hernia, Bic...	OMIM:194050
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Skeletal muscle h...	OMIM:600705
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic...	OMIM:614980
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Abnormal tibia morphology, Anencephaly, Split hand, Omphalocele,...	ORPHA:1335
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Panniculitis, Abnormal eyelid morphology, Abnormal nasolacrimal system morphology,...	ORPHA:2526
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Sandal gap, Scarring alopecia of scalp, Persistence of primary teeth, Enamel hypop...	OMIM:618727
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage, Hypoalbuminemia	OMIM:610965
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microtia, Abnormally ossified vertebrae, Septo-optic dysplasia, Aplasia/Hypoplasia...	ORPHA:3301
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Aortic valve steno...	OMIM:617660
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Neonatal short-limb short stature, Short long bone, Limitation of j...	OMIM:224400
Cutis Laxa, Autosomal Recessive, Type Iic	Entropion, Patent foramen ovale, Mandibular prognathia, Low-set ears, Hip dysplasia, Camptodactyl...	OMIM:617402
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Righ...	ORPHA:555874
Galloway-Mowat Syndrome 4	Cerebral atrophy, Plagiocephaly, Polymicrogyria, Short stature, Protruding ear, Cerebellar hypopl...	OMIM:617730
Coffin-Siris Syndrome 11	Frontal bossing, Uplifted earlobe, Agenesis of corpus callosum, Small hand	OMIM:618779
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Vertebral fusion, Rib fusion	OMIM:277300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Pituitary dwarfism, Optic nerve hypoplasia, Sensorineural hearing impairment, Growt...	ORPHA:226307
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Obesity	ORPHA:521390
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Joint stiffness, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum	ORPHA:2182
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Low-set ears, Postaxial hand polydactyly, Downslanted palpebral fissures, Microg...	OMIM:235255
Oculoectodermal Syndrome	Macrocephaly, Giant cell granuloma of mandible, Hyperactivity, Hypertrophic cardiomyopathy, Growt...	OMIM:600268
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Banki Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo...	ORPHA:1228
Loeys-Dietz Syndrome 2	Retrognathia, Arachnodactyly, Syndactyly, Mitral valve prolapse, Umbilical hernia, Bicuspid aorti...	OMIM:610168
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Intrauterine growth retardation, Overriding aorta, EEG abnormality, Ventricular septal defect, Sm...	OMIM:617021
Charge Syndrome	Pulmonic stenosis, Secundum atrial septal defect, Tetralogy of Fallot, Dysplastic tricuspid valve...	OMIM:214800
Elsahy-Waters Syndrome	Brachycephaly, Agenesis of incisor, Supernumerary tooth, Cervical C2/C3 vertebral fusion, Delayed...	OMIM:211380
Cinca Syndrome	Arthritis, Skin rash, Hearing impairment, Frontal bossing, Papilledema, Growth delay, Eosinophili...	OMIM:607115
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal earlobe morphology, Hyperactivity, Pericardi...	ORPHA:3310
Meester-Loeys Syndrome	Broad distal phalanx of finger, Relative macrocephaly, Camptodactyly, Short stature, Frontal boss...	OMIM:300989
6Q Terminal Deletion Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Short palpebral fissure, Macrocephaly, Low-set,...	ORPHA:75857
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense lo...	OMIM:269500
Spondyloepiphyseal Dysplasia Congenita	Increased head circumference, Limited elbow movement, Reduced bone mineral density, Genu valgum, ...	ORPHA:94068
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Pericardial And Diaphragmatic Defect	Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	ORPHA:2847
Bdv Syndrome	Delayed puberty, Macrotia, Micrognathia, Obesity, Atrial septal defect	OMIM:619326
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Aganglionic megacolon, Brachydactyly, Short distal phalanx of the thumb	ORPHA:2150
Congenital Heart Block	Intrauterine growth retardation, Pericardial effusion, Patent foramen ovale, Endocardial fibroela...	ORPHA:60041
Hartsfield Syndrome	Hypoplasia of the frontal bone, Low-set ears, Ectrodactyly, Microcephaly, Growth delay, Posterior...	OMIM:615465
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Agenesis of corpus callosum, Abnormality of the anterior commissure	OMIM:617542
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Osteopetrosis, Optic atrophy, Retrognathia, Cerebral calcification,...	ORPHA:2785
Achard Syndrome	Brachycephaly, Broad skull, Arachnodactyly, Micrognathia, Joint hypermobility	OMIM:100700
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Proximal radio-ulnar synostosis, Joint stiffness, Downslanted palpebral fissures, ...	ORPHA:2062
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Single transverse palmar crease, Prominent fingertip pads, Synophrys, Long palpebral fissure, Hea...	ORPHA:466950
