Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
K(lysine) acetyltransferase 6B
Synonyms:
Morf,  querkopf,  qkf,  Myst4,  monocytic leukemia,  B130044K16Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kat6b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kat6b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kat6b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Talipes... OMIM:616570
Congenital Disorder Of Glycosylation, Type Iiy
Agenesis of corpus callosum, Brachycephaly, Atrophy/Degeneration affecting the brainstem, Hip sub... OMIM:620200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Large fontanelles, Abnorma... ORPHA:93267
Pierpont Syndrome
Abnormal cortical gyration, Hearing impairment, Prominent fingertip pads, Short toe, Short finger... ORPHA:487825
Aminopterin Syndrome Sine Aminopterin
Low-set ears, Joint contracture of the hand, Clinodactyly, Short thumb, Frontal bossing, Umbilica... OMIM:600325
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Agenesis of corpus callosum, Hydrocephalus, Frontal encephaloc... ORPHA:1528
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter hetero... OMIM:300067
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Cone-shaped epiphysis, Shagreen patch, Delayed cranial suture closure, Abno... ORPHA:2511
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Optic nerve hypoplasia, Lateral ventricle dilatation, Hypoplasia of ... OMIM:618736
Gómez-López-Hernández Syndrome
Low-set ears, Abnormal brainstem morphology, Turricephaly, Brachycephaly, Hydrocephalus, Short st... ORPHA:1532
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Toe syndactyly, Umbilical hernia, Obesity, Micrognathia, Large fontanelles, Malar f... ORPHA:171839
Lissencephaly 3
Polymicrogyria, Hypoplasia of the brainstem, Periventricular laminar heterotopia, Agenesis of cor... OMIM:611603
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Hearing impairment, Broad thumb, Cl... OMIM:602849
Maternal Hyperthermia-Induced Birth Defects
Joint stiffness, Intrauterine growth retardation, Abnormality of neuronal migration, Short statur... ORPHA:2216
Craniosynostosis 6
Plagiocephaly, Lateral ventricle dilatation, Parietal foramina, Right unilambdoid synostosis, Del... OMIM:616602
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Intrauterine growth retardation, Micrognathia, Periventricular heterotopi... OMIM:616171
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Micrognathia, Delayed patellar ossification, Anterior ... ORPHA:163649
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Hearing impairment, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy,... ORPHA:178377
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... OMIM:175700
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Micr... ORPHA:2097
Pierpont Syndrome
Hearing impairment, Failure to thrive, Large fleshy ears, Prominent fingertip pads, Short toe, Sh... OMIM:602342
Chudley-Mccullough Syndrome
Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heterotopia, Partial agene... OMIM:604213
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Micrognathia, Joint hypermobility, Brachycephaly, Short statur... ORPHA:1695
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band hetero... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Intrauterine growth retardation, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band he... OMIM:615411
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Hearing impairment, Retrognathia, Trigonocephaly, Overlapping toe, Micrognathia, Ov... OMIM:613792
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Plagiocephaly, Camptodactyly of finger, Type II lissencephaly, Intrauterine g... ORPHA:272
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Warburg Micro Syndrome 1
Low-set ears, Failure to thrive, Overlapping toe, Micrognathia, Agenesis of corpus callosum, Join... OMIM:600118
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Lissencephaly, Retrognathia, Preaxial polydactyly, Overlapping toe, Micrognathia, O... OMIM:618142
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Polymicrogyria, Micrognathia, Gray matter heterotopia, Abnormality of neuronal... OMIM:604317
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Clinodactyly, Micrognathia, Unilambdoid synostosis, Agenesis of corpus callosum, B... OMIM:618577
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia OMIM:233270
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Retrognathia, Large fleshy ears, Micrognathia, Congenital diaphragmatic hernia, Dec... OMIM:263210
Hao-Fountain Syndrome
Low-set ears, Delayed cranial suture closure, Trigonocephaly, Large fontanelles, Hallux valgus, C... OMIM:616863
Cerebrooculofacioskeletal Syndrome 4
Low-set ears, Micrognathia, Decreased body weight, Dislocated radial head, Hip dislocation, Bilat... OMIM:610758
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Plagiocephaly, Broad thumb, Hearing impairment, Failure to thrive, Promine... OMIM:619721
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Delayed cranial suture closure, Micrognathia, Large fontanelles, Flat occiput, Coar... ORPHA:2780
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Camptodactyly of ... ORPHA:1327
Larsen-Like Syndrome
Low-set ears, Conductive hearing impairment, Dental malocclusion, Joint dislocation, Recurrent ot... OMIM:608545
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Abnormal antihelix ... ORPHA:2145
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Failure to thrive, Ca... ORPHA:1617
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Postnatal growth retardation, Micrognathia, Broad phalanx, Bilateral coxa val... ORPHA:439822
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Brachycephaly, Microphthalmia, Short stature, Growth delay ORPHA:2528
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Micrognathia, Large fontanelles, Genu va... ORPHA:1452
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Abnormal calvaria morphology, Microretrognathia, Intrauterine growth retardation, P... ORPHA:89844
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Hypoplasia of the maxilla,... OMIM:136760
Adenylosuccinate Lyase Deficiency
Low-set ears, Brachycephaly, Prominent metopic ridge, Flat occiput ORPHA:46
ERI1-related disease
Low-set ears, Micrognathia, Decreased body weight, Patellar dislocation, Finger joint hypermobili... OMIM:608739
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Rieger anomaly, Malar flattening,... OMIM:109120
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Brachydactyly, Hearing impairment, Metacarpal synostosis ORPHA:35099
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Umbilical hernia, Intrauterine growth retardation, Micrognathia, Inguinal hernia, B... OMIM:615834
Acrodysostosis
Hearing impairment, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology... ORPHA:950
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact... ORPHA:2633
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Low-set ears, Broad thumb, Hearing impairment, Retrognathia, Failure to thrive, Overlapping toe, ... OMIM:617452
Chromosome 3Q13.31 Deletion Syndrome
Low-set ears, Plagiocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Brachycephaly... OMIM:615433
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Low-set ears, Small hand, Mild hearing impairment, Trigonocephaly, Scaphocephaly, Micrognathia, I... ORPHA:459061
Craniofrontonasal Dysplasia
Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Clinodactyly of the 5th fi... ORPHA:1520
