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Gene: Hhat MGI:2444681

Registered for phenotyping at IMPC

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

Gene Summary

Name:

hedgehog acyltransferase

Synonyms:

2810432O22Rik, Skn

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 Hhat 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 Hhat (2 diseases)
Human diseases predicted to be associated with Hhat (1203 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Chondrodysplasia-Difference Of Sex Development Syndrome		Short metacarpal, Broad long bones, Micromelia, Male pseudohermaphroditism, Increased skull ossif...	ORPHA:1422
Nivelon-Nivelon-Mabille Syndrome		Short metacarpal, Micromelia, Male pseudohermaphroditism, Optic disc coloboma, Hypoplasia of the ...	OMIM:600092

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

Disease	Matching phenotypes	Source
Holoprosencephaly 7	Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	OMIM:610828
Acalvaria	Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida	ORPHA:945
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Holoprosencephaly, Micropenis, Agenesis o...	OMIM:618820
Holoprosencephaly 2	Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Holoprosencephaly, Chori...	OMIM:157170
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Overlapping toe, Single transverse palmar crease, Micrognathia, Prominent nose, W...	OMIM:201170
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Abnormal morphology o...	ORPHA:1307
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig...	ORPHA:3258
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Mental retardation, x-linked, syndromic, Turner type	Limited elbow extension, Holoprosencephaly, Tapered finger	OMIM:300706
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality...	ORPHA:521308
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Holoprosencephaly, Tapered finger	OMIM:619033
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis...	ORPHA:2003
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnorma...	ORPHA:163649
Pierpont Syndrome	Brachycephaly, Microcornea, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis...	OMIM:602342
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Micromelia, Short tibia, Humerora...	OMIM:251230
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph...	OMIM:609637
Pierpont Syndrome	Joint laxity, Thin upper lip vermilion, Prominent fingertip pads, Wide nasal ridge, Cryptorchidis...	ORPHA:487825
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Coloboma, Widely-spaced maxillary central incisors, Pectoral muscle hy...	OMIM:136760
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Frontal bossing, Delayed epiphyseal ossification, Clinodactyly, Wide nasal bridge, Cutaneous synd...	ORPHA:166024
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Aarskog-Scott Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac...	ORPHA:915
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Downturned corners o...	ORPHA:1327
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim...	ORPHA:93320
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Prominent nose, Flexion contracture, Dehydration, Knee flexion contracture, Agenesi...	OMIM:214150
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology	OMIM:183020
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis,...	OMIM:311895
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita, Talipe...	OMIM:616570
Warburg Micro Syndrome 1	Anteverted nares, Overlapping toe, External genital hypoplasia, Micrognathia, Kyphoscoliosis, Cry...	OMIM:600118
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Hypospad...	OMIM:619736
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Depressed nasal bridge, Abnormal distal phalanx morphology of finger, Abnormality of th...	ORPHA:1387
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Depressed nasal ridge, Gonadotropin deficiency, Hemivertebrae,...	ORPHA:672
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Median cleft lip and palate, Absent nasal septal cartil...	OMIM:142946
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men...	ORPHA:1908
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Brachycephaly, Microcornea, High palate, Hypogonadism, Narrow mouth, Microphthalmia, Re...	ORPHA:2528
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Brachycephal...	ORPHA:950
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Ambiguous genitalia, Pro...	ORPHA:93267
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Brachycephaly, High palate, Short philtrum, Long toe, Ant...	ORPHA:3063
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia...	OMIM:206920
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri...	ORPHA:96264
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Oculofaciocardiodental Syndrome	Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb...	ORPHA:2712
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness	OMIM:607641
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp...	OMIM:201000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Molar tooth...	OMIM:616300
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal b...	OMIM:615524
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
Cofs Syndrome	Cataract, Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Joint stiffness, Wide...	ORPHA:1466
Moebius Syndrome	Abnormal nasopharynx morphology, Micrognathia, Hypoplasia of the brainstem, High palate, Lower li...	OMIM:157900
Marden-Walker Syndrome	Micrognathia, High, narrow palate, Hypoplasia of the brainstem, Congenital contracture, High pala...	OMIM:248700
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Cataract, Prominent nose, Hypoplasia of the pons, Micrognathia, Partial agene...	OMIM:616171
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod...	OMIM:200990
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ...	OMIM:619148
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior fontanel, Cry...	OMIM:607812
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Brachycephaly, Downturned corners of mouth, Abnormal thalamus morpho...	ORPHA:404440
Joubert Syndrome 37	Frontal bossing, Wide nose, Lumbar hyperlordosis, Anteverted nares, Postaxial polydactyly, Crypto...	OMIM:619185
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Wide nose, Brachydactyly, Anteverted nares, Depressed nasal bridge, Sa...	OMIM:614607
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a...	OMIM:619941
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polyda...	OMIM:614815
48,Xxyy Syndrome	Hypoplasia of penis, Flat occiput, Abnormal shoulder morphology, Clinodactyly of the 5th finger, ...	ORPHA:10
Temtamy Syndrome	Brachydactyly, Convex nasal ridge, Micrognathia, Short toe, Thick lower lip vermilion, Joint hype...	ORPHA:1777
Otodental Syndrome	Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Anteve...	ORPHA:2791
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange...	ORPHA:3434
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Depressed nasal br...	ORPHA:137834
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ...	OMIM:212720
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b...	ORPHA:2025
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Hemivertebrae, Clitoral ...	OMIM:268310
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri...	ORPHA:96263
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Conve...	OMIM:600252
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Developmental cataract, Inc...	OMIM:618761
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Coloboma, Pul...	OMIM:166750
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Anteverted nare...	OMIM:616331
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Anteverted nares, Broad nasal ti...	OMIM:300602
Hartsfield Syndrome	Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Intrauterin...	ORPHA:2117
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Brachycephaly, Downtu...	ORPHA:199
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc...	ORPHA:2780
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-...	OMIM:601812
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Convex nasal ridge, Optic nerve hypoplasia, Cry...	ORPHA:85284
Osteoglosphonic Dysplasia	Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Rhizomelia, Cryptorchidism, Ab...	ORPHA:2645
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Thoracolumbar scoliosis, Aplasia/Hypoplasia o...	OMIM:113000
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C...	OMIM:619797
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Prominent nasal bridge, Postaxial polydactyly, Hydroce...	OMIM:614424
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Mic...	ORPHA:166272
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Broad nasal tip, Bifid nasal tip, Wide mouth, Short foot, Hypertension, Median pseudocleft lip, C...	OMIM:619758
Orofaciodigital Syndrome Type 6	Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobulated tong...	ORPHA:2754
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior f...	OMIM:619135
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly	ORPHA:1445
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Cryptorchidism, Duplication of phala...	OMIM:243310
Al-Gazali-Bakalinova Syndrome	Frontal bossing, Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Lymphedema, Clinod...	OMIM:607131
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Whistling Face Syndrome, Recessive Form	Prominent nasal bridge, Shoulder flexion contracture, Micrognathia, Underdeveloped nasal alae, Tr...	OMIM:277720
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Dental crowding, Anteverted nares, Prominent nasal br...	OMIM:618825
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Hypop...	ORPHA:633
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Metatarsus valgus, Joint stiffness, Radial deviation of th...	ORPHA:1388
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Holoprosencephaly, Hydranencephaly, Intrauterine growth retardation, Add...	ORPHA:2570
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
2Q24 Microdeletion Syndrome	Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Clinodactyly, Orofacial cleft, Downturned ...	OMIM:180700
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Submucous ...	ORPHA:2189
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Bilateral cryptorchidism, Depressed nas...	OMIM:613451
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormal midbrain morphology, Polyhydramnios, Abnormality of j...	ORPHA:314621
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve...	ORPHA:87
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Corneal dystrophy, Absent frontal sinuses, Hydr...	OMIM:253250
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Polyhydramnios, Downturned corners of mouth, Advanced eruption of teeth, Prominenc...	ORPHA:2215
Cerebellar-Facial-Dental Syndrome	Cataract, Anteverted nares, Abnormal midbrain morphology, Single transverse palmar crease, Microg...	ORPHA:444072
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Small scrotum, Anteverted nares, Depressed nasal bridge, Conical ...	ORPHA:228390
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Holoprosenc...	ORPHA:1590
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy...	ORPHA:763
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Microcorne...	OMIM:601349
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced tee...	ORPHA:369891
2Q31.1 Microdeletion Syndrome	Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Coloboma, Ve...	ORPHA:251014
Trisomy 13	Anophthalmia, High, narrow palate, Hydrops fetalis, Intrauterine growth retardation, Iris colobom...	ORPHA:3378
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Anteverted nares, Kyphoscoliosis, Bulbous nose, Clino...	OMIM:616354
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Coloboma, Exaggerated cupid's bow, Broad hallux, Hypospadias, Tapered finger, Crypt...	OMIM:618659
Monosomy 18P	Kyphoscoliosis, Micrognathia, Carious teeth, Lymphedema, Brachycephaly, Cleft palate, Wide nasal ...	ORPHA:1598
3M Syndrome	Congenital hip dislocation, Micromelia, Increased vertebral height, Clinodactyly of the 5th finge...	ORPHA:2616