Pycnodysostosis	Prominent occiput, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of the d...	OMIM:265800
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Clinodactyly of the 5th toe, Recurrent otitis media, Short fifth metatarsal, 2-3 t...	OMIM:261990
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Short thorax, Pectus excavatum, Missing ribs, Block vertebrae, Rib fusion, Ve...	OMIM:613686
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Noonan Syndrome 9	Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Short stature, Ventric...	OMIM:616559
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Anencephaly, Aplasia/Hypoplasia of the thumb, Abs...	ORPHA:96176
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencep...	OMIM:616546
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Low-set, posteriorly rotated ears, Mandibular prognathia, Relative macrocephaly, Broa...	ORPHA:171866
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Short middle phalanx of finger, Fused cervical vertebrae, Brachydactyly	ORPHA:1436
Histiocytoid Cardiomyopathy	Optic atrophy, Failure to thrive, Cerebellar malformation, Agenesis of corpus callosum, Cardiomeg...	ORPHA:137675
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Hydranencephaly, Tracheomalacia, Cerebral calcification, Porencep...	ORPHA:1393
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Synophrys, Short stature, Obesity, Thick eyebrow, Brachydactyly, Acne, Protruding...	ORPHA:247768
Lethal Congenital Contracture Syndrome 2	Ventricular septal defect, Micrognathia, Skeletal muscle atrophy, Dilated cardiomyopathy, Arthrog...	OMIM:607598
Frontofacionasal Dysplasia	Brachycephaly, S-shaped palpebral fissures, Short nose, Telecanthus, Frontal cutaneous lipoma, Hy...	OMIM:229400
Heterotaxy, Visceral, 12, Autosomal	Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Pulmoni...	OMIM:619702
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Inguinal hernia, Low-set ears, Postaxial hand polydactyly, Downslan...	ORPHA:1655
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Abnormal finger morphology, Cr...	OMIM:163200
Faundes-Banka Syndrome	Delayed puberty, Plagiocephaly, Long ear, Flexion contracture of toe, Broad eyebrow, Microtia, Hy...	OMIM:619376
15q26 overgrowth syndrome	Macrocephaly, Sensorineural hearing impairment, Abnormal pinna morphology, Mandibular prognathia,...	DECIPHER:81
Velocardiofacial Syndrome	Retrognathia, Abnormality of the hand, Inguinal hernia, Microcephaly, Short stature, Tetralogy of...	OMIM:192430
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Distal shortening of limbs, Abnormal rib morphology, Broad femoral neck, Thickened co...	ORPHA:488434
Gapo Syndrome	Optic atrophy, Plagiocephaly, Short nose, Protruding ear, Wide anterior fontanel, Eruption failur...	OMIM:230740
Rin2 Syndrome	Downslanted palpebral fissures, Brachydactyly, Umbilical hernia, Joint hypermobility, Increased s...	ORPHA:217335
Keutel Syndrome	Recurrent otitis media, Premature fusion of phalangeal epiphyses, Epiphyseal stippling, Short hal...	OMIM:245150
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Short clavicles, Low-set ears, Steep acetabular roof, Hypoplastic ischia, Coronal cra...	ORPHA:313855
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Hearing impairment, Micrognathia, Unilater...	OMIM:619699
Mucopolysaccharidosis, Type X	Genu valgum, Spatulate ribs, Broad clavicles, Irregular acetabular roof, Hip dysplasia, Broad ribs	OMIM:619698
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Ear-Patella-Short Stature Syndrome	Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Abnormal epiphysis morpholog...	ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing, Tics, Synophrys	OMIM:619264
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Bronchiectasis, Ventricular septal ...	OMIM:616037
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Plagiocephaly, Abnormal fibula morphology, Abnormal femur morpho...	ORPHA:2063
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Retrognathia, Cardiomegaly, Abnormal earlobe morphology, Prominent ...	ORPHA:96191
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va...	ORPHA:1880
Rett Syndrome, Congenital Variant	Hypoplasia of the corpus callosum, Tongue thrusting, Progressive microcephaly, Athetosis, Dystoni...	OMIM:613454
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Dextrocard...	OMIM:619657
Double Outlet Right Ventricle	Abnormality of cartilage of external ear, Truncus arteriosus, Pulmonic stenosis, Failure to thriv...	ORPHA:3426
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Patent foramen ovale, Tubulointerstitial nephritis, Hypertrophic cardiomyopathy	OMIM:614582
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Palmoplantar keratoderma, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger synda...	ORPHA:1071
Pancreatic Agenesis-Holoprosencephaly Syndrome	Prominent occiput, Abnormal pinna morphology, Low-set ears, Aplasia/Hypoplasia of the phalanges o...	ORPHA:556955
