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Gene: Kat6b MGI:1858746

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

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 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.

Human diseases associated with Kat6b (4 diseases)
Human diseases predicted to be associated with Kat6b (967 diseases)

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

Disease	Matching phenotypes	Source
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Hearing impairment, Micro...	OMIM:606170
Ohdo Syndrome, Sbbys Variant	Posteriorly rotated ears, Micrognathia, Prominent occiput, Patellar dislocation, Low-set ears, Lo...	OMIM:603736
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Patell...	ORPHA:85201
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Failure to thrive, Severe short stature, Posteriorly rotated ears, Camptodactyly of finger, Micro...	ORPHA:3047

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

Disease	Matching phenotypes	Source
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Talipes equinovarus, Low-set ears, Microphthalmia, Arthrogrypos...	OMIM:616570
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Reduced bone mineral density, Atrophy/Degeneration affecting the brainstem, Agenes...	OMIM:620200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal pl...	ORPHA:93267
Pierpont Syndrome	Joint laxity, Small for gestational age, Posteriorly rotated ears, Uplifted earlobe, Abnormal cor...	ORPHA:487825
Gómez-López-Hernández Syndrome	Turricephaly, Short stature, Hydrocephalus, Abnormal brainstem morphology, Brachycephaly, Low-set...	ORPHA:1532
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posterio...	OMIM:600325
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha...	OMIM:175700
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of cor...	OMIM:300067
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydr...	ORPHA:1528
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Hypoplasia of t...	OMIM:618736
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Severe short stature, Flat occiput, Abnormal thumb morpholo...	ORPHA:2511
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Hydroceph...	ORPHA:171839
Lissencephaly 3	Agyria, Periventricular laminar heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem...	OMIM:611603
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Sensorineural ...	OMIM:616602
Pierpont Syndrome	Decreased body weight, Posteriorly rotated ears, Short stature, Short toe, Brachycephaly, Short f...	OMIM:602342
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Brachycephaly, Thicken...	ORPHA:178377
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Micrognathia, Hypoplasia of the pons, Periventricular heterotopia, Partial agenesi...	OMIM:616171
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel...	ORPHA:163649
Maternal Hyperthermia-Induced Birth Defects	Short stature, Joint stiffness, Abnormality of neuronal migration, Clinodactyly of the 5th finger...	ORPHA:2216
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Brachycephaly,...	OMIM:618577
Grant Syndrome	Joint dislocation, Frontal bossing, Bowing of the long bones, Short stature, Micrognathia, Large ...	ORPHA:2097
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach...	OMIM:201000
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly...	OMIM:607432
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Micrognathia, Brachycephaly, J...	ORPHA:1695
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda...	OMIM:615411
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract...	ORPHA:272
Muenke Syndrome	Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta...	OMIM:602849
Chromosome 3Pter-P25 Deletion Syndrome	Prominent metopic ridge, Flat occiput, Small for gestational age, Overlapping toe, Postaxial poly...	OMIM:613792
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Micrognathia, Pachygyria, Simplified gyral pattern, Abnormality of neurona...	OMIM:604317
Warburg Micro Syndrome 1	Overlapping toe, Short stature, Micrognathia, Macrotia, Perisylvian polymicrogyria, Osteoporosis,...	OMIM:600118
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Macrotia, Preaxial polydactyly, Brachycepha...	OMIM:618142
Gombo Syndrome	Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Attached earlobe, Camptodact...	ORPHA:1327
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Mandibular prognathia, Prominent metopic ridge, Frontal bossing, Arachnodactyly, Sh...	OMIM:619721
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hern...	OMIM:263210
Hao-Fountain Syndrome	Hallux valgus, Trigonocephaly, Large fontanelles, Low-set ears, Clinodactyly of the 5th finger, D...	OMIM:616863
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Simplified gyral pattern, Knee flexion contracture, Wrist flexion contracture, Disl...	OMIM:610758
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Brachycephaly, Metacarpal synostosis, Midface retrusion, Hearing impairment	ORPHA:35099
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, Brachycephaly, Conductive hearing impairment, Large iliac wing, Spina...	ORPHA:2780
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Brachycephaly, Coxa vara, Hypoplastic inferior il...	ORPHA:1452
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Short stature, Micromelia, Craniosynostosis, Micrognathia, Split...	ORPHA:2145
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Small for gestational age, Camptodactyly of fi...	ORPHA:1617
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, ...	ORPHA:439822
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Brachycephaly, Growth delay, Microphthalmia, Retrognathia	ORPHA:2528
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, 4-layered lissencephaly, Abnormality of neuronal migration...	ORPHA:89844
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:136760
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Frontal bossing, Short stature, Wide anterior fontanel, Conducti...	OMIM:608545
Adenylosuccinate Lyase Deficiency	Prominent metopic ridge, Flat occiput, Brachycephaly, Low-set ears	ORPHA:46
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the...	OMIM:109120
Pseudodiastrophic Dysplasia	Frontal bossing, Severe short stature, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow di...	OMIM:264180
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Elbow dislocation, Abn...	ORPHA:2633
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Small for gestational age, Short stature, Micrognathia, Brachycephaly, Umbilical...	OMIM:615834
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fon...	OMIM:207410
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac...	OMIM:613849
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Short stature, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Scaphocep...	ORPHA:459061
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Overlapping toe, Down-sloping shoulders, Abnormal pinna morphology, Tapered finger,...	OMIM:617452
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Low-set ears...	OMIM:615433
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Co...	ORPHA:1520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Abnormally large globe, Multiple joint...	OMIM:245600
Cornelia De Lange Syndrome 2	Short stature, Proximal placement of thumb, Limited elbow movement, Micrognathia, Postnatal growt...	OMIM:300590
Oculodentodigital Dysplasia, Autosomal Recessive	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primary teeth, Short st...	OMIM:257850
Edinburgh Malformation Syndrome	Frontal bossing, Micrognathia, Joint stiffness, Long fingers, Hydrocephalus, Abnormality of neuro...	ORPHA:1895
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Small for gestational age, Broad hallux, Posteriorly ro...	OMIM:614541
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Posteriorly rotated ears, Short stature, Craniosynostosis, Wide anterior fontanel, ...	OMIM:601853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Hydrocephalus, Simplified gyral pattern, Hypoplasia of the brainstem, Lis...	OMIM:613153
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Posteriorly rotated ears, M...	OMIM:616897
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Protruding ear, Clin...	ORPHA:96148
Cebalid Syndrome	Turricephaly, Abnormal pinna morphology, Posteriorly rotated ears, Congenital diaphragmatic herni...	OMIM:618774
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Frontal bossing, Failure to thrive in infancy, Posteriorly rotated e...	OMIM:616801
Cornelia De Lange Syndrome 5	Toe syndactyly, Short stature, Proximal placement of thumb, Micrognathia, Postnatal growth retard...	OMIM:300882
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Inguinal hernia, Arachnodacty...	OMIM:615539
Microphthalmia With Limb Anomalies	Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot...	OMIM:206920
Cofs Syndrome	Prominent metopic ridge, Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, S...	ORPHA:1466
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Short stature...	OMIM:219150
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt...	OMIM:619339
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Limb joint contracture, Arachnodactyly, ...	ORPHA:505237
Chromosome 13Q33-Q34 Deletion Syndrome	Micrognathia, Brachycephaly, Advanced eruption of teeth, Distally placed thumb, Agenesis of corpu...	OMIM:619148
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Short stature, Hydrocephalus, Abnormal location of ears, Brachycephaly, Abnormal...	OMIM:218350
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Failure to thrive, Periventricular heterotopia	OMIM:608097
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
Pontocerebellar Hypoplasia, Type 3	Short stature, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Brachycephal...	OMIM:608027
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Camptodactyly of finger, Conge...	ORPHA:1488
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac...	OMIM:218000
Baraitser-Winter Syndrome 2	Abnormal pinna morphology, Short stature, Pachygyria, Lissencephaly, Trigonocephaly, Microphthalm...	OMIM:614583
Recombinant Chromosome 8 Syndrome	Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Brachycephaly, Growth delay...	OMIM:179613
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Focal polymicrogyria, Partial agenesis of the corpus callosum, Subcortical band heterotopia, Hypo...	OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Pachygyr...	OMIM:614643
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Lissencephaly, Microphthalmia, A...	OMIM:218670
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalan...	OMIM:300863
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Abnormal calvaria morphology, Abnormality of the fontanelles or cranial sutures, ...	ORPHA:2432
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Dysplastic corpus callosum, Brachycephaly, Microtia, ...	OMIM:616854
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Tapered finger, Conductive hearing impairment, Sensorineural hearing impai...	OMIM:618672
Baraitser-Winter Syndrome 1	Short stature, Postnatal growth retardation, Pachygyria, Duplication of phalanx of hallux, Sensor...	OMIM:243310
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Gray matter heterotopia, Lateral vent...	OMIM:600348
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Brach...	ORPHA:93950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Short stature, Facial palsy, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, ...	OMIM:608840
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Micr...	OMIM:214150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Micrognathia, Postnatal growth retardation, Brachycephaly, Low-set ears,...	OMIM:615419
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Inguinal hernia, Congenital hip dislocation, Bowing of the long bone...	OMIM:612940
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Lissencep...	OMIM:614833
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Brachycephaly, Low-set ears, Microphthalmia, Coronal craniosynost...	ORPHA:228390
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Short stature, Micrognathia, Brachycephaly, Growth delay, J...	ORPHA:251019
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Inguinal hernia, Brachycephaly, Plagiocephaly, Failure to thrive, Agenes...	OMIM:618603
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Sensorineural hearing impair...	ORPHA:2377