Cornelia De Lange Syndrome 2
Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Microgna... OMIM:300590
6Q25 Microdeletion Syndrome
Plagiocephaly, Failure to thrive, Camptodactyly of finger, Low-set, posteriorly rotated ears, Mic... ORPHA:251056
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathi... OMIM:257850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Osteopenia, Flared metaphysis, Large fleshy ears, Decreased fibular diameter, Intra... OMIM:616897
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del... OMIM:613849
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Enlarged metaphyses, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, Ra... OMIM:245600
Edinburgh Malformation Syndrome
Low-set ears, Slender finger, Ulnar deviation of finger, Failure to thrive, Joint stiffness, Micr... ORPHA:1895
Chromosome 16Q22 Deletion Syndrome
Low-set ears, Growth delay, Failure to thrive, Broad hallux, Frontal bossing, Postnatal growth re... OMIM:614541
Pseudodiastrophic Dysplasia
Severe short stature, Rhizomelia, Elbow dislocation, Failure to thrive, Micrognathia, Malar flatt... OMIM:264180
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Malar ... OMIM:207410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, A... OMIM:613153
Hoxha-Aliu Syndrome
Low-set ears, Overlapping toe, Absent fifth metatarsal, Uplifted earlobe, Patellar dislocation, S... OMIM:620662
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Low-set ears, Osteopenia, Plagiocephaly, Failure to thrive in infancy, Intrauterine growth retard... OMIM:616801
Distal Deletion 10Q
Low-set ears, Lateral ventricle dilatation, Clinodactyly, Postnatal growth retardation, Micrognat... ORPHA:96148
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Hearing impairment, Retrognathia, Postnatal growth retardation, Micro... OMIM:300882
Microphthalmia With Limb Anomalies
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthal... OMIM:206920
Cutis Laxa, Autosomal Recessive, Type Iiia
Low-set ears, Congenital hip dislocation, Distal amyotrophy, Failure to thrive, Umbilical hernia,... OMIM:219150
Cofs Syndrome
Camptodactyly of finger, Joint stiffness, Micrognathia, Intrauterine growth retardation, Sensorin... ORPHA:1466
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Retrognathia, Aplasia/Hypoplasia o... ORPHA:505237
Pontocerebellar Hypoplasia, Type 3
Low-set ears, Hypoplasia of the pons, Hearing impairment, Hypoplasia of the brainstem, Decreased ... OMIM:608027
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Failure to thrive OMIM:608097
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Micrognathia, Encephalocele, Agenesis of corpus callosum, Ta... OMIM:619148
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Agenes... OMIM:218000
Baraitser-Winter Syndrome 2
Hearing impairment, Retrognathia, Trigonocephaly, Agenesis of corpus callosum, Microphthalmia, Pa... OMIM:614583
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... ORPHA:1488
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Hypoplasia of the brainstem, Microphthalmia, Partial agenesis of the corpus... OMIM:615771
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Frontal encephalocele, Microphthalmia, Craniosynostosis, Lissencepha... OMIM:218670
Bartsocas-Papas Syndrome 2
Low-set ears, Axillary pterygium, Small hand, Popliteal pterygium, Prominent occiput, Micrognathi... OMIM:619339
Cebalid Syndrome
Low-set ears, Plagiocephaly, Platystencephaly, Hearing impairment, Polymicrogyria, Congenital dia... OMIM:618774
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Low-set ears, Subcortical heterotopia, Muscular dystrophy, Optic nerve hypoplasia, Retrognathia, ... OMIM:614643
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Atrophic scars, Facial hypotonia, Inguinal hernia, Joint hyp... OMIM:615539
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shorten... OMIM:300863
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Skull asymmetry, Malar flattening, Turricephaly, Wormian bones, Brachycephaly, Shor... OMIM:601853
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormal calvaria morphology, Large for gestational age, Abnormality of the fontanelles or crania... ORPHA:2432
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Small hand, Plagiocephaly, Conductive hearing impairment, Prominent occiput, Clinod... OMIM:618672
Pfeiffer Syndrome Type 1
Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Finger syndactyly, Bicoronal synos... ORPHA:93258
Band Heterotopia
Plagiocephaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydroce... OMIM:600348
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased body weight, Brachycephaly, Short stature, Mandibular progna... ORPHA:93950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Skeletal muscle atrophy, Postnatal growth retardation, Intrauterine growth retardat... OMIM:615419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Hypoplasia of the brainstem, Elbow flexion con... OMIM:608840
Contractural Arachnodactyly, Congenital
Crumpled ear, Micrognathia, Hip contracture, Arachnodactyly, Bowing of the long bones, Talipes eq... OMIM:121050
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Failure to thrive, Elbow... OMIM:214150
Recombinant Chromosome 8 Syndrome
Low-set ears, Joint contracture of the hand, Growth delay, Hearing impairment, Postnatal growth r... OMIM:179613
2Q32Q33 Microdeletion Syndrome
Low-set ears, Toe clinodactyly, Broad thumb, Micrognathia, Joint hypermobility, Arachnodactyly, T... ORPHA:251019
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Malar flattening, Agenesis of corpus callosum, Brachycephaly, Short stature, ... OMIM:218350
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Low-set ears, Coronal craniosynostosis, Intrauterine growth retardation, Calvarial skull defect, ... ORPHA:228390
Laurence-Moon Syndrome
Finger syndactyly, Low-set, posteriorly rotated ears, Obesity, Sensorineural hearing impairment, ... ORPHA:2377
Chromosome 5P13 Duplication Syndrome
Low-set ears, Turricephaly, Agenesis of corpus callosum, Brachycephaly, Posteriorly rotated ears,... OMIM:613174
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Skeletal muscle atrophy, Failure to thrive, Inguinal hernia, Agenesis of corpus ca... OMIM:618603
Potocki-Shaffer Syndrome
Parietal foramina, Turricephaly, Wormian bones, Brachycephaly, 2-5 finger cutaneous syndactyly, B... OMIM:601224
Martsolf Syndrome 1
Low-set ears, Micrognathia, Talipes equinovarus, Broad fingertip, Microphthalmia, Finger joint hy... OMIM:212720
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Cone-shaped epiphysis, Carpal synostosis, Malar flatteni... ORPHA:53271
Marden-Walker Syndrome
Low-set ears, Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Hypop... OMIM:248700
Frank-Ter Haar Syndrome
Low-set ears, Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipes equ... OMIM:249420
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Dysplasia of the femoral head, Agenesis of corpus cal... OMIM:616854
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b... OMIM:101200
Baraitser-Winter Syndrome 1
Low-set ears, Retrognathia, Failure to thrive, Trigonocephaly, Postnatal growth retardation, Sens... OMIM:243310
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Low-set, posteriorly rotated ears, Intrauterine growth retardat... ORPHA:2117
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Chromosome 2P16.1-P15 Deletion Syndrome