Joubert Syndrome 36	Molar tooth sign on MRI, Open mouth, Anteverted nares, Mesoaxial hand polydactyly	OMIM:618763
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Gloss...	ORPHA:861
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Anteverted nares, Rocker bottom foot, Wide mouth, Delayed eruption of pe...	OMIM:618506
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis morphology, Brac...	ORPHA:93274
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Microcornea, ...	OMIM:257850
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Polyhydramnios, Orofacial cleft, Finger clin...	ORPHA:1692
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Orofaciodigital Syndrome Xv	Anteverted nares, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid...	OMIM:617127
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly	OMIM:611638
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Frontal bossing, Everted upper lip vermilion, Depressed nasal ridge, H...	ORPHA:181
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy...	OMIM:235510
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Abnormally ossified verte...	ORPHA:3301
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Frontorhiny	Encephalocele, Cataract, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla...	ORPHA:391474
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Short distal phalanx of the 5t...	OMIM:614608
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Coloboma, Mic...	ORPHA:94065
Mend Syndrome	Overlapping fingers, Broad hallux, Prominent nasal bridge, Overlapping toe, Asymmetry of the mout...	ORPHA:401973
Temtamy Syndrome	Aortic regurgitation, Frontal bossing, Dental crowding, Convex nasal ridge, Micrognathia, Lens lu...	OMIM:218340
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Multiple joint contractures, Micrognathia, High pala...	ORPHA:96170
Gapo Syndrome	Mandibular prognathia, Dysmenorrhea, Micrognathia, Abnormal form of the vertebral bodies, Thick n...	ORPHA:2067
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Adrenal...	OMIM:612651
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Depressed nasal ridge, Decreased fer...	ORPHA:1816
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Distal Monosomy 7Q36	Clinodactyly of the 5th finger, Holoprosencephaly, Symphalangism affecting the phalanges of the h...	ORPHA:1636
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Cleft palate, Ulnar ...	ORPHA:921
Warburg Micro Syndrome 3	Small scrotum, Cataract, Kyphoscoliosis, Micrognathia, Hypoplastic labia minora, Flexion contract...	OMIM:614222
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Bifid nose, Macroorchidism, Malar flatt...	ORPHA:139474
Distal Duplication 18Q	Hypoplasia of penis, Abnormal dental morphology, Anteverted nares, Choanal atresia, Micrognathia,...	ORPHA:1716
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge...	OMIM:241410
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil...	OMIM:612530
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Micro Syndrome	Hypoplasia of penis, Cataract, Anteverted nares, Micrognathia, Joint stiffness, Cryptorchidism, H...	ORPHA:2510
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Polyhydramnios, Hemivertebrae, Hydrops fetalis, Fi...	ORPHA:99776
Joubert Syndrome 10	Frontal bossing, Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Thick vermilion border,...	OMIM:300804
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Micropenis, Joint contrac...	OMIM:609029
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Abnormally lar...	OMIM:269300
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm...	ORPHA:1458
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short metatarsal, ...	OMIM:612463
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Molar tooth sign on MRI, Agenesis of ...	OMIM:277170
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n...	OMIM:186500
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Joint laxity, Anteverted nares, Optic...	OMIM:615583
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Cataract, Abnormal dental morphology, Camptodactyly...	ORPHA:568
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Dental crowding, External genital hypoplasia, Micrognathia, Generalized...	ORPHA:251028
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Trisomy 18	Microcornea, Holoprosencephaly, Iris coloboma, Bilateral single transverse palmar creases, Micror...	ORPHA:3380
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Wide ant...	OMIM:619339
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Cataract, Anteverted nares, Down-sloping shoulders, Micrognathia, Cubitus valgus, Knee...	OMIM:619694
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Ambiguous...	OMIM:249000
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Sclerocornea, Micrognathia, Downturned corners of mouth, High palate, Short ...	ORPHA:284160
Gómez-López-Hernández Syndrome	Turricephaly, Anteverted nares, Corneal opacity, Hydrocephalus, Abnormal brainstem morphology, Br...	ORPHA:1532
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Single transverse palmar crease, Rocker bottom foot, Pauc...	OMIM:611890
Char Syndrome	Mesoaxial foot polydactyly, Depressed nasal bridge, Toe syndactyly, Mesoaxial hand polydactyly, P...	ORPHA:46627
Three M Syndrome 2	Delayed eruption of teeth, Frontal bossing, Prominent nasal tip, Scapular winging, Anteverted nar...	OMIM:612921
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia,...	ORPHA:48431
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, ...	OMIM:164180
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Corneal opacity, Microcornea, Abnormal calvaria morphology, Microphthalmia, Median cleft palate	ORPHA:2432
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Abnormal form of ...	ORPHA:819
Holoprosencephaly	Hypoplasia of penis, Flat occiput, Anophthalmia, Deep philtrum, Depressed nasal ridge, Abnormal f...	ORPHA:2162
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Hypoplasia of penis, Camptodactyly of finger, Polyhydramnios, Micrognathia, Limi...	ORPHA:2547
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Toe syndactyly, Micromelia, Mi...	OMIM:241800
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon...	ORPHA:71267
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Microcor...	OMIM:268400
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Joubert Syndrome With Ocular Defect	Encephalocele, Abnormal vertebral morphology, Aganglionic megacolon, Anteverted nares, Prominent ...	ORPHA:220493
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Decreased response to gro...	ORPHA:2980
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Anteverted nares, Micrognathia, Precocious puberty, Bilateral tripha...	OMIM:619356
Gorlin Syndrome	Mandibular prognathia, Frontal bossing, Vertebral fusion, Cataract, Arachnodactyly, Hypogonadotro...	ORPHA:377
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Hyposp...	OMIM:220210
Pelvis-Shoulder Dysplasia	Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the...	ORPHA:2839
Polyrrhinia	Abnormal nasal bone morphology, Abnormal external nose morphology, Orofacial cleft, Lateral ventr...	ORPHA:141091
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo...	OMIM:614120
Teebi Hypertelorism Syndrome 1	Natal tooth, Frontal bossing, Thin upper lip vermilion, Dental crowding, Anteverted nares, Sagitt...	OMIM:145420
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro...	ORPHA:3472
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Decreased response to growth...	OMIM:615866
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, ...	ORPHA:163966
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Anteriorly placed anus,...	ORPHA:280195
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Kapur-Toriello Syndrome	Single transverse palmar crease, Micropenis, Iris coloboma, Bilateral single transverse palmar cr...	OMIM:244300
Elsahy-Waters Syndrome	Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachy...	OMIM:211380
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Seckel Syndrome 2	Hypospadias, Prominent nose, Micrognathia, Heart murmur, Clinodactyly of the 5th finger, Microdon...	OMIM:606744
Short Syndrome	Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Megalocornea, Joint laxity, Wide n...	OMIM:269880
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, Deep philtrum, Short philtrum, Joint contracture of the 5th fing...	OMIM:620098
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Hypothyroidism, Sh...	OMIM:103580
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Hypospadia...	OMIM:610253
1Q21.1 Microdeletion Syndrome	High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris coloboma, Broad ha...	ORPHA:250989
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteopor...	OMIM:184260
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Anteverted nares, Persistence of primary teeth, Micrognathia, Thick lower lip ve...	OMIM:618342
Joubert Syndrome 2	Encephalocele, Frontal bossing, Depressed nasal bridge, Brainstem dysplasia, Hydrocephalus, Optic...	OMIM:608091
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Frontal bossing, Wide nose, Recurrent fractures, Craniosynostosis, Persistence of pri...	OMIM:147060
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Rere-Related Neurodevelopmental Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Hypospadias, Micrognathia, Cryptorchidism, Hi...	ORPHA:494344
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa valga	OMIM:601370
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping fingers, Overlapping toe, High, narrow palate, Bulbous nose...	OMIM:618494
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Hemivertebrae, Parietal bossing, Iris coloboma, Vertebral fus...	OMIM:109400
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Cataract, Overlapping toe, Cleft lip, Deep philtrum, Bulbous ...	OMIM:618571
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Or...	ORPHA:220497
Sotos Syndrome	Mandibular prognathia, Frontal bossing, Joint laxity, Anteverted nares, Depressed nasal bridge, B...	OMIM:117550
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Reduced bone mineral density, Glossoptosis, Cli...	ORPHA:2108
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Brach...	ORPHA:3103
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal ...	OMIM:152950
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Anteverted nares, Micrognathia, Precocious puberty, High, narrow palat...	ORPHA:96092
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas...	ORPHA:1133
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Depr...	OMIM:613885
Lambotte Syndrome	Intrauterine growth retardation, Preaxial foot polydactyly, Semilobar holoprosencephaly	OMIM:245552
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, Ambiguous ge...	OMIM:260660
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Broad skull, Generalized...	OMIM:600373
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, J...	ORPHA:2107
Otospondylomegaepiphyseal Dysplasia	Polyhydramnios, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abno...	ORPHA:1427
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cl...	OMIM:612938
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci...	ORPHA:97360
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Abnormality of the thyroid gland, Thick lower lip ver...	ORPHA:2563
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Rocker bottom foot, Camptodactyly of finger, Prominent nose, Micrognathi...	OMIM:610756
Sandestig-Stefanova Syndrome	Rocker bottom foot, Wide nasal bridge, Orofacial cleft, Developmental cataract, Intrauterine grow...	OMIM:618804
Meckel Syndrome, Type 10	Frontal bossing, Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Postaxial pol...	OMIM:614175
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, Preax...	OMIM:615948
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Frontal bossing, Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Mic...	OMIM:613604
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia o...	OMIM:180849
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, Vert...	OMIM:611209
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Narrow palat...	ORPHA:2063
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Ectopia lent...	ORPHA:2325