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Small for gestational age, Posteriorly rotated ears, Craniosynosto...	OMIM:613174
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Low-set, posteriorly rotated e...	ORPHA:35107
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Brachycephaly, Knee flexion contracture, Wrist flexion contracture, Ara...	OMIM:121050
Muenke Syndrome	Tarsal synostosis, Sensorineural hearing impairment, Hydrocephalus, Brachycephaly, Cone-shaped ep...	ORPHA:53271
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Parietal foramina, Brachycephaly, Wormian bones, B...	OMIM:601224
Marden-Walker Syndrome	Inguinal hernia, Decreased muscle mass, Arachnodactyly, Micrognathia, Postnatal growth retardatio...	OMIM:248700
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Short stature, M...	ORPHA:1387
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pa...	OMIM:601390
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Protruding ear, Neonatal death, L...	OMIM:259775
Dysostosis, Stanescu Type	Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Abnormal dent...	ORPHA:1798
Crouzon Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Multiple ...	ORPHA:207
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Micrognathia, Abnormally large globe, Brachycephaly, Protruding ear, Sh...	OMIM:249420
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, Finger joint hypermo...	OMIM:212720
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Craniosynostosis, Split hand, Lobar holoprosenc...	ORPHA:2117
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Coxa valga, Cari...	OMIM:269300
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia, Failure to thrive, Agenesis of corpus callosum	OMIM:274270
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Metatarsus adduc...	OMIM:612513
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Posteriorly rotated ears, Short stature, Wide anterior fontanel, Brachy...	OMIM:239710
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Micromelia, Joint stiffness, Hearing impairment, Abnormal sacr...	ORPHA:2655
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Monosomy 18P	Short stature, Micrognathia, Carious teeth, Brachycephaly, Protruding ear, Abnormal antihelix mor...	ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Postnatal growth retardation, Brachycephaly	OMIM:309545
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor...	ORPHA:950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Short stature, Bilateral microphthalmos, Brachycephaly, Plagio...	ORPHA:369891
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Small for gestational age, Short stature, Fif...	ORPHA:3369
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Prominent metopic ridge, Posteriorly rotated ears, Dysplastic corpus callo...	OMIM:620001
Adams-Oliver Syndrome 2	Micrognathia, Hydrocephalus, Protruding ear, Lateral ventricle dilatation, Absent distal phalange...	OMIM:614219
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con...	OMIM:617201
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Brachycephaly, Short stature	OMIM:300699
Potocki-Shaffer syndrome	Parietal foramina, Delayed cranial suture closure	DECIPHER:34
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Frontal bossing, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of fin...	ORPHA:2787
Temtamy Syndrome	Brachydactyly, Micrognathia, Short toe, Joint hyperflexibility, Low-set ears, Dolichocephaly, Cli...	ORPHA:1777
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar...	OMIM:619135
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Small for gestational age, Rocker bottom foot, Trigonocephaly, Intrauter...	OMIM:618804
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ...	OMIM:618914
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Hydrocephalus, Large earlobe, Polydactyly, Hernia, Microphthalmia, Poly...	OMIM:602501
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morphology, Gray matter he...	ORPHA:300573
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Trigonocephaly, Supernume...	OMIM:604757
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal cho...	ORPHA:163966
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Frontal bossing, Short stature, Metaphyseal wideni...	ORPHA:2788
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Conductive hearing impa...	OMIM:218600
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple pre...	OMIM:259420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Hyp...	OMIM:615249
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Finger clinodactyly, Absent distal interphalangeal creases, Agen...	ORPHA:1692
Microcephaly-Micromelia Syndrome	Micromelia, Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, ...	ORPHA:776
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly...	OMIM:614416
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, A...	ORPHA:2211
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, ...	ORPHA:370959
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Micromelia, Joint stiff...	ORPHA:1860
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Abnormal ...	ORPHA:93262
Walker-Warburg Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Pos...	ORPHA:899
Clark-Baraitser Syndrome	Sandal gap, Obesity, Brachycephaly, Large earlobe, Low-set ears, Dolichocephaly, Clinodactyly	OMIM:617752
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o...	ORPHA:83
Warburg Micro Syndrome 3	Decreased muscle mass, Micrognathia, Postnatal growth retardation, Flexion contracture, Brachycep...	OMIM:614222
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Condu...	OMIM:182212
Acalvaria	Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormality of neuronal mig...	ORPHA:945
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Knee flexion contracture, Gray matter heterotopia, Camptoda...	OMIM:619694
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Posteriorly rotated ears, Rocke...	OMIM:301041
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Frontal bossing, Posteriorly rotated ears, Rocker bottom foot, Sensorine...	OMIM:612582
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplasia ...	OMIM:619512
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Abnormal pinna morphology, Tapered finger, Obesity, Brachycephaly, Large fleshy ears, Clinodactyl...	ORPHA:352530
Lethal Osteosclerotic Bone Dysplasia	Posteriorly rotated ears, Micrognathia, Large fontanelles, Low-set ears, Mandibular aplasia, Intr...	ORPHA:1832
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Sweeney-Cox Syndrome	2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Flat occiput, Up...	OMIM:617746
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Cli...	ORPHA:794
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly, Bilateral sensorineural hearing impairment, Low-set ears	OMIM:264470
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Cloverleaf skull, Short stature, Micromelia, Hearing impairment, ...	ORPHA:93274
Linear Skin Defects With Multiple Congenital Anomalies 2	Posteriorly rotated ears, Sandal gap, Congenital diaphragmatic hernia, Short stature, Microphthal...	OMIM:300887
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Potocki-Shaffer Syndrome	Micrognathia, Parietal foramina, Brachycephaly, Delayed puberty, Decreased skull ossification	ORPHA:52022
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Clinodactyly of the 2nd toe, Micrognathia, Coxa valga, Short distal phalanx of the ...	OMIM:620073
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short...	OMIM:200610
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, ...	ORPHA:166277
Autosomal Recessive Cutis Laxa Type 2A	Frontal bossing, Persistent open anterior fontanelle, Congenital hip dislocation, Inguinal hernia...	ORPHA:357058
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f...	ORPHA:3103
Lissencephaly 6 With Microcephaly	Tapered finger, Pachygyria, Periventricular heterotopia, Partial agenesis of the corpus callosum,...	OMIM:616212
Moebius Syndrome	Syndactyly, Brachydactyly, Abnormal pinna morphology, Micrognathia, Clinodactyly, Split hand, Mic...	OMIM:157900
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Sensorineural hearing impair...	OMIM:600430
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Short stature, Tapered finger, Premature anterior fontanel closure, ...	OMIM:619435
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Posteriorly rotated ears, Short stature, Micrognathia, Coxa valga, Periventricular heterotopia, H...	OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Hydrocephalus, Flexion contracture, Macroglossia, Hypoplasia of the brainstem, Calf...	OMIM:613155
Joubert Syndrome 37	Frontal bossing, Prominent metopic ridge, Posteriorly rotated ears, Short stature, Postaxial poly...	OMIM:619185
Al Kaissi Syndrome	Torticollis, Posteriorly rotated ears, Abnormal pinna morphology, Short stature, Postnatal growth...	OMIM:617694
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Small for gestational age, Iliac crest serration, Micromelia, Short stature, Wid...	OMIM:613320
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Frontal bossing, Short stature, Recurrent fr...	OMIM:616294
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl...	OMIM:615546
Lissencephaly 8	Occipital encephalocele, Skeletal muscle atrophy, Hypoplasia of the brainstem, Talipes equinovaru...	OMIM:617255
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Gray matter heterotopia, Microph...	OMIM:164180
Temtamy Syndrome	Frontal bossing, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equin...	OMIM:218340
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement...	ORPHA:435638
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Short stature, Micrognathia, Brachycephaly, Spina bifida occulta	ORPHA:1514
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd...	OMIM:123500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, Micrognathia, Ost...	ORPHA:48431
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short stature, Large for gestation...	ORPHA:2563
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Lateral ventricle dilatation, Talipes equinovarus	OMIM:619972
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Biemond Syndrome Type 2	Short stature, Hydrocephalus, Preaxial polydactyly, Obesity, Delayed puberty, Microphthalmia	ORPHA:141333
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Hallermann-Streiff Syndrome	Micrognathia, Metaphyseal widening, Brachycephaly, Parietal bossing, Spina bifida, Supernumerary ...	OMIM:234100
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, 2-3 toe syndactyly, Brachycephaly, Growth del...	ORPHA:3306
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce...	OMIM:619795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Muscular dystrophy, Type II lissencephaly	OMIM:614830
Intellectual Developmental Disorder, Autosomal Dominant 23	Sandal gap, Postaxial polydactyly, Micrognathia, Brachycephaly, Low-set ears, Broad distal phalan...	OMIM:615761
Coffin-Siris Syndrome 6	Frontal bossing, Posteriorly rotated ears, Short stature, Micrognathia, Conductive hearing impair...	OMIM:617808
Thanatophoric Dysplasia, Type I	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy...	OMIM:187600
Ring Chromosome 10 Syndrome	Frontal bossing, Sandal gap, Cachexia, Tapered finger, Micrognathia, Abnormal antihelix morpholog...	ORPHA:1438
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Short stature, Wide anterior fontanel, Sensorineural hearing i...	ORPHA:44
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Agenesis of co...	OMIM:605039
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasi...	ORPHA:468631
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, Short palm, Abnormal bone...	ORPHA:175
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Muscu...	OMIM:615181
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Posteriorly rotated ears, Left ventricular hypertrophy...	OMIM:300280
Warburg Micro Syndrome 2	Overlapping toe, Asymmetry of the ears, Postnatal growth retardation, Flexion contracture, Brachy...	OMIM:614225
Autosomal Recessive Primary Microcephaly	Short stature, Pachygyria, Growth delay, Gray matter heterotopia, Abnormal cortical bone morpholo...	ORPHA:2512
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur...	OMIM:614856
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Short ...	ORPHA:2050
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Brachyce...	ORPHA:2962
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Abnormality of neur...	ORPHA:2204