Low-set ears, Joint contracture of the hand, Hypoplasia of the pons, Hearing impairment, Retrogna... OMIM:612513
Craniometadiaphyseal Dysplasia
Low-set ears, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis... OMIM:269300
Monosomy 18P
Carious teeth, Micrognathia, Abnormal antihelix morphology, Protruding ear, Brachycephaly, Brachy... ORPHA:1598
Acrofrontofacionasal Dysostosis 2
Low-set ears, Broad thumb, Broad hallux, Brachycephaly, Hand polydactyly, Short stature, Overfold... OMIM:239710
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Raine Syndrome
Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Large f... OMIM:259775
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly, Mandibular prognathia OMIM:309545
Desmosterolosis
Low-set ears, Abnormal earlobe morphology, Micrognathia, Agenesis of corpus callosum, Polymicrogy... ORPHA:35107
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Decreased body weight, Dysplastic corpus callosum, Agenesis of corpus callosum, M... OMIM:614833
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Wormian bones, Brachyc... OMIM:604757
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Growth delay, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Low-set, posteriorly ... ORPHA:3369
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Low-set ears, Mandibular prognathia, Failure to thrive, Hypoplasia of the brainstem, Simplified g... OMIM:620001
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Osteopenia, Failure to thrive, Decreased muscle mass, Intrauterine gr... OMIM:612940
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Adams-Oliver Syndrome 2
Low-set ears, Lateral ventricle dilatation, Polymicrogyria, Micrognathia, Absent distal phalanges... OMIM:614219
Pentasomy X
Small hand, Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognath... ORPHA:11
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Hypoplasia of the zygoma... ORPHA:1798
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Slender build, Brachycephaly OMIM:300699
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Arthrogryposis-like hand anomaly, Plagiocephaly, Hearing impairment, Clinodactyly, ... ORPHA:369891
Temtamy Syndrome
Low-set ears, Short toe, Micrognathia, Clinodactyly of the 5th finger, Joint hypermobility, Brach... ORPHA:1777
Crouzon Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Multiple suture cra... ORPHA:207
Acrodysostosis 1 With Or Without Hormone Resistance
Hearing impairment, Long hallux, Calvarial hyperostosis, Dislocated radial head, Cone-shaped epip... OMIM:101800
Cataract-Intellectual Disability-Hypogonadism Syndrome
Ulnar deviation of finger, Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology ... ORPHA:1387
Sandestig-Stefanova Syndrome
Low-set ears, Retrognathia, Clinodactyly, Trigonocephaly, Underdeveloped tragus, Intrauterine gro... OMIM:618804
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cupped ear, Lateral ventricle dilatation, Retrognathia, Sandal gap, Umbilical hernia, Micrognathi... OMIM:618914
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Joint hypermobility, Wormian bones, Brachydactyly, Osteoporosis, ... ORPHA:2787
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... ORPHA:2788
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Periventricular nodular heterotopia, Micrognathia, ... OMIM:619135
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypop... ORPHA:163966
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Large earlobe, Polydactyly, Hernia, Joint hypermobility, Hydrocephalus, Microphth... OMIM:602501
Congenital Muscular Dystrophy With Cerebellar Involvement
Calf muscle pseudohypertrophy, Muscular dystrophy, Occipital encephalocele, Hypoplasia of the pon... ORPHA:370959
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Hypoplasia of the pons, Polymicrogyria, Abnormal brainstem morpholo... ORPHA:300573
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-limb short s... OMIM:259420
Summitt Syndrome
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Clinodactyly of ... ORPHA:3210
Thanatophoric Dysplasia
Low-set ears, Abnormal ilium morphology, Disproportionate short-limb short stature, Hearing impai... ORPHA:2655
Microcephaly-Micromelia Syndrome
Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardatio... OMIM:251230
Mosaic Trisomy 1
Low-set ears, Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Congen... ORPHA:1692
Lujan-Fryns Syndrome
Low-set ears, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Joint hypermobili... ORPHA:776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, S... OMIM:615249
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Low-set ears, Carpal synostosis, Micrognathia, Large fontanelles, Pa... OMIM:218600
Clark-Baraitser Syndrome
Low-set ears, Clinodactyly, Sandal gap, Large earlobe, Obesity, Brachycephaly, Dolichocephaly OMIM:617752
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Turricephaly, Brachyc... ORPHA:93262
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Camptodactyly of finger, Low-set, posteriorly rotated ears, Del... ORPHA:83
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Clinodactyly, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Hearing impairment, Micromelia, Lethal short-limbed short stature, Joint stiffn... ORPHA:1860
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Hearing impairment, Persistent open anterior fontanelle, Delayed cran... ORPHA:357058
Warburg Micro Syndrome 3
Decreased muscle mass, Polymicrogyria, Postnatal growth retardation, Micrognathia, Ankle clonus, ... OMIM:614222
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Knee flexion contracture, Down-sloping shoulders, Cubitus valgus, Microphthalmia, C... OMIM:619694
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Arachnodactyly, Talipes e... OMIM:182212
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Large fleshy ears, Obesity, Brachycephaly, Clinodactyly of the 5th finger, Abnormal pinna morphol... ORPHA:352530
Wieacker-Wolff Syndrome, Female-Restricted
Low-set ears, Microretrognathia, Rocker bottom foot, Radial deviation of the hand, Hip contractur... OMIM:301041
Acalvaria
Calvarial skull defect, Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Postaxial... ORPHA:945
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Delayed cranial suture closure, Intrauterine growth retardation, Micr... ORPHA:1832
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E... ORPHA:1106
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Hearing impairment, Finger syndactyly, Prominent crus of helix, Delaye... ORPHA:794
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Low-set ears, Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Delayed ... ORPHA:2211
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Arthrogryposis multiplex congenita, Hypoplasia of the pons, Micrognathia, Large fon... OMIM:619512
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Microphthalmia, Short s... OMIM:300887
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Micrognat... OMIM:620073
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Plagiocephaly, Skeletal muscle atrophy, Upper limb muscle weakness, Lo... ORPHA:1143
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Walker-Warburg Syndrome
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal... ORPHA:899
Potocki-Shaffer Syndrome
Parietal foramina, Micrognathia, Decreased skull ossification, Brachycephaly, Delayed puberty ORPHA:52022
Thanatophoric Dysplasia Type 2