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Sclerocornea, Polyhydramnios, Abn...	ORPHA:818
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Tricus...	OMIM:253200
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasia of the epi...	ORPHA:434179
Ohdo Syndrome, X-Linked	Small scrotum, Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Micro...	OMIM:300895
Vitamin D-Dependent Rickets, Type 2A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:277440
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee...	OMIM:305620
Alkuraya-Kucinskas Syndrome	Small scrotum, Edema, Micrognathia, Hypoplasia of the brainstem, High palate, Micropenis, Antever...	OMIM:617822
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Joint stiffness, Cryptorchidism, Non-...	ORPHA:1752
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Cataract, Anteverted nares,...	OMIM:247200
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Hypospadias, Catar...	OMIM:616449
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine...	ORPHA:364577
Frontofacionasal Dysplasia	Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Limbal dermoid...	ORPHA:1791
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Agenesis of c...	OMIM:123790
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,...	OMIM:218400
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Brachycephaly, Oligodontia...	ORPHA:2095
Fanconi Anemia, Complementation Group S	Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Proximal placem...	OMIM:617883
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Polyhydramnios, Micrognathia...	OMIM:620186
Tetrasomy 12P	Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Anteverted nares, Abnormal ...	ORPHA:884
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Brachycephaly, Absent nasal bridge, Narrow greater sciatic no...	OMIM:617925
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hy...	ORPHA:2879
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Cleft hard palate, Micrognathia...	ORPHA:166016
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Joint contracture of the hand, Talipes equinovarus	OMIM:611067
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Abnormal midbrain morphology, Craniosynostosis, Abnormality o...	ORPHA:356961
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Hypoplasia of the ...	ORPHA:50814
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Osteoporosis, Concave n...	ORPHA:73272
Gombo Syndrome	Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Pycnodysostosis	Frontal bossing, Increased bone mineral density, Delayed eruption of primary teeth, Persistence o...	OMIM:265800
Holoprosencephaly-Craniosynostosis Syndrome	Coxa valga, Holoprosencephaly, Clinodactyly of the 5th finger, Short distal phalanx of finger, Br...	ORPHA:2163
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused ...	OMIM:300166
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar...	OMIM:122470
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly	OMIM:615433
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Conical tooth, Persistence of primary teeth, Clinodactyly, De...	OMIM:618727
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Unde...	OMIM:614230
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Holoprosencephaly 11	Holoprosencephaly	OMIM:614226
Jacobsen Syndrome	Flat occiput, Micrognathia, Flexion contracture, Microcornea, Clitoral hypoplasia, Holoprosenceph...	OMIM:147791
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Genitopatellar Syndrome	Delayed eruption of teeth, Short palm, Wide nose, Hip contracture, Small scrotum, Prominent nasal...	ORPHA:85201
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Polyhydramnios, Micrognathia, Adrenal hypoplasia, Orofacial cleft, Absent na...	ORPHA:2166
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Submuco...	ORPHA:2250
Triploidy	Finger syndactyly, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation	ORPHA:3376
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Dehydration, Red...	ORPHA:289548
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Kyphosis,...	ORPHA:90322
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Dehydration, Reduced bone mineral densi...	ORPHA:168558
Gapo Syndrome	Keratoconus, Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, High, narro...	OMIM:230740
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Calcaneovalgus deformity, Hyper...	OMIM:615065
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, High palate, Choanal stenosis, Mi...	OMIM:259775
Ramon Syndrome	Delayed eruption of teeth, Diabetes mellitus, Telangiectasia of the skin, Abnormal dental enamel ...	ORPHA:3019
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Edema, Micrognathia, Cryptorchidism, Congestive heart failure, Cleft ...	ORPHA:2505
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Thick nasal alae, Micrognathia, Hydrocephalus, Abnormal brainstem morphology, Re...	ORPHA:163961
Focal Dermal Hypoplasia	Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ...	OMIM:305600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Brachycephaly, Downturned...	ORPHA:261494
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Short toe, Hydrocephalus, Anencephal...	OMIM:269860
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Cataract, Lumbar hyperlordosis, Optic nerve hypoplasia, Olivopontocerebe...	ORPHA:370959
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu...	OMIM:114300
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Oculodentodigital Dysplasia	Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger, Microdon...	OMIM:164200
Chromosome 13Q14 Deletion Syndrome	Single transverse palmar crease, Micrognathia, Deep philtrum, High palate, Holoprosencephaly, Cho...	OMIM:613884
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o...	ORPHA:84
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat...	ORPHA:397715
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retr...	OMIM:619981
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Holoprosencephaly, Radial club hand	ORPHA:2165
Trisomy 9P	Brachydactyly, Dental crowding, Abnormal nasal morphology, Kyphosis, Non-midline cleft lip, Abnor...	ORPHA:236
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Polyhydramnio...	OMIM:613406
4H Leukodystrophy	Delayed eruption of teeth, Cataract, Hypogonadotropic hypogonadism, Decreased response to growth ...	ORPHA:289494
Trichothiodystrophy 3, Photosensitive	Eclabion, Natal tooth, Cataract, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Devel...	OMIM:616395
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Turricephaly, Communicating hydrocephalus, Crumpled l...	ORPHA:2050
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen...	ORPHA:49042
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Prominent nasal bridge, Bilateral cryptorchidism, Downturned corners of ...	OMIM:618652
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Frontal bossing, Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal dental enamel m...	ORPHA:2273
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala...	ORPHA:1135
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl...	OMIM:616580
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Cataract, Proximal placement of thumb, Sclerocornea, Cryptorchid...	ORPHA:139471
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Bifid nasal tip, Unilateral microphthalmos, Bilateral clef...	OMIM:618874
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Flexion contracture, Glossoptosis, Hypoplasia of the brainstem, High palate, Anteve...	OMIM:254940
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum, Trigonocephaly, M...	OMIM:614583
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Elevated circulati...	OMIM:612462
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Absent nipple, Chronic irritative conjunctivitis, Cleft hard palate, ...	ORPHA:69085
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Micrognathia, Underdeveloped nasal alae, High, narr...	ORPHA:436003
Adams-Oliver Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Bulbous nose, Hydrocephalu...	OMIM:614219
Fryns Syndrome	Tented upper lip vermilion, Polyhydramnios, Micrognathia, High palate, Clinodactyly of the 5th fi...	ORPHA:2059
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact...	ORPHA:1788
Frontofacionasal Dysplasia	Cataract, Cleft upper lip, Underdeveloped nasal alae, Short nose, Brachycephaly, Orofacial cleft,...	OMIM:229400
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Ha...	ORPHA:2318
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly ...	OMIM:223370
Rothmund-Thomson Syndrome Type 2	Osteopenia, Long nose, Facial edema, Patellar hypoplasia, High palate, Microdontia, Juvenile cata...	ORPHA:221016
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly	OMIM:613094
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofac...	OMIM:300373
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Joint stiffness, Non-midline cleft lip,...	ORPHA:1915
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio...	OMIM:615873
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Brachycephaly, Anteriorl...	OMIM:612289
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Tricuspid regurgitation, Prominent nasal bridge, Prominent nose, Tapered f...	OMIM:619576
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach...	OMIM:157980
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Abnormal external genitalia, Polyhydramnios, Abnormal nostril ...	ORPHA:3469
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Prominent fingertip pads, Anteverted nares, Cleft soft palate, Broad hallux, Gingiv...	OMIM:618529
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Clitoral hypoplasia, Micropeni...	OMIM:616894
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Cataract, Prominent nasal bridge, Prominent nose, Abnorm...	ORPHA:627
Stromme Syndrome	Cataract, Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Optic ne...	OMIM:243605
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Abnormally large globe, Hypoplastic pubic bone, Gingiv...	OMIM:614592
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Agenesis of corpus callosum, ...	ORPHA:2538
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent...	ORPHA:324410
Kniest Dysplasia	Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collagen, Genu varu...	OMIM:156550
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr...	OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Hypoplasia of the brainstem, Congenital contract...	OMIM:236670
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Heart And Brain Malformation Syndrome	Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Polyhydramnios, High, narrow p...	OMIM:616920
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin...	ORPHA:2658
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Ring Chromosome 10 Syndrome	Frontal bossing, Aganglionic megacolon, Sandal gap, Micrognathia, Tapered finger, Wide nasal brid...	ORPHA:1438
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Cataract, Anteverted nares, Depressed nasal bridge, Optic nerve hypopl...	OMIM:222765
Joubert Syndrome 15	Ambiguous genitalia, Preaxial polydactyly, Exencephaly, Coloboma, Molar tooth sign on MRI, Microp...	OMIM:614464
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Palmar ...	ORPHA:77301
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Micromelia, Aplastic clavic...	OMIM:616546
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos...	OMIM:614669
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi...	OMIM:602535
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Advanced eruption of ...	ORPHA:404448
Charge Syndrome	Bifid scrotum, Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemi...	ORPHA:138
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Hypoplasia of the pons, Coloboma, High palate, Clinodactyly of the 5th finger, Synd...	OMIM:616975
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Polyhydramnios, Micrognathia, Ce...	OMIM:114290
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Single tra...	OMIM:614105
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Edema, Malabsorpt...	ORPHA:2315
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, D...	ORPHA:464288