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Holoprosencephaly, Cli...	ORPHA:2163
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Micromelia, Micrognathia, Flexion contracture, Pterygium, Pa...	ORPHA:2671
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hern...	ORPHA:2063
German Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Brachycephaly...	ORPHA:2077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Sandal gap, Posteriorly rotated ears, Overweight, Carious teeth, Small...	OMIM:619229
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Short stature, Craniosynostosis, Brachycephaly, Low-set ears, Macrotia	ORPHA:314575
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Overlapping toe, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Cuta...	OMIM:617822
Bresek Syndrome	Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Protruding ear, Growth delay, ...	ORPHA:85284
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
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Short stature, Micrognathia, Hydrocephalus, Brachycephaly, Overfolded ...	OMIM:609757
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Brachycephaly, Femoral bowing, Conductive hearing impairment, Abnormality of...	ORPHA:95699
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph...	OMIM:156400
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog...	ORPHA:96264
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Carious teeth, Hydrocep...	ORPHA:377
Menkes Disease	Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly...	OMIM:309400
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Brachycephaly, Knee flexion contracture, Generalized amyotrophy, Sho...	OMIM:613776
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis...	ORPHA:970
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Short stature, Micrognathia, Flexion contracture, Calcaneovalgus deformity, Adduc...	ORPHA:562528
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, External ear malformation, Con...	ORPHA:254346
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Large posterior fontanelle, Natal tooth, Frontal bossing, Abnormal pinna morphology, Postaxial po...	OMIM:617925
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Tibial bowing, Short pal...	OMIM:601812
Smith-Magenis Syndrome	Mandibular prognathia, Short stature, Hearing impairment, Increased body weight, Brachycephaly, S...	OMIM:182290
Opitz-Kaveggia Syndrome	Multiple joint contractures, Micrognathia, Partial agenesis of the corpus callosum, Prominent fin...	OMIM:305450
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Anophthalmia, S...	ORPHA:264200
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of the 3rd fi...	OMIM:101400
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Genu recurvatum, Short stature, Malar flattening, Uplifted e...	ORPHA:364028
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Sandal gap, Posteriorly rotated ears, Tapered finger, Obesity, Brachycephaly, Pl...	OMIM:618430
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Brachycephaly,...	OMIM:610968
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Inguinal hernia, Brachycephaly, Growth delay, Lateral ventricle dilatation	ORPHA:85290
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Dys...	ORPHA:352682
Heart And Brain Malformation Syndrome	Attached earlobe, Prominent metopic ridge, Posteriorly rotated ears, Camptodactyly of finger, Wid...	OMIM:616920
Trisomy 20P	Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Frontal bossing, Camptodac...	ORPHA:261318
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, Short stature, 2-3 toe syndactyly, Coxa vara, Brachycephaly, Lobar ...	OMIM:614701
Smith-Magenis Syndrome	Mandibular prognathia, Frontal bossing, Toe syndactyly, Failure to thrive in infancy, Short statu...	ORPHA:819
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra...	ORPHA:666
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypo...	OMIM:607597
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Posteriorly rotated ears, Optic nerve hypoplasia, Congenital...	OMIM:616364
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Micrognathia, Flexion contracture, Brachycephaly, Muscle fiber atrophy, Failure to thrive	OMIM:620240
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Short stature, Uplifted earlobe, Large for gestational age, Tapered...	ORPHA:261652
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear...	OMIM:311300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormality of neuronal migra...	ORPHA:2772
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ...	ORPHA:1553
Stevenson-Carey Syndrome	Posteriorly rotated ears, Brachycephaly, Hip dysplasia, Low-set ears, Camptodactyly, Microphthalm...	OMIM:611961
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangi...	ORPHA:2547
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Hy...	OMIM:615191
Mmep Syndrome	Mandibular prognathia, Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Hypocalcemic Vitamin D-Dependent Rickets	Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowin...	ORPHA:289157
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Brachycephaly, Clinodactyly of the 5th finger, Prominent metopic...	ORPHA:1272
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Foot joint contracture, Ulnar deviation of the 3rd finger, Proximal p...	ORPHA:456312
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Inguinal hernia, Sandal gap, Camptodactyly of finger, Optic nerve hypopl...	ORPHA:261349
Ritscher-Schinzel Syndrome 1	Syndactyly, Micrognathia, Hydrocephalus, Brachycephaly, Prominent occiput, Low-set ears, Intraute...	OMIM:220210
Vitamin D-Dependent Rickets, Type 2A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Frontal bossing, Sandal gap, Short stature, Micrognathia, Postnatal growth...	OMIM:156200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno...	OMIM:614188
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Posteriorly rotated ears, Multiple prenatal fractures, Brachycephaly, Plag...	OMIM:618644
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Bowing of the long bones, Shor...	ORPHA:2484
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac...	OMIM:601707
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Frontal bossing, Abnormal dental enamel morphology, Tarsal synostosis...	ORPHA:85199
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, P...	OMIM:605627
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Brachycephaly, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, ...	OMIM:619995
Galloway-Mowat Syndrome	Short stature, Camptodactyly of finger, Hiatus hernia, Micrognathia, Aqueductal stenosis, Pachygy...	ORPHA:2065
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Microphthalmia, Congenital muscular dystrophy, Type II li...	ORPHA:324416
Fetal Trimethadione Syndrome	Micrognathia, Brachycephaly, Abnormal helix morphology, Low-set ears, Intrauterine growth retarda...	ORPHA:1913
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Vulto-Van Silfhout-De Vries Syndrome	Joint laxity, Mandibular prognathia, Frontal bossing, 2-3 toe cutaneous syndactyly, Brachycephaly...	OMIM:615828
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:1980
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Posteriorly rotated ears, Short stature, Proximal placement of...	OMIM:212066
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short stature, Metaphyseal widening, Flexion contracture, Coxa vara, Fla...	OMIM:300232
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Posteriorly rotated ears, Short stature, Micrognathia, Postnatal growt...	OMIM:257300
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Parietal fo...	OMIM:603671
Desanto-Shinawi Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Sensorineural hearing impairment, Brachyceph...	OMIM:616708
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac...	OMIM:610967
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Failure to thrive in ...	ORPHA:1225
Warburg Micro Syndrome 4	Decreased muscle mass, Short stature, Flexion contracture, Perisylvian polymicrogyria, Brachyceph...	OMIM:615663
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla...	OMIM:620099
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Failure to thrive, Short stature, Brachycephaly	OMIM:309541
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Prominent metopic ridge, Inguinal hernia, Trigonocephaly, Brac...	ORPHA:363659
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Wide cranial sutures, Inguinal hernia, Short femur, Recurrent fractu...	OMIM:618188
Craniofrontonasal Syndrome	Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital d...	OMIM:304110
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the abdominal wall musculature, Brachycephaly,...	OMIM:612289
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Narrow greater sciatic notch, Molar tooth sign on MRI, Short tibia, Unicoro...	OMIM:616300
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly, Hypomimic face	ORPHA:320385
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Failure to thrive ...	ORPHA:356961
Symmetrical Thalamic Calcifications	Failure to thrive, Abnormality of neuronal migration	ORPHA:1314
2Q23.1 Microdeletion Syndrome	Sandal gap, Short stature, Brachycephaly, Growth delay, Hip dysplasia, Short palm, Clinodactyly o...	ORPHA:228402
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Omphalocele, Sclerotic cranial sutures, Abnormal hand morphology, Osteol...	ORPHA:371428
Microphthalmia, Syndromic 12	Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Neonatal death, Microphthalmia, Retr...	OMIM:615524
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydac...	ORPHA:2189
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ...	ORPHA:2249
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Enlargement of the ankles, Bulging epiphyses, Flat occiput, Recurrent fractures,...	OMIM:600081
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Sensorineural hearing impairment, Abnormality of the fo...	ORPHA:3378
Silver-Russell Syndrome 3	Syndactyly, Frontal bossing, Small for gestational age, Elbow contracture, Short stature, Postnat...	OMIM:616489
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Sensorineural hearing impairment, ...	OMIM:603116
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Short stature, Brachycephaly, Malar flattening, Spina bifida occulta, Abno...	OMIM:268850
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Frontal bossing, Increased bone mineral density, Posteriorly rotated ears, Short stature, Microgn...	OMIM:617306
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Brachydactyly, Short stature, Microphthalmia, Clinodactyly, Hearing impairment	OMIM:610023
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Micrognathia, Ulnar deviation of the hand or of fingers of the hand, Wide anterior ...	OMIM:214100
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ...	ORPHA:93324
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly, Hypomimic face	OMIM:615031
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Fused...	OMIM:609053
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Brachycephaly, Low-set ears, Microphthalmia, Polymicrogyria	OMIM:612379
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Talipes equinovarus, Low-set ears, C...	OMIM:616789
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Growth dela...	OMIM:610756
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia, Thickened helices, Brachycephaly, Simplified gyral pattern, Clinodactyly ...	OMIM:618828
Hamamy Syndrome	Osteopenia, Syndactyly, Inguinal hernia, Long toe, Recurrent fractures, Craniosynostosis, Microgn...	OMIM:611174
Monosomy 9P	Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Abnormality of the ta...	ORPHA:261112
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped e...	ORPHA:2399
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Flat occiput, Micrognathia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Co...	ORPHA:300570
Kury-Isidor Syndrome	Finger syndactyly, Frontal bossing, Rocker bottom foot, Proximal placement of thumb, Brachycephal...	OMIM:619762
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Congenital hip dislocation, In...	OMIM:614450
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Communicating hydrocephalus, Short stature, Recurrent fractures, Mic...	OMIM:112240
Hemimegalencephaly	Cranial asymmetry, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Inguinal hernia, Decreased muscle mass, Failure to thrive in...	OMIM:615582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Agyria, Hydrocephalus, Flexion contracture, Calf muscle h...	OMIM:253800