Hypotonia, Ataxia, And Delayed Development Syndrome	Weakness of facial musculature, Cerebellar vermis hypoplasia, Small earlobe, Low-set ears, Tapere...	OMIM:617330
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Laryngotracheomalacia, Abnormal epiphysis morp...	ORPHA:503
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Loeys-Dietz Syndrome 1	Retrognathia, Arachnodactyly, Mitral valve prolapse, Bicuspid aortic valve, Joint hypermobility, ...	OMIM:609192
Relapsing Polychondritis	Myocarditis, Abnormal endocardium morphology, Abnormal aortic valve morphology, Recurrent aphthou...	ORPHA:728
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Hip dislocation, Long cla...	OMIM:265000
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Microcephaly, Broad thum...	OMIM:107480
Holoprosencephaly 9	Short nose, Agenesis of incisor, Thin corpus callosum, Abnormal cortical gyration, Wide anterior ...	OMIM:610829
Humeroradial Synostosis	Brachycephaly, Small earlobe, Microtia, Humeroradial synostosis, Wide nasal bridge	OMIM:236400
Sotos Syndrome	Chronic otitis media, Abnormal heart morphology, Umbilical hernia, Joint hypermobility, Craniosyn...	ORPHA:821
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hypoplasia of the corpus callosum, Secondary microcephaly, Hair-pulling, Hyperactivity, Hypsarrhy...	ORPHA:447997
Aspergillosis	Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology	ORPHA:1163
Congenital Myopathy 22B, Severe Fetal	Tapered toe, Slender long bone, Shoulder flexion contracture, Thin ribs, Elbow flexion contractur...	OMIM:620369
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia...	OMIM:610017
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Long ear, Inguinal hernia, Thick corpus callosum, Attention defi...	OMIM:618846
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g...	OMIM:600001
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:600901
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Dystonia, Choreoathetosis, Atrial septal defect, Ventricular septal defect, Cholesteatoma	OMIM:610978
Holoprosencephaly 1	Proboscis, Microcephaly, Short stature, Aplasia of the nose, Agenesis of corpus callosum, Cerebel...	OMIM:236100
Syndromic Diarrhea	Gastritis, Inguinal hernia, Small for gestational age, Intrauterine growth retardation, Short sta...	ORPHA:84064
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Disproportionate short-limb short stature, Short long bone, Joint hypermobility, Genu varum, Long...	ORPHA:2502
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Moderat...	OMIM:113300
Meacham Syndrome	Stillbirth, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary ...	OMIM:608978
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Abnormal periventricular white matter morphology, Microcephaly, Intention tremor,...	OMIM:619725
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Split hand, Abnormal rib morphology, Joint stiffness, Micrognathia, Toe syndac...	ORPHA:1300
Alagille Syndrome 2	Pulmonic stenosis, Long nose, Atrial septal defect, Tetralogy of Fallot	OMIM:610205
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Joint stiffness, Umbilical hernia, Joint hyperm...	ORPHA:534
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Recurrent otitis media, Clubbing of fingers, Arthritis, Thyroiditis, Colitis, Bronchie...	OMIM:614700
Cardiac Diverticulum	Aortic valve stenosis, Abnormal heart morphology, Mitral valve prolapse, Umbilical hernia, Left v...	ORPHA:1686
Limb Body Wall Complex	Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Anencephaly, Aplasia/hypoplasia ...	ORPHA:2369
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl...	OMIM:227650
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Macrocephaly, Inguinal hernia, Sensorineural hearing impairment, Long ...	OMIM:617107
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Microcephaly, Failure to thrive, Agitation, Motor stereotypy	ORPHA:927
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Microcephaly, Umbilical hernia, Hip dislocation, Aganglionic megacolon, Inguinal hernia, Absent e...	OMIM:308205
Meckel Syndrome, Type 7	Situs inversus totalis, Inguinal hernia, Dandy-Walker malformation, Aortic valve stenosis, Right ...	OMIM:267010
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Subaortic ventricular septal bulge, Hypertrophic cardiomyopathy, Left ventr...	OMIM:612098
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Skin rash, Abnor...	ORPHA:464
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Absent radius, Abnormal ster...	OMIM:192350
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Abnormal sternum morphology, Limitation of joint mobility, Pectus excavatum, C...	ORPHA:2990
Whipple Disease	Myocarditis, Anorexia, Polydipsia, Myositis, Arthritis, Cachexia, Pericarditis, Infectious enceph...	ORPHA:3452
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Radial deviation of finger, Hyperactivity, Sensorineural hearing impairment, Microtia, Microcepha...	OMIM:309580