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Thick nasal alae, Cleft soft palate, Prominent nose, Abnormal preputium morphology, Bulbous nose,...	ORPHA:293725
Marbach-Rustad Progeroid Syndrome	Femur fracture, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Reduced bone...	OMIM:619322
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Syndactyly, Hamart...	OMIM:311200
Meckel Syndrome	Anophthalmia, Sclerocornea, Micrognathia, Depressed nasal ridge, Microcornea, Encephalocele, Cryp...	ORPHA:564
Monosomy 9P	Proximal placement of thumb, Micrognathia, Brachycephaly, High palate, Agenesis of corpus callosu...	ORPHA:261112
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Coloboma,...	OMIM:268300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Coloboma, Microp...	ORPHA:324416
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E...	ORPHA:3107
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cataract...	OMIM:603457
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture, Micrognathia	OMIM:617562
Warburg Micro Syndrome 4	Small scrotum, Anteverted nares, Prominent nasal bridge, Narrow mouth, Cryptorchidism, Flexion co...	OMIM:615663
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Clinodactyly, Brachycephal...	OMIM:616789
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Clinoda...	OMIM:113620
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp...	OMIM:147250
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Flexion contracture, Developmental cataract, Abnormal left ventricular function, M...	OMIM:613155
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydrocephalus,...	ORPHA:3412
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Clinodactyly of the 5th...	OMIM:614701
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty...	OMIM:300963
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F...	ORPHA:2092
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Bifid uvula, Joint laxity, ...	OMIM:601552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo...	ORPHA:352665
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Micr...	OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,...	OMIM:300534
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Cataract, Corneal opacity, Hypoplasia of the maxilla, Abnormality of cartilage of exte...	ORPHA:2399
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Corneal opacity, Cataract, Kyp...	ORPHA:2962
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Frontal bossing, Bowing of the long bones, ...	ORPHA:2484
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra...	OMIM:601559
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Coloboma, Thor...	ORPHA:508498
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Flat occiput, Thin bony cortex, Re...	OMIM:264700
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla...	OMIM:620099
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Preaxial polydactyly, Coloboma, Hypogo...	ORPHA:141333
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Bilateral single transverse palmar creases, Micrognathia, Kyphosis, Type II dia...	ORPHA:3191
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma, Microcornea	OMIM:251505
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare...	OMIM:619879
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Brachycephaly, Downturned cor...	OMIM:611961
Cerebellofaciodental Syndrome	Cataract, Single transverse palmar crease, Tapered finger, Hypoplasia of the pons, Cryptorchidism...	OMIM:616202
Cerebrooculofacioskeletal Syndrome 4	Prominent nasal bridge, Rocker bottom foot, Micrognathia, Camptodactyly of finger, Kyphoscoliosis...	OMIM:610758
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Coloboma, Dolichocephaly, C...	OMIM:167730
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Depressed nasal bridge, Hydrocephalus, Polydactyly, Microphthalmia, Smo...	OMIM:602501
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, Anterio...	ORPHA:1225
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of...	OMIM:101400
Joubert Syndrome 1	Anteverted nares, Brainstem dysplasia, Protruding tongue, Clinodactyly, Optic disc coloboma, Post...	OMIM:213300
Atelis Syndrome 2	Frontal bossing, Remnants of the hyaloid vascular system, Single transverse palmar crease, Microg...	OMIM:620185
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Brachyce...	ORPHA:79500
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Restrictive Dermopathy 1	Polyhydramnios, Micrognathia, Adrenal hypoplasia, Flexion contracture, Overtubulated long bones, ...	OMIM:275210
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hip dislocation, Increased T3/T4 ratio, Congenital hypothyr...	OMIM:614450
Arachnoid Cyst	Encephalocele, Spinal cord compression, Spinal arachnoid cyst, Hydrocephalus, Abnormal spinal men...	ORPHA:2356
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Micrognathia, Hydrops fetalis, Distal shortening of limbs, Short metacarpal, Incr...	ORPHA:50945
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced ...	OMIM:300967
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Polyhydramnios, Calcaneovalgus deformity, Depressed nasal ...	OMIM:256520
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short metatarsal, Finger clinodactyly, Short philtrum, Micropeni...	ORPHA:2896
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Melkersson-Rosenthal Syndrome	Facial edema, Furrowed tongue	OMIM:155900
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ...	ORPHA:828
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Micrognathia, Depressed nasal ridge, Holoprosencephaly, Clinodactyly of the 5th f...	ORPHA:1052
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral fusion, Scapu...	OMIM:272460
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ridge, Metaphyse...	OMIM:300863
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Downturned corners of mouth, Coloboma, Oligodontia, Vertebral segmentation defect, Hi...	ORPHA:453499
Facial Clefting, Oblique, 1	Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia	OMIM:600251
Stickler Syndrome, Type I	Micrognathia, Osteoarthritis, Bifid uvula, Anteverted nares, Depressed nasal bridge, Arachnodacty...	OMIM:108300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nas...	ORPHA:306542
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Abnormal palmar dermatoglyphics, Cryptorchidism, Cleft palate, Hypoplasia of teeth...	ORPHA:2728
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Micrognathia, Deep phi...	ORPHA:534
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho...	ORPHA:798
Incontinentia Pigmenti	Abnormal hand morphology, Orofacial cleft, Spina bifida occulta, Finger syndactyly, Abnormal dent...	ORPHA:464
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Ch...	OMIM:280000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Neu-Laxova Syndrome	Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Polyhydramnios, Flexion contra...	ORPHA:2671
Zimmermann-Laband Syndrome 2	Underdeveloped nasal alae, Bifid nasal tip, Kyphosis, Deep philtrum, Gingival overgrowth, Macrogl...	OMIM:616455
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Micrognathia, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Abnormality of the dentition, Sclerocorne...	ORPHA:251038
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Molar tooth...	OMIM:615665
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Narrow mout...	ORPHA:1790
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ...	OMIM:618914
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Advanced eruption ...	ORPHA:769
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse...	OMIM:601957
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora...	ORPHA:952
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Foot oligodactyly, Triphalang...	OMIM:154400
1Q41Q42 Microdeletion Syndrome	Holoprosencephaly, Talipes equinovarus	ORPHA:250999
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Coloboma, High palate, Short philtrum, Clinod...	OMIM:309500
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Anteverted nares, Portal hypertension, Postaxial hand pol...	OMIM:216360
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the hand, Abnormality of the dentition, Micrognathia,...	ORPHA:476126
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Hydrocephalus, Subm...	ORPHA:899
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, narrow pal...	OMIM:214100
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Partial agenesis of the corpus callosum, Brachyce...	OMIM:135900
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge...	OMIM:620370
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Agenesis of corpus ...	OMIM:619194
Rothmund-Thomson Syndrome Type 1	Osteopenia, Facial edema, Patellar hypoplasia, Microdontia, Juvenile cataract, Short phalanx of f...	ORPHA:221008
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow...	ORPHA:263463
Acro-Renal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Hypoplasia of the ulna...	ORPHA:958
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Micrognathia, Long fingers, Brachycephaly, Cleft palate, Microcornea, Hig...	OMIM:156610
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Aplasia ...	ORPHA:1358
Pseudotrisomy 13 Syndrome	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Postaxial foot poly...	OMIM:264480
Microphthalmia, Syndromic 13	Kyphoscoliosis, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced...	OMIM:300915
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Ring Chromosome 22 Syndrome	Edema, Protruding tongue, Lymphedema, Bulbous nose, 2-3 toe syndactyly, Azoospermia, Large hands,...	ORPHA:1446
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Hypoplasia of the bra...	ORPHA:268261
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corner...	ORPHA:531151
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:617563
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Short philtrum, Abnormality of the uterus, Hypoplasia of the thymus...	ORPHA:567
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Developmental cataract, Microcornea, Mulberry m...	OMIM:302350
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, Broad proximal phalang...	OMIM:607597
Coffin-Siris Syndrome	Papillary thyroid carcinoma, Thick nasal alae, Agenesis of corpus callosum, Joint laxity, Antever...	ORPHA:1465
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm...	ORPHA:166100
Galloway-Mowat Syndrome 1	Flat occiput, Cataract, Narrow nasal ridge, Hiatus hernia, Micrognathia, Prominent nose, Slender ...	OMIM:251300
Fryns Syndrome	Bifid scrotum, Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar cr...	OMIM:229850
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ...	ORPHA:2588
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Polyhydramnios, Microglossia, Absent ...	ORPHA:990
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Single transverse palmar crease, Sclerocornea, Micrognathia, Adrenal...	OMIM:607932
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Precocious puberty, Short toe, Cone-shaped epiphyses of the p...	OMIM:619269
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm...	ORPHA:54595
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Peters anomaly, Microphthalmia, Clinodactyly, Ocular anterior segment dysge...	OMIM:610023
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Cataract, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Kyphoscolios...	OMIM:302960
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Edema, Mesomelic/rhizomelic limb shortening, Hypop...	ORPHA:2347
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Myopic astigmatism,...	OMIM:617802
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Broad nasal tip, Lower lip pit, Dental malocclusion, Hip...	OMIM:300867
Joubert Syndrome 32	Frontal bossing, Depressed nasal bridge, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617757
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Trig...	OMIM:616901
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t...	OMIM:617865
Cree Mental Retardation Syndrome	Bifid scrotum, Hypospadias, Cleft soft palate, Rocker bottom foot, Micrognathia, Cryptorchidism, ...	OMIM:606851
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia...	ORPHA:1473
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Prolonged QT interval, Increased bone mineral density, Cataract, Depre...	ORPHA:94089