Limitation of joint mobility, Hearing impairment, Micromelia, Abnormal metaphysis morphology, Enc... ORPHA:93274
Achondrogenesis, Type Ii
Microretrognathia, Disproportionate short-limb short stature, Abnormally large globe, Broad long ... OMIM:200610
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Brachycephaly, Frontal bossing, Bilateral sensorineural hearing impairment OMIM:264470
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Delayed cranial suture closure, Aplasia/Hypoplasia of... OMIM:113000
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Patellar ... OMIM:620663
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell... ORPHA:3103
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Umbilical hernia, Malar flattening, Sensorineural hearing impairment, Agenesis of c... OMIM:612582
Ritscher-Schinzel Syndrome 4
Premature anterior fontanel closure, Plagiocephaly, Agenesis of corpus callosum, Joint hypermobil... OMIM:619435
Lissencephaly 6 With Microcephaly
Lissencephaly, Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia, Microlissen... OMIM:616212
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Hearing impairment, Failure to thrive, Intrauterine growth retardation, Micrognath... OMIM:619833
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Hypoplasia of the maxilla, Plagiocephaly, Broad thumb, Hearing im... OMIM:620099
Temtamy Syndrome
Low-set ears, Hip dislocation, Micrognathia, Agenesis of corpus callosum, Talipes equinovarus, Br... OMIM:218340
Joubert Syndrome 37
Low-set ears, Frontal bossing, Obesity, Joint hypermobility, Postaxial polydactyly, Molar tooth s... OMIM:619185
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... OMIM:614416
Sweeney-Cox Syndrome
Low-set ears, Short distal phalanx of finger, Crumpled ear, Cupped ear, Hearing impairment, Micro... OMIM:617746
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femor... OMIM:613320
Al Kaissi Syndrome
Low-set ears, Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retarda... OMIM:617694
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Bilateral microphthalmos, Obesity, Large for gest... ORPHA:2563
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Intrauterine growth retardation, Micrognathia, Microphthalmia, Finger joint con... ORPHA:48431
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Diaphyseal undertubul... ORPHA:175
3P25.3 Microdeletion Syndrome
Broad thumb, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Micrognathia, Knee flexion c... ORPHA:435638
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Agenesis of corpus callosum, Orbital encephalocele, Mic... OMIM:164180
Hallermann-Streiff Syndrome
Low-set ears, Natal tooth, Micrognathia, Microphthalmia, Tracheomalacia, Proportionate short stat... OMIM:234100
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Micrognathia, Brachycephaly, Short stature, Spina bifida occulta ORPHA:1514
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Brachycephaly, Lateral ventricle dilatation OMIM:619972
Cousin Syndrome
Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Hearing impairment, Hypoplasti... OMIM:260660
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
De Barsy Syndrome
Low-set ears, Decreased muscle mass, Postnatal growth retardation, Talipes equinovarus, Bilateral... ORPHA:2962
Biemond Syndrome Type 2
Preaxial polydactyly, Obesity, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature ORPHA:141333
Lissencephaly 8
Skeletal muscle atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissenceph... OMIM:617255
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Hearing impairment, Slender long bone, Intrauterine growth retardation... OMIM:619795
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Broad distal phalanx of finger, Sandal gap, Micrognathia, Postaxial polydactyly, Br... OMIM:615761
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men... ORPHA:101030
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Failure to thrive, Micrognathia, Brachycephaly, Hydrocephalus, Short s... OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, P... OMIM:615181
49,Xxxxy Syndrome
Hip dislocation, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, Elbow d... ORPHA:96264
Coffin-Siris Syndrome 6
Low-set ears, Plagiocephaly, Conductive hearing impairment, Retrognathia, Clinodactyly, Frontal b... OMIM:617808
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Congenital hip dislocation, Joint contracture of the hand, Brachyturricephaly, Hype... OMIM:300280
Ring Chromosome 10 Syndrome
Low-set ears, Sandal gap, Large earlobe, Intrauterine growth retardation, Micrognathia, Abnormal ... ORPHA:1438
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Agenesis of corpus callosum, Severe failure to thrive, Bilateral sensorin... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Hypoplasia of the brainstem, Calf muscle hypertrophy, Hydrocephalus, Micropht... OMIM:613155
Autosomal Recessive Primary Microcephaly
Growth delay, Pachygyria, Abnormal cortical bone morphology, Agenesis of corpus callosum, Gray ma... ORPHA:2512
Bohring-Opitz Syndrome
Low-set ears, Overlapping toe, Micrognathia, Agenesis of corpus callosum, Dislocated radial head,... OMIM:605039
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormality of neuronal migr... ORPHA:44
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Muscular dystrophy, Hydrocephalus, Microphthalmia OMIM:614830
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Abnormality of neuronal migration, Limb undergrowth, Abnormal ... ORPHA:2204
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Small hand, Lateral ventricle dilatation, Congenital fibrosis of extraocular muscle... ORPHA:300570
Warburg Micro Syndrome 2
Polymicrogyria, Postnatal growth retardation, Overlapping toe, Asymmetry of the ears, Clinodactyl... OMIM:614225
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Brachycephaly, Bra... ORPHA:2163
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis imperfecta, Microretrognath... OMIM:616294
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Abnormality of the wrist, Micrognathia, Abnormal femur morphology, Congenital diap... ORPHA:2063
Chromosome 2Q37 Deletion Syndrome
Short toe, Obesity, Type E brachydactyly, Malar flattening, Sensorineural hearing impairment, Bra... OMIM:600430
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Skeletal muscle atrophy, Hearing impairment, Wide distal femoral metap... OMIM:614856
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Bresek Syndrome
Low-set ears, Plagiocephaly, Hearing impairment, Intrauterine growth retardation, Neonatal death,... ORPHA:85284
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Mandibular prog... OMIM:123500
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Low-set ears, Brachycephaly, Short stature, Craniosynostosis, Frontal bossing, Macrotia ORPHA:314575
Alkuraya-Kucinskas Syndrome
Low-set ears, Hand clenching, Plagiocephaly, Clinodactyly, Hypoplasia of the brainstem, Overlappi... OMIM:617822
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Fibrochondrogenesis 1
Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, ... OMIM:228520
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Retrognathia, Slender long bone, Trigonocephaly, Micrognathia, Decreased calvarial... OMIM:618265
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Joint hypermobility, 2-3 toe syndactyly, Hernia, Brachycephaly... ORPHA:3306
19P13.12 Microdeletion Syndrome
Low-set ears, Toe clinodactyly, Conductive hearing impairment, Finger syndactyly, Sandal gap, Obe... ORPHA:254346