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Tricuspid valve prolapse, Inguinal hernia, Hypoplasia of the musculature, Abnormal...	ORPHA:1101
Bardet-Biedl Syndrome	Retrognathia, Childhood-onset truncal obesity, Cardiomyopathy, Abnormal heart morphology, Syndact...	ORPHA:110
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Sensorineural hearing impairment, Single transverse palmar crease, Synophrys, Long palpebral fiss...	ORPHA:466943
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Obesity, Brachydactyly	OMIM:600151
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Campomelic Dysplasia	Fibular hypoplasia, Macrocephaly, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobron...	ORPHA:140
Aica-Ribosiduria	Brachycephaly, Low-set ears	ORPHA:250977
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Disinhibition, Dysphagia, Motor stereotypy, Skeletal muscle atrophy	OMIM:612069
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Mucopolysaccharidosis, Type Vi	Genu valgum, Pectus carinatum, Hypoplastic iliac wing, Hypoplastic acetabulae, Prominent sternum,...	OMIM:253200
Localized Scleroderma	Sclerosis of finger phalanx, Arthritis, Abnormal bone structure, Esophagitis, Hashimoto thyroidit...	ORPHA:90289
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Telecanthus, Prominent occiput, Cerebral calcification, Dandy-Walker malformation,...	ORPHA:2612
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra...	OMIM:617247
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of masticatory muscle, Limb hyperton...	ORPHA:98889
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Cystinosis	Rickets, Polydipsia, Delayed puberty, Short stature, Failure to thrive, Motor stereotypy, Myopathy	ORPHA:213
Axial Mesodermal Dysplasia Spectrum	Missing ribs, Micrognathia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1834
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Telecanthus, Abnormal cranial nerve morphology, Finger syndactyly,...	ORPHA:989
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Barber-Say Syndrome	Ectropion, Clinodactyly of the 5th finger, Telecanthus, Delayed eruption of teeth, Mandibular pro...	OMIM:209885
Bloom Syndrome	Retrognathia, Cheilitis, Small for gestational age, Decreased head circumference, Severe postnata...	ORPHA:125
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Thickened ribs, Dense calvaria	OMIM:252920
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Patent foramen ovale, Notched primary central incisor, Right atrial enl...	OMIM:620519
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Low-set ears, Ebstein anomaly of the tricuspid valve, Posteriorly rotated ears, Th...	OMIM:608980
Intellectual Developmental Disorder, Autosomal Recessive 78	Retrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Sensorineural hearing impairment, O...	OMIM:620237
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Atrioventricular canal defect, Short clavicles, Short long bone, Low-set ear...	OMIM:617088
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Recurrent otitis media, Short stature, Chronic hepatitis, Rhabdomyolysis, Microg...	OMIM:614921
Hirschsprung Disease With Type D Brachydactyly	Aganglionic megacolon, Short thumb, Type D brachydactyly	OMIM:306980
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Tricuspid atresia, Partial anomalous pulmonary venous return, ...	ORPHA:185
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Pericardial effusion, Papilledema, Intrauterine growth retardation, ...	OMIM:618775
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Arthritis, Skin rash, Abnormal sacroiliac joint morphology, Pericarditis, Erysipelas, A...	ORPHA:32960
Faciocardiorenal Syndrome	Plagiocephaly, Tricuspid valve prolapse, Failure to thrive, Protruding ear, Wide nasal bridge, En...	ORPHA:1973
Methimazole Embryofetopathy	Intrauterine growth retardation, Calvarial skull defect, Ventricular septal defect	ORPHA:1923
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Macrocephaly, Disp...	ORPHA:93271
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo...	ORPHA:210122
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Mixed hearing impairment, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Delayed...	OMIM:300990
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Abnormal tricuspid valve leaflet morphology, Bacterial ...	ORPHA:99095
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Heterotaxy, Visceral, 5, Autosomal	Cerebral atrophy, Atrioventricular canal defect, Cerebellar hypoplasia, Double inlet left ventric...	OMIM:270100
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-4 toe cutaneous syndactyly, Palpebral edema, Hyperactivity, Short ear, Aggressive behavior, 2-3...	OMIM:614756
Mucopolysaccharidosis, Type Iiia	Joint stiffness, Thickened ribs, Dense calvaria	OMIM:252900
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Disproportionate short stature, Generalized bone demineralization, Delayed ep...	ORPHA:93352
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Hearing impairment, Conjunctivitis, Uveitis	OMIM:120100