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red...	ORPHA:740
3Q29 Microdeletion Syndrome	Cataract, Dental crowding, Prominent nasal bridge, Hypospadias, Abnormality of the dentition, Tap...	ORPHA:65286
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Frontal bossing, Lumbar hyperlordosis, Dental crowding, Vertebr...	ORPHA:313892
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Tapered finger, Long fingers, ...	ORPHA:521445
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Ectopia lentis	OMIM:272300
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Clitoral hypertrophy, Megalocornea, Hypoplastic ischia, Micrognathia, Bo...	ORPHA:313855
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulde...	OMIM:143095
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Frontal bossing, Trident pelvis, Short humerus, Short lingual frenulum, Depressed nasal bridge, B...	OMIM:619479
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Tapered finger, Precocious puberty, Thick lower lip ve...	ORPHA:261652
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Congestive heart failure, Hydrocephalus...	OMIM:309900
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Sandal gap, Joint hypermobility, Carious teeth, S...	OMIM:619229
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi...	OMIM:216400
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Dental crowding, Anophthalmia, Small scrotum, Orofacial clef...	ORPHA:2052
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Hydrops ...	ORPHA:268249
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypopl...	ORPHA:96149
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Female pseudohermaphroditism, Cryptorchidism, Short to...	ORPHA:1519
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, Vertebral segmentation defect, High palate, Agenesis of corpus callo...	ORPHA:2745
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Diastema, Slender finger, Bulbous nose...	ORPHA:329224
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Cataract, Cryptorchidism, Flexion contrac...	OMIM:614225
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Abnormal vertebral morphology, Sclerocornea, Esop...	ORPHA:77298
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Crypto...	OMIM:610125
Microtia-Anotia	Holoprosencephaly	OMIM:600674
X-Linked Dominant Chondrodysplasia Punctata	Frontal bossing, Abnormally ossified vertebrae, Cataract, Depressed nasal bridge, Kyphoscoliosis,...	ORPHA:35173
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Flat occiput, Osteomalacia, Irregular, rachitic-like ...	ORPHA:289157
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Frontal bossing, Increased bone mineral density, Cataract, Micrognathia, Microcornea, Coloboma, I...	OMIM:617306
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever...	OMIM:311900
Coach Syndrome 2	Hydrocephalus, Coloboma, Hypertension, Chorioretinal coloboma, Molar tooth sign on MRI, Agenesis ...	OMIM:619111
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Decrease...	ORPHA:1855
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Tethered cord, 1-2 toe syndactyly, P...	OMIM:107480
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Frontal bossing, Crumpled long bones, Joint laxity, Corneal opacity, Isosexual precoc...	ORPHA:2788
Aicardi Syndrome	Prominence of the premaxilla, Cataract, Anteverted nares, Block vertebrae, Spina bifida, Cleft up...	OMIM:304050
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Single transverse palmar crea...	OMIM:613443
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Clinodactyly of the 5th fin...	OMIM:601163
Proboscis Lateralis	Anophthalmia, External genital hypoplasia, Single naris, Orofacial cleft, Abnormality of the maxi...	ORPHA:141099
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, Wide nasal bridge,...	OMIM:618356
Joubert Syndrome 16	Encephalocele, Coloboma, Polydactyly, Molar tooth sign on MRI	OMIM:614465
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Mitral regurgitation, ...	ORPHA:3238
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasi...	ORPHA:468631
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Amoebiasis Due To Free-Living Amoebae	Abnormality of taste sensation, Sinusitis, Abnormal medulla oblongata morphology, Abnormal midbra...	ORPHA:68
Joubert Syndrome 7	Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu...	OMIM:611560
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Partial agenesis of the corpus callosum, Decreased fertility, Hypoplasia of tee...	OMIM:234050
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Hypoplasia of the pons, Hydrocephalus, Coloboma, Hypoplasia of the bra...	OMIM:613153
Joubert Syndrome 3	Anteverted nares, Elongated superior cerebellar peduncle, Wide nasal bridge, Lateral ventricle di...	OMIM:608629
Orofaciodigital Syndrome V	Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, H...	OMIM:174300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, Bilateral coxa valga, Bif...	OMIM:615582
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyper...	OMIM:262190
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Anophthalmia, Cutaneous finger ...	OMIM:219000
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Small scrotum, Depressed nasal bridge, Hypospadias, Microgn...	OMIM:616734
Pancreatic Agenesis-Holoprosencephaly Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the phalanges of the thumb, Holoprosenceph...	ORPHA:556955
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Achondroplasia	Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi...	OMIM:100800
Abruzzo-Erickson Syndrome	Coloboma, Radioulnar synostosis, Hypospadias, Cleft palate	OMIM:302905
Down Syndrome	Depressed nasal ridge, Brachycephaly, Downturned corners of mouth, Clinodactyly of the 5th finger...	ORPHA:870
Agnathia-Otocephaly Complex	Holoprosencephaly	OMIM:202650
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Pulmonary arterial hypertension, Long philtrum, Microphthalmia, Short nose, Agenesis ...	OMIM:300887
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Cowden Syndrome 5	Colonic diverticula, Cataract, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis...	OMIM:615108
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Facial edema, Reduced bone mineral density, Microdontia, Ju...	ORPHA:2909
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, Micrognathia, Coloboma, High palate, Joint laxity, Syndactyly, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, Micrognathia, Coloboma, High palate, Joint laxity, Syndactyly, A...	ORPHA:353277
Joubert Syndrome 40	Molar tooth sign on MRI, Depressed nasal bridge, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Abno...	ORPHA:2636
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Microphthalmia	OMIM:601794
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Brachycepha...	OMIM:612474
Cowden Syndrome 6	Colonic diverticula, Cataract, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis...	OMIM:615109
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Synostosis...	ORPHA:289
Cockayne Syndrome Type 1	Mandibular prognathia, Anophthalmia, Cataract, Foot joint contracture, Delayed eruption of primar...	ORPHA:90321
Halperin-Birk Syndrome	Hip dislocation, Talipes equinovarus, Death in childhood, Umbilical hernia, Intrauterine growth r...	OMIM:618651
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin ...	ORPHA:8
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Short fourth metatarsa...	OMIM:619841
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t...	OMIM:214800
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Depressed nasa...	OMIM:300990
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau...	OMIM:272950
Desmosterolosis	Frontal bossing, Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, ...	ORPHA:35107
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma, Agenesis of corpus callosum	OMIM:274270
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Brachycephaly, Downturned corners of mouth, Hypoplasia of the ...	OMIM:264090
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Sclerocornea, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Agenesi...	ORPHA:2556
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormally large globe, Abnormal tongue morphology, Insulin-resist...	ORPHA:2457
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Cataract, Epiphyseal stippling	OMIM:614876
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Decreased skull ossification, Slender long bone, Aniridia, Micr...	OMIM:602361
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cat-Eye Syndrome	Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Anal atresia, Intrauterine ...	ORPHA:195
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis	OMIM:617105
Ramos-Arroyo Syndrome	Frontal bossing, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious teeth, ...	ORPHA:1051
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Pylo...	ORPHA:457279
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Supernu...	ORPHA:1236
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
16P13.11 Microdeletion Syndrome	Metatarsus valgus, Camptodactyly of finger, Holoprosencephaly, Talipes equinovarus	ORPHA:261236
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Cataract, Abnormal dental enamel morphology, Abnor...	ORPHA:2238
Joubert Syndrome 9	Encephalocele, Cataract, Astigmatism, Scoliosis, Molar tooth sign on MRI	OMIM:612285
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Wide pe...	ORPHA:3455
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur...	OMIM:619950
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Cataract, Rocker bottom foot, Spina bifida, Micrognathia, Edem...	OMIM:616038
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Oligodontia, Hypodontia, Delayed puberty	ORPHA:447896
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short ...	OMIM:302950
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Edema, Micrognathia, Short metatarsal, High palate, Widely spaced teeth, Microdontia,...	OMIM:266920
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, Micro...	ORPHA:2322
Microtia	Holoprosencephaly	ORPHA:83463
Hennekam Syndrome	Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Finger syndactyly, ...	ORPHA:2136
Genitopatellar Syndrome	Congenital hip dislocation, Small scrotum, Polyhydramnios, Micrognathia, Prominent nose, Knee fle...	OMIM:606170
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Narrow mouth, Ankylosis, Dental malocclusion, Cleft palate, Anteri...	OMIM:602483
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Short metacarpal, Cleft upper lip, Brachycephaly, Cleft pala...	OMIM:201180
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares,...	ORPHA:2886
Achondrogenesis, Type Ii	Microretrognathia, Frontal bossing, Absent vertebral body mineralization, Broad long bones, Edema...	OMIM:200610
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Arachnodactyly, L...	ORPHA:2759
Congenital Fibrinogen Deficiency	Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Micropenis, Developmental cataract, C...	ORPHA:335
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Diabetes mellitus, Dysmenorrhea, Narrow nasal ridge, Micrognathia, Decreased adiponectin level, D...	ORPHA:280365
Joubert Syndrome 27	Molar tooth sign on MRI, Frontal bossing, Thick lower lip vermilion, Polydactyly	OMIM:617120
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Cataract, Depressed nasal bridge, Craniosynostosis, Micrognathia, Tapered finger...	OMIM:620005
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Single transverse palmar crease, Joint hypermobili...	OMIM:617804
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Peters anomaly, Microphthalmia, Broad thumb,...	OMIM:614526
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos, Coloboma, Vaginal fistula, An...	OMIM:619318
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K...	ORPHA:496689
Trichothiodystrophy	Osteopenia, Multiple joint contractures, High, narrow palate, Partial agenesis of the corpus call...	ORPHA:33364
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Hypoplastic sweat glands, Cleft palate, Palmar hyperlinearity, Concave nasal ridge, ...	OMIM:617337