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Recurrent otitis media, Ankle clonus, Brachycephaly, Brachydactyly,... OMIM:619995
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Arachnodactyly, Short foot, Plagiocephaly, Knee flexion contracture, Posteriorly rot... OMIM:613776
Apert Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Conductive hearing impairment, Brachyturricepha... ORPHA:87
Menkes Disease
Metaphyseal spurs, Intrauterine growth retardation, Joint hypermobility, Wormian bones, Brachycep... OMIM:309400
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Osteomalacia, Micrognathia, Large hands, M... ORPHA:2671
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Abnormal earlobe ... ORPHA:95699
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Skeletal muscle atrophy, Abnormal epiphysis morpho... ORPHA:970
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Osteopenia, Metaphyseal cupping, Hearing impairment, Pathologic fracture, M... OMIM:156400
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Low-set ears, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Arachnodactyly... ORPHA:562528
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation, Inguinal hernia, Brachycephaly, Mandibular prognathia ORPHA:85290
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Low-set ears, Partial duplication of the distal phalanx of the 3rd f... OMIM:101400
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Slender build, Malar flatten... ORPHA:364028
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Osteopenia, Hearing impairment, Increased susceptibility to fractures,... OMIM:610968
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Sensorineural hearing imp... OMIM:305450
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Metaphyseal irregularity, Disproportionate sh... OMIM:187600
Trisomy 20P
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Pre... ORPHA:261318
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Large posterior fontanelle, Short tibia, Preaxial polydactyly, Microgn... OMIM:617925
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Cupped ear, Atresia of the external auditory canal, Hearing impairment, Finger sy... ORPHA:264200
Van Maldergem Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Clinodactyly, Cutaneous finger syndac... OMIM:615546
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Severe short stature, Metaphyseal cupping, Plagiocephaly, Retrogn... OMIM:618853
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Intrauterine growth retardation, Mi... ORPHA:2050
48,Xxxy Syndrome
Hip dislocation, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, Elbow d... ORPHA:96263
Heart And Brain Malformation Syndrome
Low-set ears, Hand clenching, Growth delay, Camptodactyly of finger, Prominent occiput, Attached ... OMIM:616920
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Lateral ventricle dilatation,... OMIM:619229
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Large fontanelles, Hum... OMIM:151050
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Hydrocepha... ORPHA:352682
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Skull asymmetry, Stapes ankylosis, Enamel agenesis, 2-3 toe syndactyly, Radioulnar ... OMIM:614701
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Broad thumb, Shortening of all middle phalan... OMIM:101600
Osteogenesis Imperfecta
Carious teeth, Hearing impairment, Abnormal tibia morphology, Micrognathia, Large fontanelles, Ge... ORPHA:666
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Low-set ears, Broad proximal phalanges of the hand, Brachyturricephaly, Bilateral microphthalmos,... OMIM:607597
Curry-Jones Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Foot polydactyly, Agen... ORPHA:1553
German Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Brachycephaly, Short stature... ORPHA:2077
White-Sutton Syndrome
Low-set ears, Mandibular prognathia, Broad thumb, Failure to thrive, Obesity, Micrognathia, Intra... OMIM:616364
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Failure to thrive, Muscle fiber atrophy, Micrognathia, Brachycephaly, Flexion contracture OMIM:620240
Stevenson-Carey Syndrome
Low-set ears, Joint contracture of the hand, Microphthalmia, Brachycephaly, Hip dysplasia, Campto... OMIM:611961
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Microphthalmia, Frontal boss... ORPHA:2547
Smith-Magenis Syndrome
Mandibular prognathia, Toe syndactyly, Conductive hearing impairment, Failure to thrive in infanc... ORPHA:819
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Flexion contractu... OMIM:601812
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Abnormal cortical bone morphology, Prominence of the premaxilla, Decreased body we... OMIM:614886
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Micromelia, Low-set, posteriorly rotated ears, Intraut... ORPHA:2772
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Congenital hip dislocation, Joint contracture of the hand, Distal amyotrophy, Foot joint contract... ORPHA:456312
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Toe syndactyly, Hearing impairment, Broad thumb, Hypoplastic iliac win... OMIM:609945
Lissencephaly 5
Occipital encephalocele, Hearing impairment, Hypoplasia of the brainstem, Type II lissencephaly, ... OMIM:615191
Aymé-Gripp Syndrome
Low-set ears, Limitation of joint mobility, Delayed cranial suture closure, Postnatal growth reta... ORPHA:1272
2P15P16.1 Microdeletion Syndrome
Low-set ears, Toe clinodactyly, Optic nerve hypoplasia, Hearing impairment, Retrognathia, Camptod... ORPHA:261349
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Fibular bowing, Flat occiput,... OMIM:277440
Mmep Syndrome
Triphalangeal thumb, Mandibular prognathia, Split foot, Microphthalmia ORPHA:3434
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly, Hypoplasia of the brainstem, Pachygyria, Facial hypotonia, Short foot, Frontal pol... OMIM:614563
Ritscher-Schinzel Syndrome 1
Low-set ears, Intrauterine growth retardation, Prominent occiput, Micrognathia, Brachycephaly, Hy... OMIM:220210
Smith-Magenis Syndrome
Hearing impairment, Abnormal middle ear morphology, Malar flattening, Increased body weight, Brac... OMIM:182290
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Aplastic clavicle, Plagiocephaly, Parietal foramina, Hearing impairment... ORPHA:85199
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of teeth, Hearing imp... ORPHA:2484
Curry-Jones Syndrome
Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ... OMIM:601707
Galloway-Mowat Syndrome
Hypoplasia of the ear cartilage, Camptodactyly of finger, Intrauterine growth retardation, Microg... ORPHA:2065
Cerebrooculonasal Syndrome
Low-set ears, Conductive hearing impairment, Proboscis, Postnatal growth retardation, Malar flatt... OMIM:605627
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Natal tooth, Hearing impairment, Failure to thrive, Umbilical hernia, Tracheomalac... ORPHA:261652
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Microphthalmia ORPHA:324416
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Plagiocephaly, Sandal gap, Frontal bossing, Obesity, Brachycephaly, Clinodactyly of... OMIM:618430
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Anterior radial he... OMIM:610967
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:1980
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, Chronic otitis media, Flat occiput, Coronal craniosyno... OMIM:614188