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri...	ORPHA:2255
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia, Enterocolitis, Interface hepatitis, Intrauterine growth retardati...	OMIM:243150
Craniofacial Microsomia 1	Upper eyelid coloboma, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Hypopla...	OMIM:164210
Nocardiosis	Anorexia, Scleritis, Abnormal heart valve morphology, Thyroiditis, Lymphadenitis, Pericarditis, K...	ORPHA:31204
Chitayat Syndrome	Short stature, Hallux valgus, Brachydactyly, Tracheomalacia	OMIM:617180
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Microtia, Low-set ears, Hearing i...	OMIM:613309
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Low-set ears, Corneal scarring, Growth delay, Hand clenching, Flexion contracture, Limited hip ex...	OMIM:614653
Hurler Syndrome	Abnormal clavicle morphology, Abnormal diaphysis morphology, Abnormality of the elbow, Limitation...	ORPHA:93473
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Reduced bone mineral density, Macrocephaly, Clinodactyly of the 5th finger, Microcephaly, Motor s...	OMIM:616682
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Femoral bowing, Microcephaly, Arachnodactyly, Craniosynostosis, Tarsal synost...	OMIM:201750
Vacterl/Vater Association	Finger syndactyly, Abnormal rib morphology, Aplasia/Hypoplasia of the radius, Intrauterine growth...	ORPHA:887
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Ventricular hypertrophy, Athetosis, Tinnitus, Ventricular septal defect	ORPHA:369929
Esophageal Atresia	Laryngotracheomalacia, Esophagitis, Omphalocele, Hearing impairment, Growth delay, Tetralogy of F...	ORPHA:1199
Geleophysic Dysplasia 3	Limited elbow movement, Short foot, Epiphyseal dysplasia, Short stature, Limb undergrowth, Brachy...	OMIM:617809
Proboscis Lateralis	Macrocephaly, Proboscis, Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of th...	ORPHA:141099
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Abnormality of the hand, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Hijazi-Reis Syndrome	Postnatal growth retardation, Motor stereotypy	OMIM:301094
Bardet-Biedl Syndrome 20	Pancreatitis, 2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Papilledema,...	OMIM:619471
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Growth delay	ORPHA:139466
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten...	ORPHA:529808
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdominal wall musc...	OMIM:267000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Small earlobe, Hypoplastic iliac wing, ...	ORPHA:93315
Woolly Hair Nevus	Enlarged vestibular aqueduct, Brachydactyly	ORPHA:79414
Microscopic Polyangiitis	Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritonitis, Increased...	ORPHA:727
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Narrow chest, Bowing...	ORPHA:667
Grange Syndrome	Decreased body weight, Coronary artery stenosis, Syndactyly, Brachydactyly, Bicuspid aortic valve...	OMIM:602531
Blau Syndrome	Iritis, Flexion contracture of toe, Abnormal cranial nerve morphology, Arthritis, Tendonitis, Syn...	OMIM:186580
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy, Telecanthus	ORPHA:1547
Liver Disease, Severe Congenital	Left atrial enlargement, Macrocephaly at birth, Umbilical hernia, Cardiomegaly, Intrauterine grow...	OMIM:619991
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Thin ribs, Large for gestational age	ORPHA:169189
Hereditary Cryohydrocytosis With Reduced Stomatin	Postnatal growth retardation, Macrocephaly, Intracerebral periventricular calcifications, Cerebra...	ORPHA:168577
Lymphatic Malformation 6	Abnormal pinna morphology, Hearing impairment, Short stature, Micrognathia, Epicanthus, Celluliti...	OMIM:616843
Pitt-Hopkins-Like Syndrome 1	Macrocephaly, Hyperactivity, Cortical dysplasia, Motor stereotypy, Attention deficit hyperactivit...	OMIM:610042
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:278800
Lowe Oculocerebrorenal Syndrome	Rickets, Postnatal growth retardation, Wrist swelling, Genu valgum, Aggressive behavior, Patholog...	OMIM:309000
Cowden Syndrome	Macrocephaly, Conjunctival hamartoma, Lipoma, Bone cyst, Hearing impairment, Failure to thrive, S...	ORPHA:201
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar...	OMIM:618280
Diaphragmatic Hernia 4, With Cardiovascular Defects	Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 toe ...	OMIM:620025
Congenital Tracheomalacia	Pneumonia, Tracheomalacia, Tracheobronchomalacia, Bronchiectasis, Failure to thrive, Abnormal hea...	ORPHA:95430
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Shigellosis	Myocarditis, Anorexia, Acute colitis, Arthritis, Rhabdomyolysis, Peritonitis, Conjunctivitis, Pne...	ORPHA:810
Alagille Syndrome 1	Hypoplasia of the ulna, Long nose, Low-set ears, Frontal bossing, Macrotia, Failure to thrive, Te...	OMIM:118450
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Thickened ribs, Dense calvaria	OMIM:252930