3C Syndrome	Finger syndactyly, Inguinal hernia, Frontal bossing, Short stature, Micrognathia, Postnatal growt...	ORPHA:7
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Facial hypotonia, 2-3 toe cutaneous syndactyly, Brachycephaly, Short foot, Low-set ears, Decrease...	OMIM:300260
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Frontal bossing, Toe syndactyly, Posteriorly rotated ears, Short stature, Delayed closure of the ...	OMIM:610759
Xq28 (MECP2) duplication	Malar flattening, Macrotia, Failure to thrive, Brachycephaly	DECIPHER:45
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Joint dislocation, Frontal bossing, Short stature, Monkey wrench...	OMIM:618870
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Short stature, Camptodactyly of finger, Micrognathia, Low-set ears, Wo...	ORPHA:2863
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Brachycephaly, Abnormal epiphysis morphology,...	ORPHA:1784
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal occipital bone morphology, Ab...	ORPHA:3472
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed e...	ORPHA:2409
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h...	ORPHA:2658
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Facial hypotonia, Hearing impairment, Tapered finger, Micrognathia, ...	OMIM:618659
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Hearing impairment, Persistence of...	OMIM:610253
Kapur-Toriello Syndrome	Posteriorly rotated ears, Pachygyria, Dysplastic corpus callosum, Atresia of the external auditor...	ORPHA:2328
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodacty...	OMIM:274000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:264700
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Small for gestational...	OMIM:616229
Seckel Syndrome 1	Abnormal finger flexion crease, Micrognathia, Abnormally large globe, Clinodactyly of the 5th fin...	OMIM:210600
X-Linked Dominant Chondrodysplasia Punctata	Frontal bossing, Abnormally ossified vertebrae, Abnormal pinna morphology, Short stature, Scarrin...	ORPHA:35173
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Short stature, Frontal bossing, Sensorineu...	ORPHA:250989
6Q Terminal Deletion Syndrome	Joint laxity, Hallux valgus, Prominent metopic ridge, Low-set, posteriorly rotated ears, Microgna...	ORPHA:75857
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Dislocated radial he...	ORPHA:2839
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Simplified gyral pattern, Low-set, ...	ORPHA:96121
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Genu recurvatum, Sandal gap, Micrognathia, Partial agenesis of the c...	OMIM:619775
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Agenesis o...	ORPHA:2538
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Prominent metopic ridge, Short stature, Brachycephaly, Plagiocephaly	OMIM:618862
Alg9-Cdg	Micrognathia, Brachycephaly, Large fleshy ears, Narrow greater sciatic notch, Abnormal bone ossif...	ORPHA:79328
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Joubert Syndrome 2	Encephalocele, Frontal bossing, Brainstem dysplasia, Dolichocephaly, Postaxial hand polydactyly, ...	OMIM:608091
9P13 Microdeletion Syndrome	Microretrognathia, Short stature, Joint stiffness, Abnormality of cartilage of external ear, Brac...	ORPHA:324313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Hydr...	OMIM:236670
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Abnormality of joint mobility, Abnormal midbrain morphology, Supern...	ORPHA:314621
Turnpenny-Fry Syndrome	Mandibular prognathia, Brachycephaly, Prominent interphalangeal joints, Conductive hearing impair...	OMIM:618371
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o...	OMIM:119600
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Increased body mass index, Small for gestational age, Short stature, Sensorineural ...	OMIM:300957
Acromelic Frontonasal Dysplasia	Encephalocele, Midline central nervous system lipomas, Meningocele, Large fontanelles, Brachyceph...	ORPHA:1827
Congenital Toxoplasmosis	Failure to thrive in infancy, Hearing impairment, Hydrocephalus, Microphthalmia, Intrauterine gro...	ORPHA:858
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Hip dislocation, Brachycephaly, Low-set ears, Failure to thrive	OMIM:608776
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Plagiocephaly, Slender long bone, Decreased calvar...	OMIM:618265
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Short stature, Hiatus hernia, Micrognathia, Pachygyria, Hip disl...	OMIM:617729
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Tetrasomy 5P	Pericallosal lipoma, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Postn...	ORPHA:3309
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Short stature, Thickened helices, Limitation of...	ORPHA:261494
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Cupped ear, Low-set ears, Dolichocephaly, Clinodac...	OMIM:167730
Alagille Syndrome	Hypoplasia of the ulna, Frontal bossing, Micrognathia, Spina bifida occulta, Brachycephaly, Protr...	ORPHA:52
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Hydrocephalus, Flexion contracture, Small hand, Brachycephaly, Short f...	ORPHA:500055
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Conductive hearing impairment, Molar tooth sign on MRI, Agenesis of ...	OMIM:277170
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Broad hallux, Periventricular heterotopia, Lateral ventricle dilatation, Microph...	OMIM:614105
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:314679
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Flat occiput, Femoral hernia, Obesity, Brachycephaly, Growth delay, Macroglossia...	ORPHA:96147
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Hypoplasia of the brainstem, Abnormal calvaria morphology, Decreased...	ORPHA:255138
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, 2-3 toe syndactyly, Brachycephaly, Postaxial foot polydactyl...	ORPHA:404440
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Obesity, Plagiocephaly, ...	OMIM:617296
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, Obesity, Microph...	ORPHA:3191
Gorlin-Chaudhry-Moss Syndrome	Short stature, Hypoplasia of the maxilla, Brachycephaly, Abnormal metacarpal morphology, Conducti...	ORPHA:2095
Chopra-Amiel-Gordon Syndrome	Short stature, Postnatal growth retardation, Brachycephaly, Midface retrusion, Joint hypermobility	OMIM:619504
Mend Syndrome	Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Short stature, ...	ORPHA:401973
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Micrognathia, Flexion contracture, Calcinosis, Hypoplasia of teeth, Short clavicles, ...	OMIM:248370
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Platybasia, Decreased calvarial ossification, Stillbirth, Disproport...	OMIM:259410
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia, Small for gestational age	OMIM:278780
Trisomy 18	Congenital diaphragmatic hernia, Abnormality of the fontanelles or cranial sutures, Pointed helix...	ORPHA:3380
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepip...	ORPHA:192
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Abnor...	ORPHA:66625
Marshall-Smith Syndrome	Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Prominent fingerti...	OMIM:602535
8Q12 Microduplication Syndrome	Short foot, Sensorineural hearing impairment, Brachycephaly	ORPHA:228399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li...	OMIM:601356
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Brachycephaly, Ankle...	OMIM:615398
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica...	OMIM:259440
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Inguinal hernia, Short stature, Brachycephaly, Symphalangism affecting the phala...	ORPHA:1292
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Wormian bones, Short metacarpal, Recurrent fractures, ...	OMIM:610915
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Brachycephaly, Generalized amyotrophy, Small earlobe, Parietal...	OMIM:264090
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Inguinal hernia, Short stature, Metatarsus adductus, Conductive hearing imp...	OMIM:611962
Alpha-Mannosidosis, Infantile Form	Osteopenia, Mandibular prognathia, Communicating hydrocephalus, Brachycephaly, Cortical thickenin...	ORPHA:309282
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Simplified gyral pattern, Brachycephaly, Lateral ventricle dilatation, Low-set ears, Agenesis of ...	OMIM:619244
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Frontal bossing, Short stat...	ORPHA:2754
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Finger synda...	ORPHA:251014
Bardet-Biedl Syndrome 8	Brachycephaly, Obesity, Postaxial polydactyly	OMIM:615985
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Parietal bossing, Abnor...	OMIM:224300
Pycnodysostosis	Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Short statu...	OMIM:265800
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Bilateral microphthalmos, Lateral ventricle dilatation, Atrophy/Degener...	ORPHA:77299
Carpenter Syndrome 2	Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion contracture, Protruding ear, Cutaneo...	OMIM:614976
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Frontal bossing, 2-3 toe cutaneous syndactyly, Broad thumb	OMIM:617364
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Facial hypotonia, Brachycephaly, Protruding ear, Hip dysplasia, Joint hyp...	OMIM:618798
Galloway-Mowat Syndrome 1	Midface retrusion, Flat occiput, Small for gestational age, Short stature, Micrognathia, Hiatus h...	OMIM:251300
Lessel-Kreienkamp Syndrome	Frontal bossing, Wide cranial sutures, Scaphocephaly, Dental malocclusion, Plagiocephaly, Clinoda...	OMIM:619149
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Increased variability in muscle fiber diameter, Buphthalmos, Skelet...	OMIM:613150
Distal Deletion 12Q	Micrognathia, Brachycephaly, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodac...	ORPHA:96149
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Frontal bossing, Posteriorly rotated ears, Sensorineural hearing imp...	OMIM:615219
Cat-Eye Syndrome	Short stature, Hearing impairment, Hip dysplasia, Microphthalmia, Intrauterine growth retardation	ORPHA:195
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Postnatal growth ...	OMIM:241410
Joubert Syndrome 14	Encephalocele, Posteriorly rotated ears, Postaxial polydactyly, Hydrocephalus, Meningocele, Growt...	OMIM:614424
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Postnatal growth r...	OMIM:302960
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Molar tooth sign on M...	OMIM:615665
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Mohr Syndrome	Short palm, Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand pol...	OMIM:252100
Chromosome 1Q41-Q42 Deletion Syndrome	Frontal bossing, Sandal gap, Short stature, Congenital diaphragmatic hernia, 3-4 finger cutaneous...	OMIM:612530
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Short stature, Proximal placement of thumb, Postnatal growth r...	OMIM:616263
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Wide ant...	OMIM:614886
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Knee ...	OMIM:609220
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Decreased muscle mass, Posteriorly rotated ears, Short stature...	OMIM:130720
Weill-Marchesani Syndrome 2	Short metacarpal, Short stature, Thickened helices, Proportionate short stature, Joint stiffness,...	OMIM:608328
Marshall Syndrome	Frontal bossing, Short stature, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplas...	ORPHA:560
Frontonasal Dysplasia 2	Encephalocele, Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Low-se...	OMIM:613451
Frontonasal Dysplasia 3	Microphthalmia, Posteriorly rotated ears, Brachycephaly, Low-set ears	OMIM:613456
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteosclerosis, Osteopathia s...	OMIM:300373
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short...	OMIM:611717
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach...	ORPHA:193
Man1B1-Cdg	Frontal bossing, Flat occiput, Periventricular heterotopia, 2-3 toe syndactyly, Truncal obesity, ...	ORPHA:397941
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Omphalocele, Inguinal hernia, Frontal bossing, Posteriorly rotated ear...	OMIM:247200
Down Syndrome	Joint laxity, Sandal gap, Conductive hearing impairment, Obesity, Abnormality of the fontanelles ...	ORPHA:870