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation,... OMIM:210710
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Osteopenia, Mandibular prognathia, Retrognathia, Failure to thrive, Slender long bo... OMIM:212066
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Recurrent... OMIM:617751
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Brachyturricepha... ORPHA:1225
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Low-set ears, Hand clenching, Elbow dislocation, Arachnodactyly, Radial head subluxation, Hip dis... OMIM:620083
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Prominent fingertip pads, Frontal bossing, Joint hypermobility, Bra... OMIM:615828
Hyperparathyroidism, Transient Neonatal
Low-set ears, Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Ing... OMIM:618188
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Mandibular prognathia, Cupped ear, Retrognathia, Sandal gap, Postnatal growth retar... OMIM:156200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal b... ORPHA:371428
20Q11.2 Microduplication Syndrome
Retrognathia, Low-set, posteriorly rotated ears, Trigonocephaly, Limited elbow extension, Promine... ORPHA:363659
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Brachycephaly, Hypomimic face ORPHA:320385
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Short stature, Brachycephaly, Failure to thrive OMIM:309541
Kury-Isidor Syndrome
Low-set ears, Growth delay, Finger syndactyly, Recurrent otitis media, Talipes equinovarus, Brach... OMIM:619762
Craniofrontonasal Syndrome
Axillary pterygium, Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux... OMIM:304110
Three M Syndrome 1
Short 5th finger, Mandibular prognathia, Small for gestational age, Joint dislocation, Slender lo... OMIM:273750
2Q23.1 Microdeletion Syndrome
Sandal gap, Malar flattening, Brachycephaly, Hip dysplasia, Short stature, Clinodactyly of the 5t... ORPHA:228402
Silver-Russell Syndrome 3
Low-set ears, Small hand, Retrognathia, Elbow contracture, Postnatal growth retardation, Decrease... OMIM:616489
Houge-Janssens Syndrome 2
Plagiocephaly, Broad hallux, Deviation of the 5th finger, Agenesis of corpus callosum, Postaxial ... OMIM:616362
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Failure to thrive, Bulging ep... OMIM:600081
Warburg Micro Syndrome 4
Decreased muscle mass, Severe postnatal growth retardation, Brachycephaly, Microphthalmia, Short ... OMIM:615663
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Short thumb, Obesity, Micr... OMIM:618821
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Congenital diaphragmatic hernia, Anophthalmia, Neonatal death, Microp... OMIM:615524
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Failure to thrive ORPHA:1314
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Congenital sensorineural hearing impairment, Micrognathia, Decreased body weight... OMIM:617306
Osteogenesis Imperfecta, Type Xx
Low-set ears, Crumpled ear, Plagiocephaly, Mandibular prognathia, Retrognathia, Disproportionate ... OMIM:618644
Trisomy 13
Low-set ears, Abnormal helix morphology, Abnormal pelvic girdle bone morphology, Ectrodactyly, In... ORPHA:3378
Hydrolethalus
Low-set ears, Retrognathia, Micromelia, Low-set, posteriorly rotated ears, Micrognathia, Anophtha... ORPHA:2189
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Severe short stature, Ulnar deviation of finger, Broad thumb, Elbow dislocation, Micro... ORPHA:2249
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Plagiocephaly, Clinodactyly, Talipes equinovarus, Brachycephaly, Macroglossia, Fron... OMIM:616789
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Sensorineural hearing ... OMIM:214100
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Carious teeth, Delayed cranial suture closure, Postnatal growth retardation, Intraute... ORPHA:93324
Richieri-Costa/Guion-Almeida Syndrome
Hearing impairment, Malar flattening, Abnormal digit morphology, Brachycephaly, Short stature, Sp... OMIM:268850
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Hearing impairment, Clinodactyly, Brachydactyly, Microphthalmia, Short stature, Syndactyly OMIM:610023
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Hearing impairment, Brachycephaly, Clinodactyly of the 5th finger, Thicke... OMIM:618828
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly, Hypomimic face OMIM:615031
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Conductive hearing impairment, Absent thumb, Short 1st metacarpal, Short ... OMIM:609053
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Failure to thrive, Polymicrogyria, Brachycephaly, Microphthalmia OMIM:612379
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Malar ... OMIM:257300
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Reduced subcutaneous adipose tissue, Neonatal death, Microphthalmia, ... OMIM:612289
Cerebrooculofacioskeletal Syndrome 2
Hearing impairment, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Micro... OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Skeletal muscle atrophy, Hypoplasia of the brainstem, Type II lissencephaly, ... OMIM:253800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, 2-3 toe cutaneous syndactyly, Malar flattening, Decreased body weight, Brachycephal... OMIM:300260
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing impairment, Rec... OMIM:616229
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Proximal amyotrophy... ORPHA:370980
Xq28 (MECP2) duplication
Brachycephaly, Failure to thrive, Malar flattening, Macrotia DECIPHER:45
Joubert Syndrome 30
Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI, Postaxial hand polydactyly,... OMIM:617622
Hamamy Syndrome
Low-set ears, Osteopenia, Dental malocclusion, Neck pterygia, Micrognathia, Clinodactyly of the 5... OMIM:611174
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Bilateral microphthalmos, Clinodactyly of th... ORPHA:2399
Monosomy 9P
Low-set ears, Limitation of joint mobility, Atresia of the external auditory canal, Trigonocephal... ORPHA:261112
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Delayed eruption of teeth, Increased body weight, Wormian bones, Omph... OMIM:614450
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Plagiocephaly, Lateral ventricle dilatation, Short stature, Frontal bossing OMIM:618330
Otopalatodigital Syndrome, Type Ii
Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth re... OMIM:304120
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Cranial asymmetry, Pachygyria, Gray matter heterotopia ORPHA:99802
Fetal Trimethadione Syndrome
Low-set ears, Abnormal helix morphology, Intrauterine growth retardation, Micrognathia, Brachycep... ORPHA:1913
6Q Terminal Deletion Syndrome
Plagiocephaly, Failure to thrive, Clinodactyly, Polymicrogyria, Low-set, posteriorly rotated ears... ORPHA:75857
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Anophthalmia, Agenesis of corpus callosum, Abnormal metacarpal morphology, Mic... ORPHA:2538
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Small hand, Plagiocephaly, Toe syndactyly, Hearing impairment, Frontal bossing,... OMIM:610759
Neurofaciodigitorenal Syndrome
Low-set ears, Hypoplasia of the premaxilla, Plagiocephaly, Atresia of the external auditory canal... ORPHA:2673
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wormian bones, Br... ORPHA:2863
3C Syndrome
Low-set ears, Finger syndactyly, Postnatal growth retardation, Abnormal hip bone morphology, Prom... ORPHA:7
9P13 Microdeletion Syndrome