Isolated Exencephaly	Abnormal calvaria morphology, Hypoplasia of the frontal bone, Low-set ears, Agenesis of corpus ca...	ORPHA:563612
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Ptosis, Micrognathia, Tetralogy of Fallot, Conjunctivitis, Cellulitis, V...	OMIM:153400
Developmental And Epileptic Encephalopathy 2	Hypsarrhythmia, Progressive microcephaly, Short foot, Motor stereotypy, EEG with generalized slow...	OMIM:300672
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li...	ORPHA:321
Hardikar Syndrome	Mild hearing impairment, Cholangitis, Patent foramen ovale, Osteoporosis, Umbilical hernia, Failu...	OMIM:301068
Monosomy 9Q22.3	Polydactyly, Large for gestational age, Palmar pits, Pectus excavatum, Abnormal rib morphology, J...	ORPHA:77301
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly, Short stature	OMIM:613819
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Abnormality of the temporomandibular joint, Abnormal shoulder morphology, Abnormality of ...	ORPHA:85436
Oligoarticular Juvenile Idiopathic Arthritis	Severe postnatal growth retardation, Knee osteoarthritis, Arthritis, Uveitis, Rheumatoid arthriti...	ORPHA:85410
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Hypoplasia of the primary teeth, Clinodactyly of th...	OMIM:243800
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal metacarpal morphology, Abnormal dental enamel morphology, Abnor...	ORPHA:3194
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Tremor, Optic neurop...	OMIM:610505
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Atrial septal defect	OMIM:602482
Loeys-Dietz Syndrome 3	Retrognathia, Ventricular hypertrophy, Pulmonic stenosis, Arachnodactyly, Mitral valve prolapse, ...	OMIM:613795
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Punctate keratitis, Growth delay, Failure to thrive, Palmoplantar hyperkeratosis, Hy...	OMIM:617388
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous...	ORPHA:3097
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Inguinal hernia, Telecanthus, Wide anterior fontanel, Diastasis recti, Ptosis, Upl...	OMIM:618548
Pseudohypoparathyroidism, Type Ib	Obesity, Short metacarpal, Brachydactyly	OMIM:603233
Intellectual Developmental Disorder, Autosomal Dominant 38	Cerebral atrophy, Hair-pulling, Low-set ears, Microcephaly, Downslanted palpebral fissures, Motor...	OMIM:616393
Gm1-Gangliosidosis, Type I	Intrauterine growth retardation, Joint stiffness, Thickened ribs, Hypoplastic vertebral bodies	OMIM:230500
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Athetosis, Ventricular septal defect, Left ventricular hypertrophy, Biventr...	OMIM:615474
Sarcoidosis, Susceptibility To, 1	Anorexia, Enlarged lacrimal glands, Bone cyst, Arthritis, Clubbing, Optic neuropathy, Pericardial...	OMIM:181000
Congenital Disorder Of Glycosylation, Type Iiaa	Short long bone, Bilateral talipes equinovarus, Ventricular septal defect, Knee flexion contracture	OMIM:620454
Orthostatic Hypotension 1	Orthostatic hypotension, Ptosis, Brachydactyly, Weakness of facial musculature, Joint hypermobility	OMIM:223360
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Reduced bone mineral density, Genu valgum, Craniofacial hyperostosi...	ORPHA:581
You-Hoover-Fong Syndrome	Microcephaly, Hearing impairment, Brachydactyly, Clinodactyly, Paroxysmal bursts of laughter	OMIM:616954
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Tibial bowing, Osteoporosis, Microcephaly, Short stature, Metaph...	OMIM:259770
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Short ribs, Missing ribs, Block vertebrae, Rib fusion, Vertebral fusion	OMIM:271520
Sarcoidosis, Susceptibility To, 2	Clubbing, Facial palsy, Bronchiectasis, Erythema nodosum, Uveitis	OMIM:612387
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor...	ORPHA:2907
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Holoprosencephaly 2	Proboscis, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Aplasia of the prema...	OMIM:157170
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Autism, Susceptibility To, 3	Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy	OMIM:608049
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Reduced bone mineral density, Osteoporosis, Failure to thrive, Agenesis of corpu...	ORPHA:168558
Mucopolysaccharidosis, Type Iiid	Elbow flexion contracture, Joint stiffness, Epiphyseal dysplasia, Achilles tendon contracture, Hy...	OMIM:252940
Phace Association	Optic atrophy, Optic nerve hypoplasia, Dandy-Walker malformation, Cerebellar hypoplasia, Ventricu...	OMIM:606519
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Reduced bone mineral density, Osteoporosis, Failure to thrive, Agenesis of corpu...	ORPHA:289548
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect, Low-set ears	OMIM:612528
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology, Multiple rib fractures	OMIM:612301
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Delayed puberty, Thyroiditis, Patent foramen ovale, Chronic mucocutaneous candidiasis...	ORPHA:391487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Muscular dystrophy, Anencephaly, Cortical dysplasia, Type II lissencephaly...	OMIM:615287