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Short stature, Facial hypotonia, Osteoporosis, Disproportionate s...	ORPHA:85194
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Holoprosencephaly 9	Anophthalmia, Short stature, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal corti...	OMIM:610829
Ayme-Gripp Syndrome	Mandibular prognathia, Posteriorly rotated ears, Short stature, Hearing impairment, Tapered finge...	OMIM:601088
Cree Mental Retardation Syndrome	Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Large fontanelles, Brachycephaly, Cut...	OMIM:606851
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,...	OMIM:608612
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Abnormal p...	OMIM:309583
Frontofacionasal Dysplasia	Encephalocele, Short stature, Brachycephaly, Limbal dermoid, Microphthalmia, Midface retrusion	ORPHA:1791
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Rieger anomaly, Tapered finger, Long fingers, Cal...	ORPHA:521445
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Tali...	ORPHA:2771
Congenital Rubella Syndrome	Short stature, Sensorineural hearing impairment, Abnormality of the fontanelles or cranial suture...	ORPHA:290
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Posteriorly rotated ears, Short stature, Postaxial polydactyly, Tapered finger, Abn...	OMIM:300968
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Decreased skull ossification, Slender long bone,...	OMIM:602361
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, ...	OMIM:227330
Radio-Tartaglia Syndrome	Frontal bossing, Hearing impairment, Tapered finger, Micrognathia, Obesity, Large earlobe, Gray m...	OMIM:619312
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Large fontanelles, Obesity, Aniridia, Biparietal na...	ORPHA:251038
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Underfolded helix, Dental malocclusion, Obesity, Brac...	OMIM:157980
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Low-set e...	OMIM:613885
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93260
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, ...	OMIM:611134
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Brachycephaly	ORPHA:70472
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth retardation, Br...	OMIM:614800
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, L...	ORPHA:1236
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Decreased muscle mass, Failure to thrive in infancy, Sandal ga...	ORPHA:813
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th...	ORPHA:306542
3-Hydroxyisobutyric Aciduria	Failure to thrive, Abnormality of neuronal migration	OMIM:236795
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Pachygyria, Short stature, Simplified gyral pattern	OMIM:251270
Nanophthalmos	Microphthalmia	ORPHA:35612
16P13.11 Microdeletion Syndrome	Short stature, Camptodactyly of finger, Sensorineural hearing impairment, Abnormality of neuronal...	ORPHA:261236
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Conductive hearing impairment, Thickened helices, Clinodactyly of the 5th finger, ...	OMIM:607872
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Protruding ear, Talipes ...	OMIM:616603
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Arachnodactyly, Micrognathia, Retrognathia, Brachycephaly, Growth delay, Failure to...	ORPHA:2707
Seckel Syndrome 2	Small for gestational age, Short stature, Micrognathia, Growth delay, Clinodactyly of the 5th fin...	OMIM:606744
Trisomy 9P	Brachycephaly, Protruding ear, Impacted tooth, Clinodactyly of the 5th finger, Macrotia, Brachyda...	ORPHA:236
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral fusion, Short...	OMIM:139210
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion...	OMIM:268300
Holoprosencephaly 7	Omphalocele, Frontal bossing, Flat occiput, Occipital meningocele, Hypoplasia of the premaxilla, ...	OMIM:610828
Adnp Syndrome	Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Short stature, Trigonocephaly, Abnormal ...	ORPHA:404448
Silver-Russell Syndrome 1	Syndactyly, Frontal bossing, Small for gestational age, Micrognathia, Short distal phalanx of the...	OMIM:180860
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing...	OMIM:223800
Treacher-Collins Syndrome	Encephalocele, Frontal bossing, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of th...	ORPHA:861
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Small for gestational age, Overlapping toe, Craniosynostosis, Micrognath...	OMIM:309590
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Large for gestational age, Micrognathia, Hypoplasia of the maxilla, Flexio...	ORPHA:96334
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin...	ORPHA:235
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Hearing ...	OMIM:618150
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Micrognathia, Cupped ear, Brachycephaly, Shortening of all distal phalange...	ORPHA:247262
19P13.13 Microdeletion Syndrome	Sandal gap, Optic nerve hypoplasia, Long fingers, Brachycephaly, Macroglossia, Low-set ears, Doli...	ORPHA:357001
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Inguinal hernia, Overlapping toe, Post...	OMIM:213980
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Abnormality of neuronal migratio...	ORPHA:2318
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Frontal bossing, 2-3 toe syndactyly, Protruding ear, Joint contracture of the 5th f...	OMIM:620098
Six2-Related Frontonasal Dysplasia	Frontal bossing, Absent/hypoplastic paranasal sinuses, Small for gestational age, Posteriorly rot...	ORPHA:488437
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Posteriorly rotated ears, Hip dysplasia, Low-set ears, Prominent fingertip pads,...	OMIM:618494
Congenital Disorder Of Glycosylation, Type Iit	Sandal gap, Posteriorly rotated ears, Short stature, Small hand, Brachycephaly, Short foot, Low-s...	OMIM:618885
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Brachycephaly, Plagiocephaly, Low-set ears, Toe clinodactyly, Clinodactyly of the...	OMIM:619910
Pseudotrisomy 13 Syndrome	Omphalocele, Encephalocele, Posteriorly rotated ears, Postaxial hand polydactyly, Hydrocephalus, ...	OMIM:264480
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Tapered finger, Brachycephaly, ...	OMIM:601353
Microphthalmia, Syndromic 13	Anteverted ears, Microphthalmia, Short stature	OMIM:300915
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Squa...	OMIM:133540
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Postnatal growth retardation, H...	ORPHA:494344
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Micrognathia, Long fingers, Brachycephaly, Low-set ears, Microphthalmia...	OMIM:156610
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Micromelia, Proximal placement of thumb, Brachycep...	OMIM:122470
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Hearing impairment, Decreased body weight	OMIM:300958
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Inguinal hernia, Overlapping toe, Microphthalmia, Devia...	ORPHA:464738
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Absent pubertal growth spurt, Metaphyseal widening, Brachyce...	OMIM:250250
White-Sutton Syndrome	Joint laxity, Ventral hernia, Inguinal hernia, Posteriorly rotated ears, Short stature, Congenita...	ORPHA:468678
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd...	OMIM:619879
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Lipoatrophy, Short stature, Limited elbow movement, Join...	OMIM:614008
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Low-set,...	ORPHA:800
Jacobsen Syndrome	Flat occiput, Trigonocephaly, Micrognathia, Hydrocephalus, Flexion contracture, Nasolacrimal duct...	OMIM:147791
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Partial agenesis of the corpus call...	ORPHA:50
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Microphthalmia, Clinodactyly, Retrognathia, Hearing impai...	OMIM:619981
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Inguinal hernia, Overlapping toe, Micrognathia, Anteverted ears, Microphthalmia,...	OMIM:613884
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Growth delay	OMIM:614082
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Hernia, Decreased skull ossification, Partial a...	ORPHA:955
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Short stature, Congenital diaphragmatic hernia, Micrognathia, ...	ORPHA:1915
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Finger syndactyly, Abnormal dent...	ORPHA:2092
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Anotia, Microtia, Foot polydactyly,...	ORPHA:268249
Vacterl With Hydrocephalus	Inguinal hernia, Microtia, third degree, Femoral hernia, Anophthalmia, Spina bifida, Micrognathia...	ORPHA:3412
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Short stature, Delayed eruption of primary t...	OMIM:619322
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Tapered toe, Posteriorly rotated ears, Tapered finger, Long fingers, Elbow flexion cont...	OMIM:608836
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Overlapping toe, Hip dislocation, Brachycephaly, Short foot, Plagiocephaly, Fibular...	OMIM:618268
Hallermann-Streiff Syndrome	Natal tooth, Frontal bossing, Recurrent fractures, Proportionate short stature, Micrognathia, Sup...	ORPHA:2108
Kapur-Toriello Syndrome	Camptodactyly of finger, Pachygyria, Short thumb, Low-set ears, Conductive hearing impairment, Ov...	OMIM:244300
Weill-Marchesani Syndrome 1	Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of the ...	OMIM:277600
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Simplified gyral pattern, Microlissencephaly, Microphthalm...	OMIM:617914
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short stature, Perisylvian polymicrogyria, Flared metaphysis, Advanced ossification...	OMIM:610442
Intellectual Developmental Disorder, Autosomal Dominant 64	Prominent metopic ridge, Micrognathia, Cupped ear, Growth delay, Plagiocephaly, Clinodactyly of t...	OMIM:619188
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Microphthalmia, Syndromic 6	Anophthalmia, Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, Clinodactyly of the ...	OMIM:607932
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Short thumb, Sensorineural hearing impairment, 2-3 toe syndactyly, Gen...	ORPHA:2712
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Inguinal hernia, Posteriorly rotated ears, Mi...	ORPHA:2789
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Micrognathia, Hydrocephalus, Aplasia/Hypopl...	ORPHA:3301
Periventricular Nodular Heterotopia 1	Syndactyly, Abnormality of neuronal migration, Gray matter heterotopia, Short finger, Clinodactyly	OMIM:300049
Trisomy 10P	Thumb contracture, Wide cranial sutures, Frontal bossing, Small for gestational age, Posteriorly ...	ORPHA:171929
Trichothiodystrophy 3, Photosensitive	Natal tooth, Short stature, Carious teeth, Low-set ears, Trigonocephaly, Microphthalmia, Intraute...	OMIM:616395
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Short stature, Brachycephaly, ...	OMIM:201180
Frontorhiny	Low-set, posteriorly rotated ears, Pericallosal lipoma, Encephalocele, Camptodactyly of finger, H...	ORPHA:391474
Monosomy 9Q22.3	Delayed eruption of teeth, Trigonocephaly, Large for gestational age, Rhabdomyosarcoma, Hydroceph...	ORPHA:77301
Adenylosuccinase Deficiency	Skeletal muscle atrophy, Prominent metopic ridge, Brachycephaly, Growth delay, Low-set ears	OMIM:103050
Meckel Syndrome, Type 2	Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An...	OMIM:603194
Hydrolethalus Syndrome 1	Omphalocele, Abnormal pinna morphology, Abnormal cortical gyration, Micrognathia, Preaxial hand p...	OMIM:236680
Hypomelanosis Of Ito	Syndactyly, Gray matter heterotopia, Hand polydactyly, Radial deviation of finger, Clinodactyly	OMIM:300337
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Supernumerary tooth, Protruding ear, Microphthalmia	ORPHA:627
Mosaic Trisomy 9	Camptodactyly of finger, Micromelia, Micrognathia, Elbow dislocation, Rocker bottom foot, Spina b...	ORPHA:99776
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Retrognathia, Hypoplasia of teeth, Growth delay, Keratoc...	OMIM:234050
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus...	OMIM:256520
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Frontal bossing, Sandal gap, Short stature, Micrognathia, Joint stiffness, Decreased ...	OMIM:619127
Pallister-Hall Syndrome	Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydac...	OMIM:146510
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim...	OMIM:607323
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Flat occiput, Simplified gyral pattern, Protruding ear, Microphthalmia	OMIM:152950
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Postnatal growth retardation, Intrauterine growth retardation	OMIM:609054
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Short clavicle...	OMIM:169550
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Clinodactyly of the 5th finge...	OMIM:612474
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95717
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S...	OMIM:619638
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Sensorineural hearing impairment, P...	ORPHA:139471
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Brachycephaly, Prominen...	OMIM:135900
Ogden Syndrome	Microretrognathia, Frontal bossing, Inguinal hernia, Torticollis, Broad hallux, Postnatal growth ...	ORPHA:276432
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Low-set, posteriorly rotated ears, Enlarged interphalangeal joints, Proximal placement of thumb, ...	ORPHA:2988
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Prominent f...	OMIM:180849
Hypomandibular Faciocranial Dysostosis	Craniosynostosis, Brachycephaly, Low-set ears, Trigonocephaly, Maxillozygomatic hypoplasia, Midfa...	ORPHA:1790
Achard Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly	OMIM:100700
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia, Macrotia, Neural tube defect	OMIM:600776
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly, Gray matter heterotopia, Low-set ears, Tracheomalacia	OMIM:618797
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Dislocated radia...	OMIM:102500
16Q24.3 Microdeletion Syndrome	Frontal bossing, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Periventricul...	ORPHA:261250
Nanophthalmos 4	Microphthalmia	OMIM:615972
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Joint stiffness, Pachygyria,...	ORPHA:2995
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Frontal bossing, Mixed hearing impairment, Obesity, Gray matter heterotopia, Low-set ears, Thicke...	OMIM:608624
D-Bifunctional Protein Deficiency	Osteopenia, Frontal bossing, Decreased muscle mass, Micrognathia, Split hand, Large fontanelles, ...	OMIM:261515
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Sm...	OMIM:268400
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Micrognathia, Micromelia, Proximal placement of thumb, Brachycep...	ORPHA:199
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Limb...	OMIM:207950
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Small earlobe, Short stature, Micrognathia, Hypoplasia of the maxilla, E...	OMIM:613805
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Recurrent fractures, Reduced bone mineral density, Increased suscept...	OMIM:166220
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename...	ORPHA:2791
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha...	ORPHA:974
Joubert Syndrome	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Hand polydactyly, Biparietal nar...	ORPHA:475
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Asym...	ORPHA:3063
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Gray matter heterotopia, Hip dysplasia, Polydactyly	ORPHA:531151
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Overfolding of the superior helices, Hypoplastic ischia, Micrognathia, B...	ORPHA:313855
Stromme Syndrome	Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Preaxial polydactyly, Myopathy, Stillbirth, ...	OMIM:243605
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephaly, Disproportionate shortening...	OMIM:263520
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Prominent metopic ridge, Brachycephaly, Low-set ears	OMIM:608688
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Plagiocephaly	OMIM:308350
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Brachycephaly, Genu valgum, Growth delay, Posterior plagiocephaly, Microtia, Joint h...	OMIM:617798
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Abnormal pinna morphology, Patellar aplasia, Brachycephaly, Patellar hyp...	ORPHA:495818
Fragile X Syndrome	Joint laxity, Mandibular prognathia, Periventricular heterotopia, Macrotia, Metacarpophalangeal j...	OMIM:300624
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Frontal bossing, Short stature, Abnormal cortical gyration, Hearin...	OMIM:311200
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Short stature, Brachycephaly	ORPHA:1173
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S...	OMIM:305600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Brachycephaly, Talipes equinovarus, Low-set ears, Neonatal death, Clinodactyly of ...	OMIM:619859
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Micrognathia, Short metatarsal, Protruding ear, Abnorma...	OMIM:216340
Congenital Myopathy 13	Skeletal muscle atrophy, Short stature, Micrognathia, Fatty replacement of skeletal muscle, Flexi...	OMIM:255995
Ohdo Syndrome, X-Linked	Inguinal hernia, Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Hiatus h...	OMIM:300895
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Overlapping toe, Short stature, Protruding ear, Low-set ears,...	OMIM:618571
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Micrognathia, Generalized joint laxity, Hypermobility of interphalangeal j...	ORPHA:508498
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Short stature, Tapere...	OMIM:301072
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurrent fractures, Protrusio...	OMIM:610682
Micro Syndrome	Low-set, posteriorly rotated ears, Short stature, Micrognathia, Joint stiffness, Pachygyria, Liss...	ORPHA:2510
Fanconi Anemia, Complementation Group S	Short stature, Proximal placement of thumb, Dental malocclusion, Microphthalmia, Clinodactyly, Fa...	OMIM:617883
Distal Deletion 3P	Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, Postaxial hand p...	ORPHA:1620
3Mc Syndrome 1	Conjunctival telangiectasia, Omphalocele, Single interphalangeal crease of fifth finger, Hearing ...	OMIM:257920
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Thickened helices, Trigonoceph...	ORPHA:1587
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyse...	OMIM:618476
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Posteriorly rotated ears, Down-sloping shoulders, Short statu...	ORPHA:1974
Vici Syndrome	Short stature, Joint stiffness, Hypoplasia of the pons, Sensorineural hearing impairment, Gray ma...	ORPHA:1493
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Hiatus hernia, Postna...	OMIM:304050
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Cupped ear,...	ORPHA:1352
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia, Agenesis of corpus ...	ORPHA:77298
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, Protruding ear, Joint laxity, Microre...	OMIM:601776
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Uplifted earlobe, 2-3 toe syndactyly, Low-set ears, Microphthalmia, Retrognathia...	OMIM:616449
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Abnormal pinna morphology, Short stature, Micrognathia, Carious teeth...	OMIM:244450
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Disproportionate sh...	OMIM:619131
Peroxisome Biogenesis Disorder 13A (Zellweger)	Flat occiput, Delayed closure of the anterior fontanelle, Micrognathia, Large fontanelles, Gray m...	OMIM:614887
Holoprosencephaly	Omphalocele, Frontal bossing, Encephalocele, Anophthalmia, Failure to thrive in infancy, Flat occ...	ORPHA:2162
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Periventricular heterotopia, Sensorineural hearing impairment, Knee fle...	OMIM:618733
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration, Hearing impairment	ORPHA:65
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo...	OMIM:617952
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ...	OMIM:263650
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Obesity, Upper limb undergrowth, Brachycephaly, Slend...	ORPHA:369837
Kbg Syndrome	Vertebral fusion, Syndactyly, Posteriorly rotated ears, Short stature, Brachycephaly, Cutaneous s...	OMIM:148050
Orofaciodigital Syndrome Xvi	Inguinal hernia, Postaxial hand polydactyly, Postaxial foot polydactyly, Gray matter heterotopia,...	OMIM:617563
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ...	OMIM:309350
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia	OMIM:138930
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusion, Fing...	ORPHA:959
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Syndromic 8	Mandibular prognathia, Microphthalmia, Split foot	OMIM:601349
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Short sta...	OMIM:278250
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,...	OMIM:231070
Humeroradial Synostosis	Brachycephaly, Small earlobe, Humeroradial synostosis, Microtia	OMIM:236400
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani...	ORPHA:33364
Teebi-Shaltout Syndrome	Syndactyly, Turricephaly, Ulnar deviation of the hand, Short stature, Rocker bottom foot, Metatar...	OMIM:272950
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Short stature, C...	ORPHA:568
Fucosidosis	Decreased muscle mass, Lipoatrophy, Brachycephaly, Failure to thrive, Hearing impairment	ORPHA:349
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Micrognathia, Thin calvarium, Midface retrusion, Delayed cranial...	ORPHA:1129
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Hypoplasia of the max...	OMIM:211380
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Camptodactyly of finger, Joint...	ORPHA:1606
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Hearing impairment, Aplasia of the distal phalanx of the 5th toe, Intrau...	ORPHA:364577
Angelman Syndrome	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Obesity, Macroglossia	OMIM:105830
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Lig4 Syndrome	Micrognathia, Brachycephaly, Growth delay, Biparietal narrowing, Clinodactyly of the 5th finger	ORPHA:99812
Parietal Foramina 1	Wormian bones, Encephalocele, Parietal foramina	OMIM:168500
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Small for gestational age, Short stature, Anteverted e...	OMIM:610443
Lig4 Syndrome	Small for gestational age, Brachycephaly, Clinodactyly of the 5th finger, Failure to thrive, Chro...	OMIM:606593
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Uplifted earlobe, Protruding ear, S...	OMIM:613406
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Brachycephaly, Atypica...	OMIM:601701
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow...	OMIM:166200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi...	ORPHA:352665
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Hypoplasia of the brainstem, Short stature, Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hearing impairment	OMIM:120433
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Short stature, Macrotia, Flexion contracture, Absence of subcutaneous ...	OMIM:601675
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flat occiput, Overlapping toe, Flexion contracture, Plagiocephaly, Low-set ears, Overlapping fing...	OMIM:619383
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Craniosynostosis, Tapered finger, Micrognathia, Absence of subcutaneous fat, Sma...	OMIM:620005
Brain Small Vessel Disease 2	Growth delay, Subcortical heterotopia, Polymicrogyria	OMIM:614483
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Frontal bossing, Inguinal hernia, Uplifted earlobe, Large for gestatio...	OMIM:280000
Ring Chromosome 7 Syndrome	Mandibular prognathia, Short stature, Prominent crus of helix, Small hand, Brachycephaly, Genu va...	ORPHA:1449
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Overlapping toe, Low-set ears, Periventricular heterotopia	OMIM:618974
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Hypoplasia of the iris, Multiple central nervous system lipomas, Lipoma, Limbal de...	OMIM:613001
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Short stature, Abnormality of neuronal migration, Protruding ear, Biparietal narrowing, Intrauter...	ORPHA:2518
Tetrasomy 18P	Low-set, posteriorly rotated ears, Large hands, Abnormality of neuronal migration	ORPHA:3307
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Inguinal hernia, Short stature, Micrognathia, Abnormality of the elbow, Sm...	ORPHA:85276
Joubert Syndrome 30	Molar tooth sign on MRI, Gray matter heterotopia, Postaxial hand polydactyly	OMIM:617622
Gapo Syndrome	Frontal bossing, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micr...	OMIM:230740
Aica-Ribosiduria	Brachycephaly, Low-set ears	ORPHA:250977
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino...	ORPHA:84
Noonan Syndrome With Multiple Lentigines	Low-set, posteriorly rotated ears, Scapular winging, Short stature, Sensorineural hearing impairm...	ORPHA:500
Holoprosencephaly 14	Frontal bossing, Proboscis, Periventricular heterotopia, Aqueductal stenosis, Alobar holoprosence...	OMIM:619895
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Short stature, Severe postnatal growth retardation, Macroglossia, Malar flatteni...	OMIM:613038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystrophy, M...	OMIM:616538
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia, Midface retrusion	ORPHA:1135
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Overfolded helix, Brachycephaly	OMIM:616083
Immunodeficiency 49	Natal tooth, Posteriorly rotated ears, Micrognathia, Wormian bones, Umbilical hernia, Agenesis of...	OMIM:617237
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Facial palsy, Unilateral microphthalmos, Osteopetrosis, Failure to thrive	OMIM:615085
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Severe generalized osteoporosis, Micrognathia, Hypoplastic...	OMIM:210730
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Sensorineural hearing impairment, Protruding ear, Gro...	OMIM:614230
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Foot joint contracture, Abnormal midbrain morphology, Infa...	ORPHA:444072
Schinzel-Giedion Midface Retraction Syndrome	Midface retrusion, Increased density of long bones, Wide distal femoral metaphysis, Postnatal gro...	OMIM:269150
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Sensorineural heari...	ORPHA:95716
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Acrania, Micrognathia, Joint stiffness, Dysplastic corpus callosum, Prot...	OMIM:618820
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ...	ORPHA:93325
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Meckel Syndrome, Type 1	Omphalocele, Natal tooth, Bowing of the long bones, Syndactyly, Occipital encephalocele, Camptoda...	OMIM:249000
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus,...	ORPHA:3186
Sifrim-Hitz-Weiss Syndrome	Short stature, Trigonocephaly, Tapered finger, Cupped ear, Flat acetabular roof, Fused cervical v...	OMIM:617159
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Schinzel-Giedion Syndrome	Micrognathia, Tibial bowing, Wide anterior fontanel, Abnormal cochlea morphology, Sclerosis of sk...	ORPHA:798
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Doors Syndrome	Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, A...	ORPHA:79500
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Frontal bossing, Down-sloping shoulders, Spina bifida, H...	OMIM:109400
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Fem...	ORPHA:198
Renpenning Syndrome 1	Mandibular prognathia, Short stature, Micrognathia, Macrotia, Cupped ear, Microphthalmia, Brachyc...	OMIM:309500
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Posteriorly rotated ears, ...	OMIM:615948
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Rhabdomyolysis, Abnormality of neuronal migration, Myopathy, Polymicro...	ORPHA:157
Alg11-Cdg	Retrognathia, Gray matter heterotopia, Limb hypertonia, Abnormal adipose tissue morphology, Failu...	ORPHA:280071
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairme...	ORPHA:1299
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Obesity	OMIM:601794
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Frontal bossing, Posteriorly rotated ears, Periventricular heterotopia, Low-set ears, Thickened h...	OMIM:618929
Fryns Syndrome	Omphalocele, Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Cl...	ORPHA:2059
Periventricular Nodular Heterotopia	Periventricular heterotopia, Shoulder dislocation, Patellar dislocation, Hernia, Joint hypermobility	ORPHA:98892
Fanconi Anemia, Complementation Group D2	Small for gestational age, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly,...	OMIM:227646
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Pituitary dwarfism, Optic nerve hypoplasia, Overweight, Delayed proxi...	ORPHA:226307
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Growth delay, Microphthalmia, Radial dysplasia	OMIM:617244
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, Simple ear, Joint laxity, Short stature, Facial palsy, Short thumb,...	OMIM:619325
Nance-Horan Syndrome	Macrotia, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Rhabdomyosarcoma, Micrognathia...	ORPHA:1052
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Scarring alopecia of scalp, Clinodactyly,...	OMIM:618727
Chime Syndrome	Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl...	ORPHA:3474
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Abnormal pinna morphology, Wide anterior fontanel, Rha...	ORPHA:26791
Fryns Syndrome	Microretrognathia, Omphalocele, Rocker bottom foot, Proximal placement of thumb, Large for gestat...	OMIM:229850
Degcags Syndrome	Osteopenia, Micrognathia, Diaphragmatic eventration, Agenesis of corpus callosum, Syndactyly, Hia...	OMIM:619488
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Contracture of ...	OMIM:300166
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Brachycephaly, Cranium bifidum occultum, Microphthalmia, Malar flatteni...	OMIM:229400
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Sandal gap, Broad hallux, Obesity, Brachycephaly, Hip dysplasia, Cutaneous finge...	OMIM:616078
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Brachycephaly, Hypoplasia of the brainstem, Joint laxity,...	ORPHA:480880
Primrose Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flex...	OMIM:259050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Plagiocephaly, Gray matter heterotopia, Hi...	ORPHA:453499
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Short stature, Brachycephaly, Hernia, Midface retrusion	ORPHA:1394
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Micrognathia, Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Flat occiput, Micrognathia, Protruding ear, Low-set, posteriorly rotated e...	ORPHA:534
22Q11.2 Deletion Syndrome	Micrognathia, Conductive hearing impairment, Small earlobe, Arachnodactyly, Abnormal dental ename...	ORPHA:567
Osteopetrosis With Renal Tubular Acidosis	Short stature, Recurrent fractures, Micrognathia, Persistence of primary teeth, Macrotia, Retrogn...	ORPHA:2785
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular cana...	ORPHA:138
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Sensorineural hearing impairment	ORPHA:1473
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Reduced subcutaneous adipose tissue, Short stature, Thickened helices, Tap...	OMIM:619950
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Front...	OMIM:206900
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Sensorineural hearing impairment, Hammertoe, Abnormal ...	ORPHA:773
Down Syndrome	Joint laxity, Sandal gap, Short stature, Hypoplastic iliac wing, Conductive hearing impairment, B...	OMIM:190685
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Tapered fing...	ORPHA:464311
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, External ear mal...	ORPHA:2505
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos, Malar flattening, Enamel hypoplasia, Failure to thrive,...	OMIM:618874
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti...	OMIM:259100
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Pallister-Hall Syndrome	Large for gestational age, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Low-set, ...	ORPHA:672
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Severe short stature, Small for gestational age, Short stature, D...	OMIM:127000
Peters-Plus Syndrome	Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal placement of thumb, Sho...	OMIM:261540
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Prominent metopic ridge, Posteriorly rotated ears, Micrognathia, Aplasia of the distal phalanx of...	OMIM:608670
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Short stature, Tapered finger, Short thumb, Brachycephaly, Lower limb hypertonia...	OMIM:616728
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Congenital diaphragmatic h...	ORPHA:2556
Oculodentodigital Dysplasia	Abnormal pinna morphology, Carious teeth, Conductive hearing impairment, Clinodactyly, 4-5 finger...	OMIM:164200
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Joint laxity, Hydrocephalus, Macroglossia, Keratoconjunctiviti...	OMIM:616260
Peters Plus Syndrome	Micromelia, Micrognathia, Brachycephaly, Conductive hearing impairment, Clinodactyly of the 5th f...	ORPHA:709
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Inguinal hernia, Postaxial hand polydactyly, Hydrocephalus, Abnormality ...	ORPHA:1454
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Simple ear	OMIM:619318
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Micrognathia, Hydrocephalus, Growth delay, Anotia, Bilateral talipes...	OMIM:614083
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Lateral ventricle dilatation, Microphthalmia, Failure to thriv...	OMIM:300952
Menkes Disease	Inguinal hernia, Osteomyelitis, Bowing of the long bones, Tarsal synostosis, Recurrent fractures,...	ORPHA:565
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Cupped ear, Brachycephaly, Contracture of the proximal interphalangeal joint of th...	OMIM:618223
Fanconi Anemia, Complementation Group F	Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microt...	OMIM:603467
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Low-set ears, Abnormal metacarpal morph...	ORPHA:284160
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Micrognathia, Joint stiffness, Brachycephaly, Large hands	ORPHA:2062
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Lipodystrophy...	ORPHA:2834
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Low-set ears, Microphthalmia, Failure to thrive, I...	ORPHA:2470
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Inguinal hernia, Short stature, Micrognathia, Carious teet...	OMIM:223370
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Frontal bossing, Sandal gap, Posteriorly rotated ears, Optic...	OMIM:620330
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Thickened calvaria, Optic disc hypoplasia, Agenesis of corpus callosum, Loss of facia...	ORPHA:3455
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Hypoplasia of teeth, Microtia, Microphthalmia, Intrauterine growth ...	ORPHA:2728
Congenital Disorder Of Deglycosylation 1	Facial hypotonia, Small hand, Osteoporosis, Brachycephaly, Intrinsic hand muscle atrophy, Short f...	OMIM:615273
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Short stature, Small for gestational age, Pachygyria, Gray matter heterot...	OMIM:620024
Vici Syndrome	Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Gray matter heterot...	OMIM:242840
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short metacarpal, Brachydactyly, Short stature, Short metatarsal, Obesity, Retro...	OMIM:617157
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal de...	ORPHA:464
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodact...	OMIM:113620
Hennekam-Beemer Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Conductive hearing impairment, Microtia, Cl...	ORPHA:2135
Deafness, X-Linked 7	Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear...	OMIM:301018
Atelis Syndrome 2	Frontal bossing, Micrognathia, Protruding ear, Low-set ears, Microphthalmia, Clinodactyly, Dacryo...	OMIM:620185
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly	ORPHA:261272
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Femoral bowing, Conductive hearing impairment, Simple ear, Cloverleaf skull, Arach...	OMIM:201750
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Posteriorly rotated ears, Periventricular nodular heterotopia, Tapered f...	OMIM:618918
3Q29 Microdeletion Syndrome	Tapered finger, Macrotia, Joint hyperflexibility, Low-set ears, Clinodactyly of the 5th finger, M...	ORPHA:65286
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia	OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Polymicrogyria, Hydrocephalus, Buphthalmos, Hypoplasia of the brainstem, Hypoplasia...	OMIM:253280
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Failure to thrive in infancy	OMIM:618805
Fanconi Anemia, Complementation Group C	Small for gestational age, Short stature, Absent thumb, Absent radius, Short thumb, Flexion contr...	OMIM:227645
Proteus Syndrome	Decreased muscle mass, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of...	ORPHA:744
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Micrognathia, Postnatal growth retardation, Con...	ORPHA:83617
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Micr...	ORPHA:2166
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Trig...	ORPHA:434179
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short stature, Hearing impairment, Flexion contracture, Limitation of joint mobility, Osteolysis,...	ORPHA:90153
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic...	OMIM:619503
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Partial agen...	OMIM:270400
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Sensorineural hearing impairment, Low-set ears	OMIM:618652
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Micrognathia, Severe sensorineural hearing impairment, Conductive hearing impairment, Broad hallu...	OMIM:620186
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Frontal bossing, Posteriorly rotated ears, Abnormal pinna morphology, Short stature, ...	OMIM:616975
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Postnata...	OMIM:309000
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hypoplasia of...	OMIM:184705
Skin Creases, Congenital Symmetric Circumferential, 2	Posteriorly rotated ears, Short stature, Uplifted earlobe, Tapered finger, Carious teeth, Microgn...	OMIM:616734
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Genu recurvat...	OMIM:619539
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly	OMIM:147250
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Obesity, Abnormal neuron morphology, Abnormality of neuronal migration	ORPHA:163681
Townes-Brocks Syndrome	Triphalangeal thumb, Clinodactyly of the 5th finger, Limbal dermoid, Agenesis of corpus callosum,...	ORPHA:857
Bilateral Perisylvian Polymicrogyria	Micrognathia, Weakness of facial musculature, Flexion contracture, Perisylvian predominant thick ...	ORPHA:98889
Meckel Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Bowing of the long bones, Anophthalmia, Microgn...	ORPHA:564
Viss Syndrome	Micrognathia, Generalized joint laxity, Brachycephaly, Joint laxity, Microretrognathia, Long toe,...	OMIM:619472
Oculo-Palato-Cerebral Syndrome	Short stature, Small hand, Short foot, Thickened helices, Microphthalmia, Macrotia, Joint hypermo...	ORPHA:2714
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Protruding ear, Keratoconjunctivitis sicca, Microphthalmia, Hearing impairment	ORPHA:1806
Rodrigues Blindness	Microphthalmia, Short stature, Protruding ear	OMIM:268320
Fanconi Anemia, Complementation Group E	Small for gestational age, Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmi...	OMIM:600901
Diamond-Blackfan Anemia 1	Short stature, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of ...	OMIM:105650
Cockayne Syndrome	Reduced subcutaneous adipose tissue, High-frequency sensorineural hearing impairment, Skeletal mu...	ORPHA:191
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Wormian bones, Short stature, Hearin...	ORPHA:444077
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Short toe, Brachycephaly, Clinodactyly of the 5th finger, Low-set...	ORPHA:1519
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Congenital diaphragmatic hernia, Hydrocephalus, Colpocephaly, Microphthalmia, Agen...	OMIM:309801
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:228308
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv...	OMIM:164210
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Clubbing of fingers, Right ventricular hypertrophy	ORPHA:335
Fanconi Anemia, Complementation Group A	Small for gestational age, Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmi...	OMIM:227650
Charge Syndrome	Anophthalmia, Micrognathia, Hand monodactyly, Holoprosencephaly, Hypoplasia of the ulna, Facial p...	OMIM:214800
Microphthalmia, Syndromic 9	Inguinal hernia, Anophthalmia, Short stature, Severe short stature, Congenital diaphragmatic hern...	OMIM:601186
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spin...	ORPHA:508488
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Oculoauricular Syndrome	Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Low-set ears, Microphakia, Mic...	OMIM:612109
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Atrophic scars, Joint su...	OMIM:617821
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, Short finger, Mi...	OMIM:601552
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Protruding ear, Clinodactyl...	OMIM:300855
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Growth delay, Macro...	ORPHA:90674
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Obesity	ORPHA:363741
Linear Nevus Sebaceus Syndrome	Frontal bossing, Genu recurvatum, Growth delay, Prominent occiput, Plagiocephaly, Biparietal narr...	ORPHA:2612
Cat Eye Syndrome	Short stature, Micrognathia, Absent radius, Low-set ears, Microphthalmia, Umbilical hernia, Heari...	OMIM:115470
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal pinna morphology, Abnormal...	OMIM:219000
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Hearing impairment, Micro...	OMIM:606170
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration	ORPHA:2481
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Inguinal hernia, Overlapping toe, Tapered finger, 2-3 toe syndactyly, Obesity, L...	OMIM:618653
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Dental mal...	OMIM:603457
Bifid Nose With Or Without Anorectal And Renal Anomalies	Overfolded helix, Posteriorly rotated ears, Brachycephaly, Low-set ears	OMIM:608980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het...	OMIM:615287
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Cachexia, Sensorineural hearing impairment, Hydrocephalus, Brachycephaly, Growth d...	ORPHA:2072
Familial Exudative Vitreoretinopathy	Microphthalmia, Hearing impairment, Reduced bone mineral density	ORPHA:891
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Agenesis ...	ORPHA:261537
Holoprosencephaly 2	Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Absent nasal septal cartilage, Ag...	OMIM:157170
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Phthisis bulbi, Osteoporosi...	OMIM:259770
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Macrotia, Low-set ears	OMIM:615145
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Postaxial polydactyly	OMIM:219730
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Rhabdomyosarcoma, Retrognathia, Abnormality of ...	ORPHA:647
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Genu recurvatum, Postnatal growth retardation, Hip dis...	ORPHA:90348
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Diastasis recti, Micrognathia, Brachycephaly, Low-set ears, Neonatal death, Retrogna...	OMIM:265380
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Mild postnatal growth retardation, Carious teeth, Flexion contracture, K...	ORPHA:90324
Holoprosencephaly 1	Short stature, Proboscis, Alobar holoprosencephaly, Microphthalmia, Ethmocephaly, Agenesis of cor...	OMIM:236100
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Proboscis, Abnormal para...	ORPHA:141099
Fraser Syndrome	Omphalocele, Finger syndactyly, Low-set, posteriorly rotated ears, Toe syndactyly, Anophthalmia, ...	ORPHA:2052
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ...	ORPHA:522077
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Absent mesencephalon	OMIM:601374
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Agenesis ...	ORPHA:261552
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Inguinal hernia, Severe short stature, Wide anterior fontanel, Hip dislocation, Joi...	ORPHA:90349
Arima Syndrome	Brainstem dysplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Growth delay, Hypopl...	OMIM:243910
Mowat-Wilson Syndrome	Mandibular prognathia, Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Conductiv...	ORPHA:2152
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Hypoplastic pelvis, Low-set ears, M...	OMIM:273395
Histiocytoid Cardiomyopathy	Hydrocephalus, Microphthalmia, Failure to thrive, Agenesis of corpus callosum, Congenital aphakia	ORPHA:137675
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, Microphthalmia, 3-4...	OMIM:615877
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Short stature, Optic nerve hypoplasia, Microphthalmia	OMIM:610125
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Polymicrogyria, Talipes equinovarus, Microphthalmia, Pachygyria, C...	OMIM:100300
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Corneal scarring	OMIM:212550
Papillorenal Syndrome	Joint laxity, Microphthalmia, Sensorineural hearing impairment, Short stature	OMIM:120330
Manitoba Oculotrichoanal Syndrome	Omphalocele, Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction	OMIM:248450
Pagod Syndrome	Omphalocele, Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Meningo...	ORPHA:991
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma	OMIM:276300
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cellulitis, Conjunctivitis, Micrognathia	OMIM:153400
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Short stature, Scarring, Microphthalmia	OMIM:308300
Aspartylglucosaminuria	Joint laxity, Short stature, Hypoplastic frontal sinuses, Brachycephaly, Macroglossia, Hernia, Pa...	OMIM:208400
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Pallister-Killian Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C...	OMIM:601803
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Protruding ear, Panniculitis, Cellulitis, Microphthalmia	ORPHA:2526
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Keratoconjunctivitis sicca, Conjunctivitis, Sensorineural hearing impairment	OMIM:278730
Common Variable Immunodeficiency	Failure to thrive in infancy, Brachycephaly	ORPHA:1572
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction	ORPHA:2717
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Sensorineural hearing impairment, Short stature	OMIM:610651
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Inguinal hernia, Elbow dislocation, Osteoarthritis, Limitation of joint mobili...	ORPHA:285
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Fraser Syndrome 2	Microphthalmia, Atresia of the external auditory canal, Low-set ears, Cutaneous syndactyly	OMIM:617666
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Medulloblastoma	Hydrocephalus, Bilateral sensorineural hearing impairment, Delayed cranial suture closure	ORPHA:616
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Isolated Arrhinia	Microphthalmia, Microtia, Hypoplasia of the nasal bone, Absent nasal septal cartilage	ORPHA:1134
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Mowat-Wilson Syndrome	Delayed eruption of teeth, Short stature, Uplifted earlobe, Cupped ear, Generalized muscle hypert...	OMIM:235730
Norrie Disease	Aplasia/Hypoplasia of the lens, Cachexia, Macrotia, Sensorineural hearing impairment, Protruding ...	ORPHA:649
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Cupped ear	OMIM:110100
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal pinna morphology, Down-sloping shoulders, Overfolded helix, Ag...	OMIM:309800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Failure of eruption of permanent teeth, Inguinal hernia, Anophthalmia	ORPHA:2250
Phace Syndrome	Microphthalmia, Lens coloboma, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:42775
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos	OMIM:310600
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Treacher Collins Syndrome 1	Lacrimal duct stenosis, Micrognathia, Bilateral microphthalmos, Microtia, Atresia of the external...	OMIM:154500
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Pierson Syndrome	Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, ...	OMIM:609049
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Ohdo Syndrome, Sbbys Variant	Posteriorly rotated ears, Micrognathia, Prominent occiput, Patellar dislocation, Low-set ears, Lo...	OMIM:603736
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Patell...	ORPHA:85201
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Failure to thrive, Severe short stature, Posteriorly rotated ears, Camptodactyly of finger, Micro...	ORPHA:3047
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Facial paralysis	OMIM:175780

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 Kat6b

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 Kat6b.

No publications found that use IMPC mice or data for Kat6b.

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MGI Allele	Allele Type	Produced
Kat6b^{tm465263(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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