Low-set ears, Microretrognathia, Umbilical hernia, Recurrent otitis media, Joint stiffness, Abnor... ORPHA:324313
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Broad thumb, Failure to thrive, Intrauterine growth retardation, Clinodactyly of ... ORPHA:250989
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Decreased body weight, Torticollis, Plag... OMIM:618371
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Flat occiput, Rickets, Femoral bowing, Tibial bo... OMIM:264700
7Q11.23 Microduplication Syndrome
Hearing impairment, Abnormal earlobe morphology, Micrognathia, Congenital diaphragmatic hernia, C... ORPHA:96121
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Postnatal growth r... ORPHA:3472
Joubert Syndrome 2
Low-set ears, Postaxial foot polydactyly, Failure to thrive, Hypoplasia of the brainstem, Brainst... OMIM:608091
Desanto-Shinawi Syndrome
Hearing impairment, Sensorineural hearing impairment, Brachycephaly, Posteriorly rotated ears, Ab... OMIM:616708
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
X-Linked Dominant Chondrodysplasia Punctata
Low-set ears, Hip dislocation, Epiphyseal stippling, Microphthalmia, Sensorineural hearing impair... ORPHA:35173
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Large fontanelle... ORPHA:2658
Lowry-Maclean Syndrome
Low-set ears, Osteopenia, Hypoplasia of the maxilla, Widely patent coronal suture, Retrognathia, ... ORPHA:2409
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Skeletal muscle atrophy, Brachycephaly, Short stature, Prominent metopic ridge OMIM:618862
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... ORPHA:2839
Kleefstra Syndrome
Limitation of joint mobility, Hearing impairment, Delayed eruption of teeth, Tracheomalacia, Obes... ORPHA:261494
Kapur-Toriello Syndrome
Low-set ears, Atresia of the external auditory canal, Failure to thrive, Polymicrogyria, Dysplast... ORPHA:2328
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Unicoronal synostosis, Shor... OMIM:616300
Seckel Syndrome 1
Low-set ears, Ivory epiphyses, Postnatal growth retardation, Micrognathia, Dislocated radial head... OMIM:210600
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Delayed cranial suture closure, M... ORPHA:79328
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Large fontanelle... ORPHA:1827
Loeys-Dietz Syndrome 5
Bilateral coxa valga, Retrognathia, Decreased muscle mass, Growth delay, Failure to thrive in inf... OMIM:615582
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Delayed cranial suture ... OMIM:603116
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Plagiocephaly, Elbow flexion contracture, Low-set, posteriorly rotated ears, Intraute... ORPHA:371364
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Small hand, Plagiocephaly, Hearing impairment, Failure to thrive, Brachycephaly, Hydrocephalus, H... ORPHA:500055
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Abnormally large globe, Contractures of the large ... ORPHA:2457
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Osteomalacia, Postnatal growth retardation, Genu varum, Flat occ... ORPHA:289157
Intellectual Developmental Disorder, X-Linked 12
Sensorineural hearing impairment, Abnormality of neuronal migration, Joint hypermobility, Truncal... OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Muscular dystrophy, Optic nerve hypoplasia, Congenital contracture, Atresia of the ... OMIM:236670
Congenital Disorder Of Deglycosylation 2
Genu recurvatum, Broad thumb, Hearing impairment, Sandal gap, Polymicrogyria, Micrognathia, Ulnar... OMIM:619775
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Clinodactyly of the 5th finger, Conjunctival... OMIM:167730
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Lateral ventricle dilatation, Obesity, Brachycephaly, Limb hypertonia, Partial age... OMIM:617296
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Congenital Toxoplasmosis
Hearing impairment, Failure to thrive in infancy, Intrauterine growth retardation, Hydrocephalus,... ORPHA:858
Alagille Syndrome
Short distal phalanx of finger, Failure to thrive, Intrauterine growth retardation, Micrognathia,... ORPHA:52
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Failure to thrive, Brachycephaly, Lipodystrophy, Frontal bossing, Hip dislocation OMIM:608776
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Orbital craniosynostosis, Microg... OMIM:112240
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Joint dislocation, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench f... OMIM:618870
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Low-set ears, Metaphyseal cupping of metacarpals, Skeletal muscle atrophy, Cone-shaped capital fe... OMIM:300232
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Broad distal phalanx of finger, Postaxial foot polydactyly, Micrognathia, 2-3 toe s... ORPHA:404440
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Genu valgum, Myopathy, Sensorineural hearing impairment, Bilat... ORPHA:309282
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus cal... OMIM:277170
8Q12 Microduplication Syndrome
Brachycephaly, Short foot, Sensorineural hearing impairment ORPHA:228399
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Protruding ear, Colpocephaly, Plagiocephaly, Polymicrogyria OMIM:618731
Galloway-Mowat Syndrome 1
Low-set ears, Slender finger, Joint contracture of the hand, Hand clenching, Hypoplasia of the br... OMIM:251300
Cerebrofacioarticular Syndrome
Osteopenia, Hypoplasia of the maxilla, Conductive hearing impairment, Caudal appendage, Tracheoma... ORPHA:314679
Pyruvate Dehydrogenase E1-Beta Deficiency
Abnormal calvaria morphology, Hypoplasia of the brainstem, Intrauterine growth retardation, Periv... ORPHA:255138
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac... ORPHA:1784
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Low-set, posteriorly rotated ears, Obesity, Micrognathia, Inguinal he... ORPHA:3191
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Short distal phalanx of finger, Conductive h... ORPHA:2095
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Disproportionate short-limb short stature, Bowing of limbs due to multiple fractures, Decreased c... OMIM:259410
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Disproportionate short-limb short stature, Bowing of limbs due to mult... OMIM:259440
Trisomy 18
Congenital diaphragmatic hernia, Hernia, Cachexia, Microphthalmia, Holoprosencephaly, Low-set, po... ORPHA:3380
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Small for gestational age, Microphthalmia OMIM:278780
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Short distal phalanx of finger, Skeletal mu... ORPHA:192
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Slender build, Micrognathia, Sensorineural hea... ORPHA:93932
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Brachycephaly, Abnormal tragus morphology, Posta... ORPHA:66625
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Brachycephaly, Obesity OMIM:615985
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Low-set ears, Osteopenia, Large for gestational age, Ankle clonus, B... OMIM:615398
2Q31.1 Microdeletion Syndrome
Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Abnorma... ORPHA:251014
Lessel-Kreienkamp Syndrome
Hypoplastic helices, Plagiocephaly, Dental malocclusion, Hearing impairment, Scaphocephaly, Clino... OMIM:619149
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Lateral ventricle dilatation, Periventricular heterotopia, Microphthalmia, Frontal ... OMIM:614105