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Necrotizing enterocolitis, Growth delay, Atr...	OMIM:619573
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Distichiasis	OMIM:126320
Orotic Aciduria	Failure to thrive, Atrial septal defect, Ventricular septal defect	OMIM:258900
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Torticollis, Polymicrogyria, Optic nerve hypoplasia, Levator palpebrae superioris ...	ORPHA:45358
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Hypsarrhythmia, Patent foramen ovale	ORPHA:542306
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Stiff elbow, Hypoplastic pubic bone, Wide anterior fontanel, Tibial...	ORPHA:798
Common Variable Immunodeficiency	Brachycephaly, Chronic otitis media, Bronchiectasis, Otitis media, Pneumonia, Failure to thrive i...	ORPHA:1572
Aspartylglucosaminuria	Brachycephaly, Cerebral atrophy, Pathologic fracture, Microcephaly, Short stature, Acne, Joint hy...	OMIM:208400
Digeorge Syndrome	Short palpebral fissure, Recurrent otitis media, Acne, Inguinal hernia, Seborrheic dermatitis, Tr...	OMIM:188400
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Interictal epileptiform activity, EEG with focal spikes, Increased theta fre...	ORPHA:98784
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Bronchiectasis, Grow...	ORPHA:980
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Sensorineural hearing impairment, Ptosis, Short palm, Brachydactyly	ORPHA:3217
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Polydactyly, Delayed puberty, Pituitary dwarfism, Optic nerve hypoplasia, Septo-optic...	ORPHA:95494
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni...	ORPHA:3384
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Flexio...	ORPHA:2908
Pontine Tegmental Cap Dysplasia	Failure to thrive, Rib fusion	OMIM:614688
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Dilated fourth ventricle, T...	OMIM:610688
Tetraamelia Syndrome 2	Micrognathia, Ventricular septal defect, Low-set ears, Microretrognathia	OMIM:618021
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral hypoplasia of pectoralis major muscle, Plagiocephaly, Unilateral brachydactyly, Diasta...	ORPHA:1521
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Ventricular septal defect, Low-set ears, Intrauterine growth ret...	OMIM:611812
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Macrocephaly, Sensorineural hearing impairment, Polyphagia, Compulsi...	ORPHA:293987
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Omphalocele, Hashimoto thyroiditis, Intrauterine growth retardation, Psoriasiform...	ORPHA:436252
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Thin ribs, Osteoporosis, Congenital hip dislocation, Arachnodactyly, Protrusio acetab...	OMIM:225400
Incontinentia Pigmenti	Optic atrophy, Scarring, Delayed eruption of teeth, Microcephaly, Short stature, Keratitis, Eosin...	OMIM:308300
Dextrocardia	Abnormal rib morphology, Congenital hip dislocation	ORPHA:1666
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Dandy-Walker malformation, Aortic valve stenosis, Neonatal death, Atrial ...	OMIM:208540
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Recurrent otitis media, Inguinal hernia, Low-set ears, Osteoporosis, Failure...	OMIM:619525
Smooth Muscle Dysfunction Syndrome	Dysgyria, Atrial septal defect, Periventricular white matter hyperintensities	OMIM:613834
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventricular septal defect	OMIM:219730
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Bone cyst, Narrow iliac wing, Calcification of the auricular cartilage, Synophrys,...	ORPHA:3042
Hydroxykynureninuria	Stomatitis, Congenital sensorineural hearing impairment, Motor stereotypy	ORPHA:79155
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Clubbing, Low-set ears, Split hand, Growth delay, Macrotia, Tetralogy of Fal...	OMIM:600460
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect	OMIM:617300
Lymphoproliferative Syndrome 2	EBV encephalitis, Recurrent pneumonia, Uveitis	OMIM:615122
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Lymphatic Malformation 13	Atrial septal defect, Patent foramen ovale, Neonatal death	OMIM:620244
Generalized Pustular Psoriasis	Cheilitis, Arthritis, Palmoplantar pustulosis, Pustule, Obesity, Erythroderma, Overweight, Uveitis	ORPHA:247353
Autosomal Dominant Coarctation Of Aorta	Ventricular septal defect, Hypoplastic left heart	ORPHA:1455
Hepatoerythropoietic Porphyria	Osteopenia, Scarring, Ectropion, Erythrodontia, Loss of eyelashes, Scarring alopecia of scalp, Ke...	ORPHA:95159
Mayer-Rokitansky-Küster-Hauser Syndrome	Pulmonic stenosis, Hearing impairment, Atrial septal defect, Vertebral fusion	ORPHA:3109
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Transposition of the great arteries, Aortopulmonary window, Failure to thrive, Tetralogy of Fallo...	ORPHA:99050
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Bronchiectasis, Aortic valve stenos...	OMIM:615067
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Mismatch Repair Cancer Syndrome 1	Rhabdomyosarcoma, Agenesis of corpus callosum	OMIM:276300
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Mucopolysaccharidosis Type 2, Severe Form	Diaphyseal undertubulation, Arthritis, Otosclerosis, Limitation of joint mobility, Camptodactyly ...	ORPHA:217085
Coccidioidomycosis	Osteolysis, Abnormal metacarpal morphology, Abnormal long bone morphology, Arthritis, Broad metat...	ORPHA:228123
Aortic Valve Disease 2	Pulmonic stenosis, Bicuspid aortic valve, Patent foramen ovale, Aortic valve stenosis	OMIM:614823
Mucopolysaccharidosis Type 2, Attenuated Form	Diaphyseal undertubulation, Arthritis, Otosclerosis, Limitation of joint mobility, Camptodactyly ...	ORPHA:217093
Weill-Marchesani Syndrome 4	Joint stiffness, Brachydactyly, Short stature	OMIM:613195
Congenital Erythropoietic Porphyria	Osteopenia, Scarring, Ectropion, Erythrodontia, Loss of eyelashes, Scarring alopecia of scalp, Ke...	ORPHA:79277
Granulomatosis With Polyangiitis	Chronic otitis media, Episcleritis, Sinusitis, Keratitis, Weight loss, Conjunctivitis, Uveitis	OMIM:608710
Eisenmenger Syndrome	Atrioventricular canal defect, Bacterial endocarditis, Aortopulmonary window, Clubbing, Abnormal ...	ORPHA:97214
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Marburg Hemorrhagic Fever	Anorexia, Pancreatitis, Arthritis, Skin rash, Uveitis, Conjunctival hyperemia, Pericarditis, Orch...	ORPHA:99826
Aortic Arch Interruption	Transposition of the great arteries, Aortic valve atresia, Aortopulmonary window, Truncus arterio...	ORPHA:2299
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Dystonia, Dysphagia, Motor stereotypy	OMIM:607625
Primary Sclerosing Cholangitis	Osteopenia, Pancreatitis, Thyroiditis, Osteoporosis, Generalized amyotrophy, Ulcerative colitis, ...	ORPHA:171
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Uterine prolapse, Ventricular septal defect, Inguinal hernia	OMIM:123700
Norrie Disease	Optic atrophy, Delayed puberty, Protruding ear, Sensorineural hearing impairment, Abnormal helix ...	ORPHA:649
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Subarterial ventricular septal defect, Patent foramen o...	ORPHA:99094
Diphallia	Inguinal hernia, Abnormal heart morphology, Absent thumb, Atrial septal defect, Abnormal pubic bo...	ORPHA:227
Sarcoidosis	Enlarged lacrimal glands, Scarring, Maculopapular exanthema, Bone cyst, Parotitis, Facial palsy, ...	ORPHA:797
Cogan Syndrome	Inflammatory abnormality of the eye, Sensorineural hearing impairment, Episcleritis, Tinnitus, Ke...	ORPHA:1467
Leprosy	Abnormal seventh cranial physiology, Iritis, Loss of eyelashes, Abnormal autonomic nervous system...	ORPHA:548
Leptospirosis	Anorexia, Optic neuritis, Skin rash, Pericarditis, Conjunctival hyperemia, Rhabdomyolysis, Papill...	ORPHA:509
Autoimmune Lymphoproliferative Syndrome	Panniculitis, Recurrent aphthous stomatitis, Gastritis, Arthritis, Thyroiditis, Colitis, Eosinoph...	ORPHA:3261
Penile Agenesis	Short nose, Bilateral talipes equinovarus, Posteriorly rotated ears, Atrial septal defect, Ventri...	ORPHA:49
Renal Agenesis	Ventricular septal defect, Talipes equinovarus	ORPHA:411709
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Skin rash, Chorioretinal scar, Posterior uveitis, Papilledema, Nongranulomatous uveitis...	ORPHA:91500
Nmda Receptor Encephalitis	Orthostatic tachycardia, Agitation, EEG with temporal sharp slow waves, Orthostatic hypotension, ...	ORPHA:217253
Hypothyroidism, Congenital, Nongoitrous, 5	Growth delay, Patent foramen ovale	OMIM:225250
Rift Valley Fever	Anorexia, Skin rash, Hepatitis, Infectious encephalitis, Uveitis	ORPHA:319251
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
Fraser Syndrome	Finger syndactyly, Abnormal rib morphology, Limb undergrowth, Wide pubic symphysis, Toe syndactyl...	ORPHA:2052
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal earlobe morphology, Hypoplastic left heart	ORPHA:141127
Pauci-Immune Glomerulonephritis	Pancreatitis, Arteritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, ...	ORPHA:93126
Juvenile Xanthogranuloma	Blepharitis, Iritis, Uveitis	ORPHA:158000
Amoebic Keratitis	Scleritis, Anterior uveitis	ORPHA:67043
Antiphospholipid Syndrome, Familial	Scleritis, Iritis, Keratitis	OMIM:107320
Retinoblastoma	Cellulitis, Rhabdomyosarcoma, Leiomyosarcoma, Uveitis	ORPHA:790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Uveitis	OMIM:221900
Homozygous Familial Hypercholesterolemia	Myocardial steatosis, Tendon xanthomatosis, Optic neuropathy, Abnormal tendon morphology	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nipbl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nipbl.

No publications found that use IMPC mice or data for Nipbl.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nipbl^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nipbl^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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