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Hypospadias, Cryptorchidism, Bulbous nose, Submuco...	OMIM:619103
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Macrodontia, Prominent nasal bridge, Proximal placement of thu...	OMIM:212066
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired myocardial cont...	ORPHA:158687
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu...	OMIM:604757
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Abnormal dental morphology, Micrognath...	ORPHA:369950
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:411493
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont...	OMIM:614381
Craniotelencephalic Dysplasia	Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, M...	ORPHA:1528
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Malabsorption, Flexion contracture, Telangiectasia, Microcornea...	OMIM:601675
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Supernumerary nipple, Micrognathia, Submucous cleft hard pala...	OMIM:619122
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxia...	OMIM:258850
Schilbach-Rott Syndrome	Hypospadias, Prominent nose, Micrognathia, Long nose, 2-3 toe cutaneous syndactyly, Submucous cle...	OMIM:164220
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Branchio-Oculo-Facial Syndrome	Cataract, Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Wide ...	ORPHA:1297
Anti-Glomerular Basement Membrane Disease	Arthritis, Vasculitis, Persistence of primary teeth	ORPHA:375
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni...	ORPHA:1071
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg...	ORPHA:440354
Brachycephaly, Trichomegaly, And Developmental Delay	Flat occiput, Depressed nasal bridge, Single transverse palmar crease, Supernumerary tooth, Submu...	OMIM:617412
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi...	ORPHA:1587
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri...	ORPHA:93325
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Cataract, Gastrointestinal hemorrhage, Portal hy...	ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Cataract, Remnants of the hyaloid vascular system, Optic nerve hy...	OMIM:614643
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Hypoplasia of the ra...	OMIM:184705
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Ab...	OMIM:163200
Kapur-Toriello Syndrome	Hypoplasia of penis, Intestinal malrotation, Dysplastic corpus callosum, Bulbous nose, Orofacial ...	ORPHA:2328
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Persistence of primary teeth, Recurrent upper respiratory tract i...	OMIM:619769
Cowden Syndrome 1	Colonic diverticula, Cataract, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis...	OMIM:158350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi...	ORPHA:1352
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Delayed epiphyseal ossifica...	ORPHA:485
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Thin upper lip vermilion, Wide nose, Dental crowding, Broad hallux, Sandal gap, ...	OMIM:616078
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Microcornea, Anterior synechiae of t...	ORPHA:3214
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ...	ORPHA:2928
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, High palate, Foot o...	OMIM:276820
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Cranial h...	ORPHA:330015
Cardiofaciocutaneous Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormal morphology of ulna, Lymphedem...	ORPHA:1340
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Thoracic scoliosis, Sing...	ORPHA:508488
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Brachycephaly, Anteriorly...	ORPHA:1299
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p...	OMIM:601707
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Micrognathia, Accessory oral frenulum, Postaxial polydactyly...	OMIM:258860
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Abnormally ossi...	ORPHA:94068
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Malabsorption...	ORPHA:50
Microphthalmia, Syndromic 3	Frontal bossing, Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hy...	OMIM:206900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Abnormal pupil morpholo...	ORPHA:261552
Fanconi Anemia, Complementation Group L	Micrognathia, Absent thumb, Esophageal atresia, Hydrocephalus, Absent radius, Tracheoesophageal f...	OMIM:614083
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, Prominent nose, High palate, Agenesis of corpus callosu...	OMIM:619488
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Calcaneovalgus deformit...	ORPHA:261537
Joubert Syndrome 28	Molar tooth sign on MRI, Wide nasal bridge, Joint laxity	OMIM:617121
Coffin-Siris Syndrome 11	Frontal bossing, Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Sma...	OMIM:618779
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Edema, Hiatus hernia, Micrognathia, Hip dislocation, Hypertensio...	OMIM:617729
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Broad nasal ti...	ORPHA:2834
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Coloboma, Joint laxity, Broad hallux, Hypospadias, Cryptorchidism, Supernumerary...	ORPHA:353281
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Microform Holoprosencephaly	Intrauterine growth retardation, Holoprosencephaly	ORPHA:280200
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi...	ORPHA:296
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermap...	ORPHA:2282
Distal Deletion 15Q	Flat occiput, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Genera...	ORPHA:1596
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Small sc...	OMIM:601803
Frontonasal Dysplasia 3	Underdeveloped nasal alae, Wide nasal bridge, Brachycephaly, Cleft palate, Microphthalmia	OMIM:613456
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Biparietal narrowing, Cho...	ORPHA:2031
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Joubert Syndrome 35	Anteverted nares, Single transverse palmar crease, Depressed nasal bridge, Molar tooth sign on MR...	OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Hydrocephalus, Flexion contracture, Coloboma, Hypoplasia of the...	OMIM:615249
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Anteverted nares, Thick lower lip vermilion, Wide nasal bri...	ORPHA:1942
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa...	OMIM:180900
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Lissencephaly 8	Occipital encephalocele, Cataract, Hypoplasia of the brainstem, Talipes equinovarus, Microphthalmia	OMIM:617255
Smith-Lemli-Opitz Syndrome	Death in infancy, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus, ...	OMIM:270400
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Micro...	ORPHA:261272
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dila...	OMIM:300952
Velocardiofacial Syndrome	Hypoparathyroidism, Posterior embryotoxon, Abnormality of the hand, Underdeveloped nasal alae, Cr...	OMIM:192430
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Thin upper lip vermilion, Exaggerated cupid's bow, Optic disc hypoplasia, Flexion contracture, Wi...	OMIM:619306
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha...	ORPHA:363741
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o...	ORPHA:3186
Familial Partial Lipodystrophy, Dunnigan Type	Diabetes mellitus, Dysmenorrhea, Congestive heart failure, Secondary amenorrhea, Polycystic ovari...	ORPHA:2348
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Sclerocornea, Anteriorly placed anus, Histiocytoid cardiomyopath...	OMIM:309801
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Calcaneovalgus deformit...	ORPHA:2152
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb...	ORPHA:1553
Hydrolethalus Syndrome 1	Polyhydramnios, Micrognathia, Severe hydrocephalus, Agenesis of corpus callosum, Hypospadias, Bif...	OMIM:236680
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Tricuspid regurgitation, No...	ORPHA:508542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Cleft upper lip, Peters anomaly, Hydrocephalus, Cleft palate, Buphthalmo...	OMIM:613150
Cockayne Syndrome	Congenital contracture, Lentiglobus, Abnormal dental morphology, Cryptorchidism, Agenesis of perm...	ORPHA:191
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:619503
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Vexas Syndrome	Arteritis, Nasal chondritis, Chondritis of pinna, Arthritis	OMIM:301054
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbow dislocation...	ORPHA:2804
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Lobar holoprosencephaly, Neonatal death, Intrauterine growth retardation, Hitchhiker thumb, Semil...	OMIM:618500
Carney Complex	Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O...	ORPHA:1359
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Long nose, Oligodontia, Humeral pseudarthrosis, Short philtrum, Microd...	ORPHA:2044
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late...	OMIM:613954
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Mowat-Wilson Syndrome	Bifid scrotum, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Agenesis of corpus callo...	OMIM:235730
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten...	OMIM:241310
Boomerang Dysplasia	Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti...	OMIM:112310
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth, Breast ...	ORPHA:1231
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Osteoporosis, Joint hyperflexibility, Platyspondyly, Th...	ORPHA:85194
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Micrognathia, Ly...	OMIM:153400
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Osteoporosis, Telangi...	OMIM:235200
Bohring-Opitz Syndrome	Micrognathia, Coloboma, Congenital contracture, Agenesis of corpus callosum, Prominent palatine r...	ORPHA:97297
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Cranial hyperostosis, Hypoplastic sweat glands, Oligodontia, Hypodontia	OMIM:601345
Neuronal Intestinal Pseudoobstruction	Natal tooth, Malabsorption	ORPHA:99811
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Polyhydramnios, Abnormal ...	OMIM:200600
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Hypoplasia of penis, Flat occiput, Anteverted nares, Protruding tongue, Cry...	ORPHA:96147
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Chorioretinal colobo...	ORPHA:959
Amish Lethal Microcephaly	Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Osteoporosis, Decrea...	ORPHA:99742
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th finger, Bilateral ...	ORPHA:488642
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Shou...	OMIM:606070
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Depressed nasal bridge, Brachycephaly, Coloboma, Microphthalmia	OMIM:612379
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten d...	OMIM:609638
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Pelvis-Shoulder Dysplasia	Hypoplastic scapulae, Congenital hip dislocation, Lumbar hyperlordosis, Hypoplastic ilia, Optic d...	OMIM:169550
Nanophthalmos	Microphthalmia	ORPHA:35612
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Neuroocular Syndrome	Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Microcornea,...	OMIM:619539
Oculoauricular Syndrome	Posterior embryotoxon, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcorne...	OMIM:612109
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Cataract, Cryptorchidism	OMIM:613730
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Ascites, Intrauterine growth retardation	ORPHA:858
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl...	ORPHA:2554
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Polyhydramnios, Vertebral segmentation defect, Narrow greater sciatic notc...	OMIM:312870
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta...	OMIM:619227
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Submucou...	OMIM:613805
Ring Chromosome 7 Syndrome	Single transverse palmar crease, Small hand, Genu valgum, Short 5th finger, Severe intrauterine g...	ORPHA:1449
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Camptodactyly of finger, Polyhydramnios, Micrognathia, Pr...	ORPHA:3047
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Micropenis, Hypospadias, Tapered finger, Cryptorchidism, Short toe, Abnormal brai...	ORPHA:464311
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Absent or minimally ossified vert...	ORPHA:93271
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finge...	OMIM:607872
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Palmoplantar keratoderma, Hypodontia, Enamel hyp...	OMIM:616029
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Choanal atresia, Cleft upper lip, Micrognathia, Absen...	OMIM:273395
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation...	ORPHA:64
Hartnup Disorder	Glossitis	OMIM:234500
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin...	ORPHA:1145
Coffin-Siris Syndrome 12	Micrognathia, High palate, Hypothyroidism, Joint laxity, Anteverted nares, Depressed nasal bridge...	OMIM:619325
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Small scrotum, Micrognathia, Widely-spaced maxillary central incisors...	OMIM:309580
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology	ORPHA:2590
Japanese Encephalitis	Abnormal substantia nigra morphology, Stiff neck, Abnormal midbrain morphology, Elbow flexion con...	ORPHA:79139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brains...	OMIM:615181
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Cataract, Supernumerary nipple, Conical tooth...	OMIM:308300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Abnormality of the hand	OMIM:221770
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Absent radius, Rectal atresi...	OMIM:115470
Maternal Phenylketonuria	Anteverted nares, Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia, Wide nasal...	ORPHA:2209
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Brachycep...	OMIM:301072
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Elevated jugular venous pressure, Diabetes mellitu...	ORPHA:465508
Native American Myopathy	Joint laxity, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth, Congenital...	ORPHA:168572
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Joubert Syndrome 20	Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Solar Urticaria	Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology, Syncope	ORPHA:97230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the brainstem, Hypopl...	OMIM:253280
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Microphthalmia, Agenesis of corp...	OMIM:218670
Hartsfield Syndrome	Syndactyly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Semilobar holoprosen...	OMIM:615465
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor...	OMIM:609053
Holoprosencephaly 14	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Alobar holoprosencephaly	OMIM:619895
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Alobar holoprosenc...	OMIM:301043
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Hypoplasia of the brainstem, Partial agenesis of the corpus callosum	OMIM:615771
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Polyhydramnios, Micrognathia, Decreased skull ossificati...	ORPHA:1662
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Microphthalmia, Isolated 5	Microphthalmia, Cataract, Cystoid macular edema	OMIM:611040
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Tapered finger, Small hand, Short foot, Hip dysplasia, Camptoda...	OMIM:301044
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory t...	OMIM:618183
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Kyphosis,...	ORPHA:324737
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Open bite, Joint hyperfle...	ORPHA:2907
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar keratoderma, Palmoplantar h...	ORPHA:2309
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Frontal bossing, Cataract, Hypoplasia of the nasal bone, Knee flexion contractur...	OMIM:118650
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Abnormality of the endocrine s...	OMIM:129550
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Myotonic Dystrophy 1	Atrial flutter, Cataract, Atrial fibrillation, Polyhydramnios, First degree atrioventricular bloc...	OMIM:160900
Teeth Present At Birth	Natal tooth	OMIM:187050
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin...	OMIM:110100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Anteverted nares, Abnormal midbrain morphology, Depressed nasal bridge, Decreased response to gro...	ORPHA:293987
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Agenesis of corpus callos...	OMIM:613091
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia, Micropenis	OMIM:308350
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola...	OMIM:309800
Immunodeficiency 49	Natal tooth, Micrognathia, Short philtrum, Umbilical hernia, Agenesis of corpus callosum	OMIM:617237
Congenital Varicella Syndrome	Microphthalmia, Cataract, Micromelia, Intrauterine growth retardation	ORPHA:291
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Joubert Syndrome 33	Molar tooth sign on MRI, Syndactyly	OMIM:617767
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Er...	ORPHA:206448
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Holzgreve Syndrome	Turricephaly, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morpholog...	ORPHA:2167
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, Sclerocornea, Cataract, Precocious puberty, 2-3 toe syndac...	OMIM:615877
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima...	ORPHA:667
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe...	OMIM:609583
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Th...	ORPHA:2785
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Depressed nasal bridge, Protruding tongue, Micrognathia, Malabsorpti...	OMIM:242860
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Osteopenia, Hypopituitarism, Sinusitis, Diabetes mellitus, Decreased r...	ORPHA:811
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Tongue atrophy, Shoulder girdle muscle weakness, Retinal telangiectasia	OMIM:158900
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Broad hallux, Protru...	OMIM:617062
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Nanophthalmos 4	Microphthalmia	OMIM:615972
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Congenital Rubella Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalm...	ORPHA:290
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw, Bowing of th...	ORPHA:199276
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Mic...	ORPHA:1806
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft...	OMIM:154500
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Prominent nose, Precocious puberty, Submucous cleft hard palate, Sc...	OMIM:618971
Cerebrocostomandibular Syndrome	Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s...	OMIM:117650
Cronkhite-Canada Syndrome	Intestinal polyposis, Cataract, Malabsorption, Tapered finger, Lymphedema, Hypogeusia, Furrowed t...	ORPHA:2930
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bif...	ORPHA:2461
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hypothyro...	ORPHA:79259
Perlman Syndrome	Distal ileal atresia, Tented upper lip vermilion, Everted upper lip vermilion, Depressed nasal br...	OMIM:267000
Joubert Syndrome 30	Molar tooth sign on MRI, Postaxial hand polydactyly	OMIM:617622
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Depressed nasal bridge, Overlapping toe, Protruding ...	ORPHA:99843
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Protruding tongue, Malabsorption, Micrognath...	ORPHA:2268
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosis, Hip dislocation,...	OMIM:309000
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly ...	ORPHA:2001
Rodrigues Blindness	Narrow nasal bridge, Sclerocornea, Microcornea, Microphthalmia, Tooth malposition	OMIM:268320
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Odontomicronychial Dysplasia	Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit...	ORPHA:1811
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus, Scoliosis	OMIM:616155
Phakomatosis Pigmentokeratotica	Spina bifida, Lymphedema, Precocious puberty, Cryptorchidism, Raynaud phenomenon, Coloboma, Pheoc...	ORPHA:2874
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Hyd...	OMIM:619321
Deafness-Craniofacial Syndrome	Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae,...	ORPHA:3241
Fanconi Anemia, Complementation Group R	Anal atresia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Scoliosis, Microphthalmia...	OMIM:617244
Wilson Disease	Hypoparathyroidism, Osteomalacia, Edema, Osteoarthritis, Esophageal varix, Osteoporosis, Pedal ed...	OMIM:277900
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, M...	ORPHA:140936
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Polyhydramnios, Absent thumb, Short thumb,...	OMIM:603467
Diamond-Blackfan Anemia	Depressed nasal bridge, Cleft soft palate, Hypospadias, Micrognathia, Absent thumb, Cleft lip, Sh...	ORPHA:124
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Arima Syndrome	Brainstem dysplasia, Postaxial hand polydactyly, Esophageal varix, Wide mouth, Postaxial foot pol...	OMIM:243910
Cockayne Syndrome Type 3	Cataract, Carious teeth, Kyphosis, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, ...	ORPHA:90324
Cerebrocostomandibular Syndrome	Spina bifida, Micrognathia, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Cleft palate...	ORPHA:1393
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Cor...	ORPHA:649
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Bulbous nose, Postaxial h...	ORPHA:2752
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence...	OMIM:620183
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,...	ORPHA:2736
Joubert Syndrome 6	Hypoplasia of the brainstem, Bile duct proliferation, Chorioretinal coloboma, Molar tooth sign on...	OMIM:610688
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Holoprosencephaly 3	Holoprosencephaly	OMIM:142945
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Arachnodactyly, Hydrocephalus, Abnormal brainstem morphology, Ocular albinism, Reduced ...	ORPHA:2720
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Single transverse palmar crease, High, narrow palate, Coloboma, High palate, Short...	OMIM:619475
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Protruding t...	OMIM:619777
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Ramon Syndrome	Delayed eruption of teeth, Enlarged labia minora, Kyphosis, Gingival fibromatosis, Narrow palate,...	OMIM:266270
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ...	OMIM:301845
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Chorioreti...	ORPHA:857
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Wide nasal bridge, Hypoplas...	OMIM:601186
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Small hand, Leukocoria, C...	ORPHA:2714
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Scoliosis	OMIM:601596
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
Refsum Disease	Short metacarpal, Cataract, Heart block, Anosmia, Cardiomyopathy, Hammertoe, Abnormal epiphysis m...	ORPHA:773
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Bilateral microphthalmos, Lateral ventricle dilatation, Atrophy/Degener...	ORPHA:77299
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Hydrops fetalis, Micropenis, Tricuspid regurgitation, Hamartoma of tongue, Polysyn...	OMIM:263520
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Isolated Exencephaly	Holoprosencephaly	ORPHA:563612
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Microphthalmia, Ocular anterior segme...	OMIM:615145
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Microphthalm...	OMIM:613001
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Micrognathia, High, narrow palate, Genera...	OMIM:619472
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Single transverse palmar crease, High palate, Microphthalmia, Hypertrophic cardiomyopathy, Oligoh...	OMIM:619053
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle atrophy, Abnor...	OMIM:205100
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Abn...	ORPHA:1839
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Narrow mouth, Microphtha...	OMIM:614833
Okamoto Syndrome	Tented upper lip vermilion, Abnormally large globe, Downturned corners of mouth, Exaggerated medi...	ORPHA:2729
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Abnormal pelvic girdle bone morphology, Carpal bone hypop...	OMIM:601162
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S...	OMIM:192445
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, S...	OMIM:227646
Holoprosencephaly 1	Diabetes insipidus, Proboscis, Alobar holoprosencephaly, Adrenal hypoplasia, Micropenis, Aplasia ...	OMIM:236100
Wolfram Syndrome 1	Diabetes mellitus, Cataract, Diabetes insipidus, Limited mobility of proximal interphalangeal joi...	OMIM:222300
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl...	OMIM:617666
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Hyperlordosis, Intrinsic hand muscle atrophy, Tongue fasciculat...	OMIM:620285
Myopathy, Myofibrillar, 7	Tongue atrophy, Lumbar hyperlordosis, Multiple joint contractures, Shoulder flexion contracture, ...	OMIM:617114
Joubert Syndrome 38	Frontal bossing, Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decre...	OMIM:619476
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Abnormal brainstem MRI signal inte...	ORPHA:258
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations	OMIM:614678
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis, Oral leu...	OMIM:167210
Sotos Syndrome	No permanent dentition, Flexion contracture, Pedal edema, Hypothyroidism, Abnormal vertebral morp...	ORPHA:821
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Cataract, Lymphedema, Macular edema, Reduced bone mineral density, Vitreo...	ORPHA:891
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Adrenocortical carcin...	ORPHA:79665
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul...	ORPHA:500150
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Absent mesencephalon, Bifid ...	OMIM:601374
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Agenesis of corpus callosum, Abnormal brainstem morphology	ORPHA:255182
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Cleft Lip And Alveolus	Abnormal nasal morphology, Abnormal nasal septum morphology, Hypodontia, Lip pit	ORPHA:141291
Marcus-Gunn Syndrome	Choanal atresia, Cleft lip, Cleft palate, Abnormality of the sense of smell, Coloboma	ORPHA:91412
Esophageal Atresia	Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Choanal atresia, Polyhydr...	ORPHA:1199
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilatation, Abnormal brain...	ORPHA:300573
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract, Reduced systolic function, Dilated cardiomyopathy	OMIM:618805
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno...	ORPHA:733
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Oral leukoplakia	OMIM:618165
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Malabsorption, Glossoptosis, Arthritis, Conjunctivitis	ORPHA:47
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Joubert Syndrome 5	Occipital encephalocele, Cleft palate, Retinal coloboma, Molar tooth sign on MRI, Thickened super...	OMIM:610188
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormality ...	ORPHA:2470
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Imperforate hymen, Cleft pa...	OMIM:100300
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Papillorenal Syndrome	Joint laxity, Cataract, Edema, Lens luxation, Optic disc coloboma, Hypertension, Retinal coloboma...	OMIM:120330
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Flexion...	OMIM:227645
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Abnormal cartilage morphology, Bone cyst, Osteolysis,...	ORPHA:2396
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Split hand, Split foot, Hand polydactyly, Semilobar holoprosencephaly	OMIM:129900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of...	OMIM:175500
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Cataract, Palpebral edema, Abnormality of the dentition, Hypertension,...	ORPHA:2036
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Oral leukoplakia	OMIM:613987
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Lymphedema, Abnormal brainstem morphology, Telangiectasia, Hypertroph...	ORPHA:79279
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Periorbital edema, Corneal astigmatism, Nasal congestion, Devi...	ORPHA:141083
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Cataract, Kyphoscoliosis, Hand muscle we...	ORPHA:99956
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col...	OMIM:175100
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor...	OMIM:612292
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Joubert Syndrome 17	Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Cataract, Edema, Lymphedema, Wide nasal bridge, Thick ...	ORPHA:2526
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Delayed eruption of primary teeth, Astigmatism, Widely spaced teeth, Midface ret...	OMIM:617799
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Li...	OMIM:164210
Cowden Syndrome	Hamartomatous polyposis, High palate, Abnormality of the uterus, Conjunctival hamartoma, Abnormal...	ORPHA:201
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal wi...	OMIM:259770
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology, Holoprosencephaly	ORPHA:95494
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Microsporidiosis	Sinusitis, Osteomyelitis, Keratitis, Myocarditis, Abnormality of the parathyroid gland, Prostatit...	ORPHA:2552
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Joint stiffness, Recurrent pha...	ORPHA:397
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Kyphoscoliosis, Microcorn...	OMIM:614557
Linear Nevus Sebaceus Syndrome	Frontal bossing, Prominent occiput, Plagiocephaly, Vertebral segmentation defect, Adenoma sebaceu...	ORPHA:2612
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac...	ORPHA:276244
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, O...	ORPHA:101085
Agel Amyloidosis	Tongue atrophy, Cataract, Edema, Xerostomia, Cardiomyopathy, Keratoconjunctivitis sicca, Blepharo...	ORPHA:85448
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Hyphema, Leuk...	OMIM:221900
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele	OMIM:612291
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Vitreoretinochoroidopathy	Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhage, Retinal neovascul...	OMIM:193220
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Edema, Polyhydramnios, Aqueductal stenosis, Coloboma, ...	OMIM:619534
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt...	OMIM:227650
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Hypoplasia of the uterus, Microphthalmia, Agenesis of corpus callosum, Va...	OMIM:617914
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microph...	OMIM:600901
Sting-Associated Vasculopathy, Infantile-Onset	Nasal septum perforation, Raynaud phenomenon, Joint stiffness, Telangiectasia	OMIM:615934
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology	ORPHA:467166
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Elbow flexion contracture, Corneal scarring, Furrowed tongue, Knee flexion contracture...	OMIM:148210
Enamel-Renal Syndrome	Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ...	ORPHA:1031
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Elevated circulating parathyroid hormone level, Pheochromocytoma,...	ORPHA:653
Deafness, X-Linked 7	Unilateral microphthalmos, Wide nasal bridge	OMIM:301018
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage,...	ORPHA:79282
Down Syndrome	Short palm, Joint laxity, Aganglionic megacolon, Single transverse palmar crease, Sandal gap, Pro...	OMIM:190685
Congenital Fibrosis Of Extraocular Muscles	Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hand oligodactyly, Plagiocephaly...	ORPHA:45358
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se...	OMIM:157640
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnor...	ORPHA:88619
Spinocerebellar Ataxia Type 1	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:98755
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue...	ORPHA:79396
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Cataract...	OMIM:609049
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Tongue atrophy, Kyphosis, Tongue fasciculations, Scoliosis	OMIM:211530
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Joint contracture of the 5th finger, Postaxial ...	OMIM:619562
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar hyperkeratosis, Conical i...	OMIM:257980
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Elongated superior cerebellar peduncle, Abnormal brainstem morphology	ORPHA:370022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus, Cataract	OMIM:616538
Melkersson-Rosenthal Syndrome	Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macroglossia	ORPHA:2483
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Cleft soft palate, Intestinal malrotation, Portal h...	OMIM:301068
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Osteopetrosis, Unilateral microphthalmos	OMIM:615085
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber, Retinal neovascularization	OMIM:305390
Acrodermatitis Enteropathica	Malabsorption, Corneal erosion, Cheilitis, Abnormality of the tongue, Furrowed tongue, Conjunctiv...	ORPHA:37
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Hypovolemia, Dehydration, R...	ORPHA:47159
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis...	OMIM:277380
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Mucoepithelial Dysplasia, Hereditary	Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue, Melena, Opacification ...	OMIM:158310
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Cleft palate, Stomatitis, Intrauterine growth retardation, Glossitis	ORPHA:79284
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Anisocoria, Hip dysplasia, Hammertoe, Tongue fasciculations, Scoliosis, Difficult...	ORPHA:99949
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Pedal edema, Arthritis, Geographic tongue	ORPHA:247353
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h...	ORPHA:231160
Glucagonoma	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus,...	ORPHA:97280
Lesch-Nyhan Syndrome	Hip dislocation, Podagra, Testicular atrophy	OMIM:300322
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging	OMIM:614298
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ...	OMIM:278730
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Agenesis of corpus...	ORPHA:42775
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Hypogonadism	OMIM:610651
Kawasaki Disease	Pericarditis, Edema, Recurrent pharyngitis, Congestive heart failure, Vasculitis, Myocarditis, Ch...	ORPHA:2331
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Tongue atrophy, Flexion contracture of finger, Cataract,...	ORPHA:466768
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Psoriasis 14, Pustular	Oligoarthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Abnormal pons morphology, Cataract, Abnormal brainstem morphology	ORPHA:370997
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Developmental cataract, Microphthalmia, Thick...	OMIM:127000
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Hydrocephalus, Polycoria, Retinal hemorrhage, Developmental...	OMIM:175780
Imerslund-Gräsbeck Syndrome	Tachycardia, Glossitis, Angular cheilitis	ORPHA:35858
Phace Association	Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua...	OMIM:606519
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Plague	Chapped lip, Tachycardia, Edema, Hematemesis, Abnormality of the elbow, Enterocolitis, Arthritis,...	ORPHA:707
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Hypertension, Impotence, Hypotension, Hypothyroidism	ORPHA:93256
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Pachyonychia Congenita 3	Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l...	OMIM:615726
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Male pseudohermaphroditism, Increased skull ossif...	ORPHA:1422
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Male pseudohermaphroditism, Optic disc coloboma, Hypoplasia of the ...	OMIM:600092

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 Hhat

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 Hhat.

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

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MGI Allele	Allele Type	Produced
Hhat^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue

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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