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Umbilical hernia, Intrauterine growth retardation, Malar flattening, Inguinal he... ORPHA:1292
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Postnatal growth retardation, Microphthalmia, Hypoplastic inferior ilia, ... OMIM:608940
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Persistence of primary teeth, Obesity, Malar flattening, Talipes... OMIM:610253
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Mesomelia, Atresia of the external auditory canal, Shortening of all phalanges of fingers, Wormia... OMIM:601356
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Osteopenia, Disproportionate short-limb short stature, Radial bowing, ... OMIM:610915
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Frontal bossing, Sensorineural hearing impairment, Agenesis of corpus callosum, Macular hypoplasi... OMIM:615219
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Agene... OMIM:264090
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Low-set ears, Lateral ventricle dilatation, Agenesis of corpus callosum, Brachycephaly, Simplifie... OMIM:619244
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hearing impairment, Absent paranasal sinuses, Hypoplastic iliac wing, Micro... OMIM:119600
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Bilateral microphthalmos, Lateral ventricle dilatation, Atrophy/Degener... ORPHA:77299
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Failure to thrive, Finger clinodactyly, Frontal bossing, Low-set, ... ORPHA:2754
Galloway-Mowat Syndrome 3
Low-set ears, Failure to thrive, Pachygyria, Intrauterine growth retardation, Micrognathia, Arach... OMIM:617729
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Brachycephaly, Broad thumb, Frontal bossing OMIM:617364
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Brachyturricephaly, Hearing impairment, Retrognathia, Encephalocele... ORPHA:314621
Pycnodysostosis
Aplastic clavicle, Carious teeth, Persistent open anterior fontanelle, Delayed eruption of perman... OMIM:265800
Malan Overgrowth Syndrome
Plagiocephaly, Lateral ventricle dilatation, Slender long bone, Hypoplasia of the brainstem, Opti... ORPHA:420179
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Delayed cranial suture closure, Postnatal growth retard... OMIM:248370
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Patchy osteosclerosis, Small hand, Frontal bossing, Postnatal growth retardation, M... OMIM:241410
Intellectual Disability-Strabismus Syndrome
Low-set ears, Joint contracture of the hand, Plagiocephaly, Limitation of joint mobility, Hearing... ORPHA:363528
Beck-Fahrner Syndrome
Joint hypermobility, Protruding ear, Brachycephaly, Hip dysplasia, Facial hypotonia, Lacrimal duc... OMIM:618798
Cree Impaired Intellectual Development Syndrome
Low-set ears, Cutaneous finger syndactyly, Micrognathia, Large fontanelles, Brachycephaly, Rocker... OMIM:606851
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hearing impairment, Failure to thrive, Obesity, Inguinal hernia, Agenesis of corpus callosum, Bra... ORPHA:96147
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Molar tooth sign... OMIM:615665
Dysosteosclerosis
Natal tooth, Hearing impairment, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, ... OMIM:224300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Hypop... OMIM:613150
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Small hand, Plagiocephaly, Clinodactyly, Sandal gap, Obesity, Tapered finger, Short... OMIM:618089
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Carious teeth, Postnatal growth retardation, Dysplasia of the femoral head, Microgn... ORPHA:536467
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Micr... ORPHA:96149
Cat-Eye Syndrome
Hearing impairment, Intrauterine growth retardation, Microphthalmia, Short stature, Hip dysplasia ORPHA:195
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Pterygium, Femoral bowing, Inguinal hernia, Knee flexion c... OMIM:609220
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Broad long bon... OMIM:166210
Marshall-Smith Syndrome
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Agenesis of corpus cal... OMIM:602535
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Sandal gap, Trigonocephaly, Congenital diaphragmatic hernia, Talipes equinovarus, M... OMIM:612530
Lateral Meningocele Syndrome
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Keloids, Dec... OMIM:130720
Atelosteogenesis Type Ii
Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, Broad phalanx, Bilateral talipes equi... ORPHA:56304
Arthrogryposis, Distal, Type 4
Hypoplastic helices, Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibu... OMIM:609128
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hearing impairment, Failure to thrive, Postna... OMIM:302960
Frontonasal Dysplasia 2
Low-set ears, Parietal foramina, Intrauterine growth retardation, Calvarial skull defect, Encepha... OMIM:613451
Joubert Syndrome 14
Low-set ears, Growth delay, Hypoplasia of the brainstem, Malar flattening, Encephalocele, Postaxi... OMIM:614424
Chopra-Amiel-Gordon Syndrome
Short stature, Postnatal growth retardation, Brachycephaly, Joint hypermobility OMIM:619504
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Postaxial foot polydactyly, Conductive hearing impairment, Flared meta... OMIM:252100
Carpenter Syndrome 2
Low-set ears, Carious teeth, Broad thumb, Cutaneous finger syndactyly, Sensorineural hearing impa... OMIM:614976
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Hypoplasia of the maxilla, Broad phalanges of the hand, Microspheroph... OMIM:608328
Marshall Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum, Malar fla... ORPHA:560
Acromelic Frontonasal Dysostosis
Low-set ears, Optic nerve hypoplasia, Parietal foramina, Patellar hypoplasia, Short tibia, Preaxi... OMIM:603671
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Miller-Dieker Lissencephaly Syndrome
Low-set ears, Joint contracture of the hand, Delayed eruption of teeth, Failure to thrive, Fronta... OMIM:247200
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Micrognathia, Genu valgum, Sensorineural h... ORPHA:193
Frontonasal Dysplasia 3
Low-set ears, Brachycephaly, Posteriorly rotated ears, Microphthalmia OMIM:613456
Man1B1-Cdg
Low-set ears, Clinodactyly of the 5th finger, Periventricular heterotopia, Malar flattening, Join... ORPHA:397941
Congenital Varicella Syndrome
Intrauterine growth retardation, Atypical scarring of skin, Micromelia, Microphthalmia ORPHA:291
Spondylo-Ocular Syndrome
Low-set ears, Abnormal antihelix morphology, Joint hypermobility, Disproportionate short-trunk sh... ORPHA:85194
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Large fo... OMIM:300373
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Joint contracture of the hand, Conductive hearing impairment, Delayed crani... OMIM:611962
Garg-Mishra Progeroid Syndrome
Slender long bone, Persistent open anterior fontanelle, Slender metacarpals, Postnatal growth ret... OMIM:620601
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Decreased muscle mass, Long hallux, Recurrent fractures, Thickened calvaria, Talipes equinovarus,... OMIM:309583
Bruck Syndrome
Pterygium, Joint stiffness, Bowing of the long bones, Wormian bones, Talipes equinovarus, Short s... ORPHA:2771
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Failure to thrive, Aniridia, Decreased skull ossification, ... OMIM:602361
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos