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Gene: Six1 MGI:102780

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Gene Summary

Name:
sine oculis-related homeobox 1
Synonyms:
N/A

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Six1em1(IMPC)Mbp HET Late adult 1.14×10-07
decreased leukocyte cell number Six1em1(IMPC)Mbp HET Late adult 4.97×10-07
abnormal spleen morphology Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Six1em1(IMPC)Mbp HET Late adult 0.00
edema Six1em1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Six1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
small spleen Six1em1(IMPC)Mbp HET Early adult 0.00
decreased prepulse inhibition Six1em1(IMPC)Mbp HET Early adult 4.60×10-08
abnormal heart morphology Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal placenta morphology Six1em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Six1em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Six1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged heart Six1em1(IMPC)Mbp HET Late adult 0.00
decreased circulating calcium level Six1em1(IMPC)Mbp HET Early adult 2.37×10-05
enlarged kidney Six1em1(IMPC)Mbp HET Late adult 0.00
embryonic growth retardation Six1em1(IMPC)Mbp HOM E15.5 0.00
abnormal uterus morphology Six1em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Six1em1(IMPC)Mbp HET Late adult 0.00
small kidney Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Six1em1(IMPC)Mbp HET Late adult 0.00
edema Six1em1(IMPC)Mbp HOM E15.5 0.00
prolonged RR interval Six1em1(IMPC)Mbp HET Late adult 1.91×10-10

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

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26 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Six1 mutations

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

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

The table below shows human diseases associated to Six1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bor Syndrome
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia, Renal insuffic... ORPHA:107
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Branchiootic Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormality of the... ORPHA:52429
Branchiootic Syndrome 3
Sensorineural hearing impairment OMIM:608389

The table below shows human diseases predicted to be associated to Six1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... OMIM:128980
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... ORPHA:3232
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... OMIM:221300
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Unilateral... OMIM:173800
Sprengel Deformity
Torticollis, Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Cleft pa... ORPHA:3181
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the... OMIM:108760
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal deat... OMIM:253310
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepat... OMIM:617610
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Bor Syndrome
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia, Renal insuffic... ORPHA:107
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Branchiootorenal Syndrome 1
Conductive hearing impairment, Hypoplasia of the cochlea, Renal dysplasia, Microdontia, Bifid uvu... OMIM:113650
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Unilateral deafness OMIM:612097
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Congenital Patella Dislocation
Knee flexion contracture, Genu valgum, Patellar dislocation, Limited knee extension, Aplasia/Hypo... ORPHA:295036
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtr... OMIM:616549
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... OMIM:619902
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia, Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Branchiootic Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormality of the... ORPHA:52429
Pendred Syndrome
Respiratory insufficiency, Hypothyroidism, Sensorineural hearing impairment, Thyroid carcinoma, H... ORPHA:705
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Neuroendocrine neoplasm, Car... ORPHA:100084
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Microtia, Underdeveloped tragus, Mi... ORPHA:79113
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select... OMIM:305620
Monosomy 22
Wide nose, Hyperhidrosis, Retrognathia, Contractures of the large joints, High palate, Long philt... ORPHA:96123
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, ... ORPHA:3268
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Ring Chromosome 8 Syndrome
Round ear, Epicanthus, Short nose, Abnormality of the ureter, Abnormal palate morphology, Antever... ORPHA:1450
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger, ... OMIM:609813
Deafness, Unilateral
Unilateral deafness OMIM:125000
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy ORPHA:1513
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... OMIM:601382
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Convex nasal ridge, Hyperplasia of midface, Kyphosis, Micrognathia, Abnormality of... ORPHA:2522
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Abnormal bone ossification, Thin metatarsal cortices, Slender long bone, Small hypot... ORPHA:2463
Auriculocondylar Syndrome 2
Micrognathia, Cleft palate, Glossoptosis, Hearing impairment, Posteriorly rotated ears, Overfoldi... OMIM:614669
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Marinesco-Sjögren Syndrome
Metatarsus valgus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fing... ORPHA:559
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Becker Nevus Syndrome
Supernumerary ribs, Pectus excavatum, Abnormality of tibia morphology, Rib fusion, Shoulder girdl... ORPHA:64755
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Trisomy 18-Like Syndrome
Wide nasal bridge, Blepharophimosis, Micrognathia, Narrow palpebral fissure, Abnormal pinna morph... OMIM:601161
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal antihelix morphology, Underdeveloped nasal alae, Camptodactyly of finger, Macrotia, Long... ORPHA:1968
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a... ORPHA:2926
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hydrolethalus Syndrome 1
Micrognathia, Arrhinencephaly, Anencephaly, Bifid nose, Midline defect of the nose, Median cleft ... OMIM:236680
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Endosteal Hyperostosis, Worth Type
Abnormal cortical bone morphology, Craniofacial hyperostosis, Torus palatinus, Generalized osteos... ORPHA:2790
Meier-Gorlin Syndrome 8
Decreased body weight, Microtia, Nephroptosis, Low-set ears, Unilateral renal hypoplasia OMIM:617564
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand,... OMIM:181405
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Cervical Rib
Cervical ribs OMIM:117900
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Microtia With Meatal Atresia And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Anotia, Microtia OMIM:251800
Treacher-Collins Syndrome
Conductive hearing impairment, Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Midface... ORPHA:861
Nager Syndrome
Non-midline cleft lip, Wide mouth, Microtia, Abnormal nasal morphology, Micrognathia, Unilateral ... ORPHA:245
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, High palate, Generalized joint laxity, Limited elbow movement, Limitation of knee m... ORPHA:319171
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Genu valgum, Mandibular prognathia, Wide nasal bridge, Protruding ear, Cubitus valgus, Joint hype... ORPHA:1778
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Abnormality of the dentiti... OMIM:182290
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, Supernumerary tooth, ... ORPHA:3145
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Narrow palate, T lymphocytopenia, Epicanth... OMIM:618223
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Horizontal eyebrow, Short 5th finger, Micrognathia, Long eyelashes, Thin upper lip vermilion, Ant... OMIM:618608
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re... OMIM:602450
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Sensory axonal neuropathy,... OMIM:300614
Otofaciocervical Syndrome 1
Conductive hearing impairment, High palate, Hypoplasia of the cochlea, Narrow nose, Mixed hearing... OMIM:166780
17Q21.31 Microduplication Syndrome
High palate, Epicanthus, Micrognathia, Synophrys, Short philtrum, Short nose, Abnormality of the ... ORPHA:217340
Childhood-Onset Nemaline Myopathy
Poor fine motor coordination, Flexion contracture, Micrognathia, Facial diplegia, Nemaline bodies... ORPHA:171439
Dysostosis, Stanescu Type
Hyperlordosis, Convex nasal ridge, Kyphosis, Abnormal nasal morphology, Increased bone mineral de... ORPHA:1798
Nemaline Myopathy 2
Muscle fiber splitting, Flexion contracture, Nemaline bodies, Frequent falls, Dysphagia, Cleft pa... OMIM:256030
Branchiootic Syndrome 1
Retrognathia, Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of ... OMIM:602588
Toluene Embryopathy
Micrognathia, Short nose, Smooth philtrum, Cryptorchidism, Hypoplasia of the zygomatic bone, Thin... ORPHA:1920
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Wide nasal bridge, Synophrys, Lobar holoprosencephaly, Smooth philtrum, Cleft p... OMIM:614701
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Asymmetric Short Stature Syndrome
Convex nasal ridge, Lumbar scoliosis, Micrognathia, Fused cervical vertebrae, Dental crowding OMIM:108450
Pontocerebellar Hypoplasia, Type 16
Prominent nose, Limb hypertonia, Recurrent urinary tract infections, Optic atrophy, Spastic tetra... OMIM:619527
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Epicanthus, Blepharophimos... ORPHA:3236
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Cleidocranial Dysplasia
Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, Cleft palate, H... ORPHA:1452
Trimethylaminuria
Anemia, Trimethylaminuria, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Acrofacial Dysostosis, Catania Type
Preauricular pit, Microretrognathia, Short nose, Spina bifida occulta, Abnormal palate morphology... ORPHA:1786
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... OMIM:616201
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Poor fine motor coordina... ORPHA:171442
Autosomal Recessive Progressive External Ophthalmoplegia
Muscle fiber atrophy, Optic atrophy, Facial palsy, Parkinsonism with favorable response to dopami... ORPHA:254886
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hearing abnormality, Macrotia, Narrow palate, Aplasia/Hypoplasia of the earlobes, Hydrocephalus, ... ORPHA:1555
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long philtrum, Coxa vara, Hip dysplasia, Preaxial foot polydacty... ORPHA:1988
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Micrognathia, Choreoathetosis, Spastic paraplegia... OMIM:300055
Apert Syndrome
Respiratory insufficiency, Conductive hearing impairment, Convex nasal ridge, Optic atrophy, Dela... ORPHA:87
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Antley-Bixler Syndrome
Camptodactyly of finger, Delayed cranial suture closure, Long philtrum, Recurrent fractures, Elbo... ORPHA:83
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Kyphosis, Micrognathia, Short philtrum, Hip disloc... ORPHA:958
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Cleft upper lip, Flexion contracture, Vertebral fusion, Jo... OMIM:312150
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Elb... ORPHA:1826
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, High palate, Microtia, Asthma, Short lingual f... ORPHA:293939
Noonan Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Sensorineural hearing impairme... ORPHA:648
X-Linked Intellectual Disability, Seemanova Type
High palate, Skeletal muscle atrophy, Hypoplasia of the musculature ORPHA:85323
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Oral synechia, Clinodactyly of the 5th finger, Joint ... ORPHA:1388
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Long philtrum, Finger syndactyly, Rib segmentation abnorma... ORPHA:2311
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Macrotia, Convex nasal ridge, Mandibular prognathia, Downturned corners of mouth, Nar... ORPHA:1110
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1522
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Distal Monosomy 10Q
Poor fine motor coordination, Wide nasal bridge, Epicanthus, Micrognathia, Oculomotor apraxia, Mo... ORPHA:96148
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Cleft upper lip, Macrotia, Wide nasal bridge, Hypogonadism, Hypodontia, Abnormalit... ORPHA:3253
Branchiogenic-Deafness Syndrome
Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen... OMIM:609166
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Hepatic steatosi... OMIM:619048
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, High palate, Sensorineural hearing impairment, Branchial anomaly, ... ORPHA:1131
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... ORPHA:611
Distal Monosomy 1Q
Epicanthus, Micrognathia, Depressed nasal bridge, Thin vermilion border, Smooth philtrum, Low-set... ORPHA:36367
Oculoauriculovertebral Spectrum With Radial Defects
Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineu... ORPHA:2549
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A... OMIM:265000
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Snakebite Envenomation
Hypotension, Diarrhea, Respiratory paralysis, Pseudobulbar paralysis, Cardiogenic shock, Thromboc... ORPHA:449285
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Pontocerebellar Hypoplasia, Type 7
Thick upper lip vermilion, Wide nasal bridge, Epicanthus, Optic atrophy, Micrognathia, Synophrys,... OMIM:614969
Acrocraniofacial Dysostosis
Downslanted palpebral fissures, Conductive hearing impairment, Sensorineural hearing impairment, ... ORPHA:949
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism, Convex nasal ridge, High palate, Sensorineural hearing impairment, Prominent nose... OMIM:617796
Marshall Syndrome
Thick upper lip vermilion, Genu valgum, High palate, Long philtrum, Sensorineural hearing impairm... ORPHA:560
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Genu valgum, Hypoplasia of penis, Short nose, Thin upper lip vermili... ORPHA:1295
Ethanolaminosis
Cardiomegaly OMIM:227150
Aa Amyloidosis
Hypotension, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnorma... ORPHA:85445
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Abnormality of the kidney, Abnormal bleeding, Bruising suscepti... OMIM:155100
3Mc Syndrome 2
Partial abdominal muscle agenesis, Diastasis recti, Cleft upper lip, High palate, Limited elbow m... OMIM:265050
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly of the 5th finger, Congenital d... ORPHA:2141
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy OMIM:155900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, High palate, Short ribs, Elbo... ORPHA:1145
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Underdeveloped nasal alae, Downslanted palpebral fissures, Aplasia of the inner ear, Conical toot... ORPHA:90024
Warsaw Breakage Syndrome
High palate, Wide mouth, Epicanthus, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, ... OMIM:613398
Joubert Syndrome 21
Single naris, Sensorineural hearing impairment, Oculomotor apraxia, Ataxia, Apnea, Renal cyst, Pt... OMIM:615636
Cohen Syndrome
Micrognathia, Tooth agenesis, Gingival overgrowth, Genu valgum, Delayed puberty, Cryptorchidism, ... ORPHA:193
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... OMIM:311895
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... ORPHA:98807
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Wide nose, Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares ORPHA:3074
Wieacker-Wolff Syndrome
Micrognathia, Oculomotor apraxia, Camptodactyly, Smooth philtrum, Distal amyotrophy, Arthrogrypos... OMIM:314580
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Facioscapulohumeral Muscular Dystrophy 1
Calf muscle hypertrophy, Tongue atrophy, Scapulohumeral muscular dystrophy, Shoulder girdle muscl... OMIM:158900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber atrophy, Optic atrophy, Truncal ataxia, Babinski sign, Dysphagia, Bradykinesia, Faci... OMIM:258450
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Epicanthus, Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Low-set, poster... ORPHA:2015
Intellectual Developmental Disorder, Autosomal Dominant 56
Gastroesophageal reflux, Spasticity, Bradykinesia, Sensorineural hearing impairment, High palate,... OMIM:617854
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Carey-Fineman-Ziter Syndrome 1
Flexion contracture, Pierre-Robin sequence, High palate, Tapered finger, Pectoralis hypoplasia, H... OMIM:254940
Frontonasal Dysplasia 1
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Wide nasal... OMIM:136760
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Death in infancy, Postaxial foot polydactyly, Postaxial hand polydac... OMIM:617405
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... OMIM:601596
Shashi-Pena Syndrome
Retrognathia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Kyphosis, Accelerated skeletal ma... OMIM:617190
Congenital Myopathy 19
Respiratory insufficiency, Hydronephrosis, High palate, Depressed nasal ridge, Congenital contrac... OMIM:618578
Cerebrofaciothoracic Dysplasia
Bifid ribs, Cleft upper lip, Wide mouth, Narrow chest, Rib fusion, Sprengel anomaly, Cleft palate... ORPHA:1394
Holoprosencephaly
Abnormal antihelix morphology, Spinal dysraphism, Anterior hypopituitarism, Median cleft lip, Hol... ORPHA:2162
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Schinzel-Giedion Syndrome
Central hypothyroidism, Infantile sensorineural hearing impairment, Delayed eruption of teeth, Mi... ORPHA:798
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Retrognathia, Esophageal atresia, Preauricular pit, Fused cervical vertebrae, Submucou... OMIM:619227
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Hypothyroidism, Microdontia, Hydrocephalus, Hypoplasia of penis, Supernumerary nipp... ORPHA:1812
Lower Limb Malformation-Hypospadias Syndrome
Respiratory insufficiency, Macrotia, Hypospadias, Abnormality of the ureter, Low-set, posteriorly... ORPHA:2487
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Increased incisura length, Mixed hearing impairment, Stenosis of the external auditory ... OMIM:612290
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Obesity, Hearing impairment, Hydronephrosis OMIM:615996
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Ectopic anus, Spina bifida, Anal atresia, Abnormal sacrum morpho... ORPHA:2345
Chromosome 22Q11.2 Duplication Syndrome
Downslanted palpebral fissures, High palate, Depressed nasal ridge, Epicanthus, Micrognathia, Vel... OMIM:608363
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Carey-Fineman-Ziter Syndrome 2
Underdeveloped nasal alae, Abnormal nasal septum morphology, Abnormal skeletal muscle morphology,... OMIM:619941
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Gait ataxia, Sensorineural hearing impairment, Optic atrophy, Truncal ataxia, Wolff-Parkinson-Whi... OMIM:601338
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypospadias, Cryptorchidism, Bradycardia, Mi... OMIM:618815
Monosomy 13Q34
Downslanted palpebral fissures, Horizontal eyebrow, Prominent nose, Epicanthus, Micrognathia, Hem... ORPHA:96168
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Micrognathia, Hypoplasia of the zygomatic bone, Cleft pa... OMIM:248390
9Q33.3Q34.11 Microdeletion Syndrome
Abnormal shape of the palpebral fissure, Thin vermilion border, Dysphagia, Telecanthus, Asthma, S... ORPHA:495818
Craniofacial-Deafness-Hand Syndrome
Downslanted palpebral fissures, Sensorineural hearing impairment, Narrow naris, Short nose, Hypop... OMIM:122880
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Spasticity, Optic atrophy, Death in infancy, Micrognathia, Depressed nasal bridge, Narrow mouth, ... OMIM:618766
Acute Promyelocytic Leukemia
Productive cough, Oral cavity bleeding, Thrombocytopenia, Gingival overgrowth, Exertional dyspnea... ORPHA:520
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Spasticity, Wide nasal bridge, Rigidity, Ataxia, Apnea, Respiratory fa... OMIM:610127
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Lower limb muscle weakness, Calf muscle hypertrophy, Macroglossia, Limb-girdle muscular dystrophy... OMIM:616052
Joubert Syndrome 3
Neonatal breathing dysregulation, Wide nasal bridge, Episodic tachypnea, Stage 5 chronic kidney d... OMIM:608629
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... OMIM:130720
Maxillonasal Dysplasia
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... ORPHA:1248
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Res... ORPHA:1832
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hooded eyelid, Micrognathia, Synophrys, Short fourth metatarsal, Smooth philtrum, Uplifted earlob... OMIM:619841
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Cleft palate, Joint contracture, Hypoplasia of the musculature, Pterygium OMIM:225790
Ring Chromosome 7 Syndrome
Short 5th finger, Wide nasal bridge, Epicanthus, Bifid uvula, Holoprosencephaly, Cleft palate, Sh... ORPHA:1449
Atrial Septal Defect 6
Atrial septal defect, Bradycardia, Atrial fibrillation OMIM:613087
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... OMIM:615415
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment,... ORPHA:1529
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Posterior rib gap, Smooth philtrum, Cleft palate, Glossoptosis, Left ventricular h... OMIM:611209
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Nephronophthisis 2
Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hypertension, Chronic t... OMIM:602088
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Retrognathia, Prenatal death, High palate, Wide nasal bridge, Micrognathia, Cam... OMIM:618393
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Fused cervical ... OMIM:214300
Pfeiffer Syndrome
Hyperlordosis, Mandibular prognathia, High palate, Wide nasal bridge, Synostosis of carpal bones,... ORPHA:710
Holoprosencephaly 9
Prominent antihelix, Optic nerve hypoplasia, Holoprosencephaly, Cleft palate, Bilateral cleft lip... OMIM:610829
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Optic atrophy, Anterior hypopituitarism, Bilater... ORPHA:1435
Lamb-Shaffer Syndrome
Thoracic kyphosis, Micrognathia, Fused cervical vertebrae, Broad nasal tip, Scoliosis, Thick verm... ORPHA:530983
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Rib fusion, Death in infancy, Block vertebrae OMIM:277300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Downslanted palpebral fissures, Hypoventilation, Aspiration pneumonia, Sparse lateral eyebrow, Hi... ORPHA:314655
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Wide nasal bridge, Microtia, Blepharophimosis, Micrognathia... ORPHA:1703
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Missing ribs, Posterior rib fusion, Abnormal rib morphology, Cleft palate ORPHA:1797
Kniest Dysplasia
Keratan sulfate excretion in urine, Short neck, Enlarged joints, Delayed patellar ossification, C... ORPHA:485
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Severe Oculo-Renal-Cerebellar Syndrome
Macrotia, Mandibular prognathia, Wide mouth, Malar prominence, Large earlobe, Scoliosis, Proteinu... ORPHA:2715
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive ... OMIM:186500
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Recurrent otitis media, Thin upper lip vermilion, Broad nasal ti... ORPHA:370010
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Congenital Fiber-Type Disproportion Myopathy
Knee flexion contracture, Flexion contracture, Hip contracture, High palate, Elbow flexion contra... ORPHA:2020
Giant Cell Arteritis
Sudden cardiac death, Hyperhidrosis, Diabetes insipidus, Conductive hearing impairment, Cerebral ... ORPHA:397
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Abnormality of the cervical spine, Long philtrum, Wide ... ORPHA:915
Auriculocondylar Syndrome 1
Hypoplastic superior helix, Cleft at the superior portion of the pinna, Dental malocclusion, Mand... OMIM:602483
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Abnormality of the philtrum, Spasticity,... ORPHA:2863
Isotretinoin-Like Syndrome
Gastroesophageal reflux, Anotia, Microtia, Micrognathia, Hydrocephalus, Lymphopenia, Aplasia/Hypo... ORPHA:2306
Hajdu-Cheney Syndrome
Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Micrognathia, Osteolysis, ... ORPHA:955
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Atelosteogenesis, Type I
Neonatal death, Encephalocele, Vertebral hypoplasia, Multinucleated giant chondrocytes in epiphys... OMIM:108720
Hypophosphatasia, Childhood
Premature loss of primary teeth, Bowing of the legs, Rachitic rosary, Myopathy, Carious teeth, Cr... OMIM:241510
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Enlarged kidney, Pericardial effusion, ST segment depression, Cong... OMIM:261740
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... OMIM:611584
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... OMIM:617114
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial hyperostosis, Facial diplegia, Diaphyseal sclerosis, Craniofacial os... OMIM:122860
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Aplasia/Hypoplasia involving the nose, Narrow internal auditory canal, Mandibular a... ORPHA:990
Glutamine Deficiency, Congenital
Flexion contracture, Wide nasal bridge, Camptodactyly, Short nose, Apnea, Depressed nasal bridge,... OMIM:610015
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Myh9-Related Disease
Sensorineural hearing impairment, Renal insufficiency, Congenital thrombocytopenia, Spontaneous, ... ORPHA:182050
Prolidase Deficiency
Genu valgum, Splenomegaly, Depressed nasal ridge, Micrognathia, Abnormality of the middle ear, De... ORPHA:742
Treacher Collins Syndrome 2
Retrognathia, Fusion of middle ear ossicles, Choanal stenosis, Conductive hearing impairment, Ano... OMIM:613717
Cutis Laxa, Autosomal Recessive, Type Iid
Retrognathia, Downslanted palpebral fissures, Macrotia, Pneumothorax, Right bundle branch block, ... OMIM:617403
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal metaphysis morphology, Halber... ORPHA:2635
Non-Distal Trisomy 10Q
Abnormality of the urinary system, Downslanted palpebral fissures, Convex nasal ridge, High palat... ORPHA:1695
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Cerebral palsy, Intracranial hemorrhage, Hyp... ORPHA:369929
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Aplasia/Hypoplasia of... ORPHA:2990
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Upper limb amyotrophy, Tongue atrophy, Proximal muscle weakness in uppe... ORPHA:496689
Benign Paroxysmal Torticollis Of Infancy
Ataxia, Torticollis, Abnormal head movements, Vertigo ORPHA:71518
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus, Ataxia, Apnea, Ptosis, N... ORPHA:220497
Pierre Robin Syndrome
Cleft palate, Micrognathia, Pierre-Robin sequence, Glossoptosis OMIM:261800
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Enlarged joints, Narrow greater sciatic notc... OMIM:156530
14Q11.2 Microdeletion Syndrome
Sparse lateral eyebrow, High palate, Long philtrum, Epicanthus, Blepharophimosis, Micrognathia, D... ORPHA:261120
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, Sclerotic humera... OMIM:609052
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing... OMIM:610706
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge, Short nose ORPHA:2835
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Mandibular prognathia, Wide nasal bridge, Microtia, Aganglionic megacolon, Hydroce... OMIM:613603
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Delayed eruption of primary teeth, Low-set ears, Microtia, Wide na... OMIM:616367
Thymic Aplasia
Hypothyroidism, Diarrhea, T lymphocytopenia, Recurrent urinary tract infections, Malabsorption, C... ORPHA:83471
Charge Syndrome
Hypothyroidism, Gonadotropin deficiency, Micrognathia, Lop ear, Holoprosencephaly, Parathyroid hy... OMIM:214800
Lujan-Fryns Syndrome
Camptodactyly of finger, Macroorchidism, High palate, Micrognathia, Short philtrum, Hypoplasia of... ORPHA:776
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Conductive hearing impairment, High palate, Wide nasal bridge, Microti... OMIM:248910
Tetraamelia Syndrome 1
Urethral atresia, Single naris, Cleft upper lip, Asplenia, Adrenal gland agenesis, Micrognathia, ... OMIM:273395
Glycine Encephalopathy With Normal Serum Glycine
Retrognathia, Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, ... OMIM:617301
Whistling Face Syndrome, Recessive Form
Underdeveloped nasal alae, Knee flexion contracture, High palate, Long philtrum, Micrognathia, El... OMIM:277720
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Epicanthus, Micrognathia, Prominent nasal tip, Hypertonia, Thick eyebrow, Arth... OMIM:615834
Thakker-Donnai Syndrome
Macrotia, Communicating hydrocephalus, Anal atresia, Tracheoesophageal fistula, Congenital diaphr... ORPHA:1780
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormality of the elbow, Slender long bone, Abnormal cortical bone morpholo... ORPHA:1486
48,Xxyy Syndrome
Delayed eruption of teeth, Epicanthus, Taurodontia, Cleft palate, Abnormal dental enamel morpholo... ORPHA:10
Afibrinogenemia, Congenital
Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui... OMIM:202400
Semilobar Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Median cleft lip, Abnormal pattern of r... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Median cleft lip, Abnormal pattern of r... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Median cleft lip, Abnormal pattern of r... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Flexion contracture, Bifid uvula, Median cleft lip, Abnormal pattern of r... ORPHA:93924
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Basal Cell Nevus Syndrome 1
Bifid ribs, Hamartomatous stomach polyps, Abnormal sternum morphology, Cleft upper lip, Odontogen... OMIM:109400
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Aredyld Syndrome
Upslanted palpebral fissure, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Abnormal t... ORPHA:1133
Proboscis Lateralis
Abnormal paranasal sinus morphology, Abnormal nasolacrimal system morphology, Epicanthus, Abnorma... ORPHA:141099
Primary Familial Polycythemia
Exertional dyspnea, Abnormal bleeding, Polycythemia, Vertigo, Epistaxis, Dyspnea, Cough, Abnormal... ORPHA:90042
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, Hyperlordosis, High palate, Micrognathia, Short philtrum, Midface ... ORPHA:1387
Brooke-Spiegler Syndrome
Nodular changes affecting the eyelids, Abnormality of the sublingual glands, Abnormal bleeding, A... ORPHA:79493
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Long philtrum, Ulnar deviation of finger, Hypoplasia of the musculature,... ORPHA:1101
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Hydrocephalus, Short ... ORPHA:163961
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Burn-Mckeown Syndrome
Conductive hearing impairment, Bilateral choanal atresia/stenosis, Micrognathia, Bifid uvula, Cle... OMIM:608572
Epilepsy, Progressive Myoclonic, 9
Short thumb, Microglossia, Generalized amyotrophy OMIM:616540
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Gait ataxia, Macrotia, Sensorineural hearing impairment, Small for gestational age, Truncal ataxi... OMIM:616817
Beta-Mercaptolactate Cysteine Disulfiduria
Downslanted palpebral fissures, Convex nasal ridge, High palate, Micromelia, Abnormality of the u... ORPHA:1035
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Microdontia, Micrognathia, Bifid uvula, Camptodactyly, Midface retrusion, Hip ... OMIM:613458
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616276
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Macrotia, High palate, Generalized joint laxity, Micrognathia, Facet joint ... OMIM:618000
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Familial Hypofibrinogenemia
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage ORPHA:98881
Orofaciodigital Syndrome Type 1
Lip pit, Wide nasal bridge, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, H... ORPHA:2750
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormality of the philtrum, Aplasia/Hypoplasia of the earlobes, Epicant... ORPHA:3409
Fraser Syndrome 1
Conductive hearing impairment, Cryptophthalmos, Midline nasal groove, Wide nasal bridge, Abnormal... OMIM:219000
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Gastroesophageal reflux, Optic atrophy, Death in infancy, Micrognathia, ... ORPHA:1495
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Nephrotic syndrome, Congestiv... ORPHA:330001
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Grant Syndrome
Joint dislocation, Narrow chest, Abnormal cortical bone morphology, Abnormality of the glenoid fo... ORPHA:2097
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Distal lower limb amyotrophy, Spastic gait, Rigidity, Urinary urgency, Babinski sig... ORPHA:100984
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Respiratory failure, Wide nasal bridge, Central sleep apnea, Aplasia/Hypoplasia of th... ORPHA:168486
Cutis Laxa, Autosomal Recessive, Type Iic
Knee flexion contracture, Right bundle branch block, Pneumothorax, Entropion, Narrow naris, High ... OMIM:617402
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Craniofacial hyperostosis, Clinodactyly of the 5th finger, Limi... ORPHA:3068
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Apert Syndrome
Delayed cranial suture closure, Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis,... OMIM:101200
Catel-Manzke Syndrome
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Cleft palate, Glossoptosis, Short toe, Low... OMIM:616145
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Trisomy 8P
Conductive hearing impairment, Multiple joint contractures, Bifid uvula, Thin vermilion border, A... ORPHA:264450
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Wiskott-Aldrich Syndrome
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Chronic leukemia, Chronic diarrhe... ORPHA:906
20P12.3 Microdeletion Syndrome
Long philtrum, Wide nasal bridge, Microtia, Hypoplasia of the maxilla, Depressed nasal bridge, Na... ORPHA:261295
Mcdonough Syndrome
Underdeveloped nasal alae, Dental malocclusion, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2471
Spondylocostal Dysostosis 5
Vertebral fusion, Supernumerary ribs, Missing ribs, Posterior rib fusion, Pectus carinatum OMIM:122600
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Crouzon Syndrome
Conjunctivitis, Convex nasal ridge, Conductive hearing impairment, Narrow palate, Narrow internal... ORPHA:207
Split-Hand/Foot Malformation 3
Renal hypoplasia, Abnormal pinna morphology OMIM:246560
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Hypertension... ORPHA:251274
Bernard-Soulier Syndrome
Giant platelets, Abnormal bleeding, Purpura, Epistaxis, Thrombocytopenia, Gingival bleeding, Gast... OMIM:231200
Waldenström Macroglobulinemia
Respiratory insufficiency, Retinal hemorrhage, Splenomegaly, Diarrhea, Leukemia, Malabsorption, N... ORPHA:33226
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Microtia, Prominent nose, Mic... OMIM:301022
Hadziselimovic Syndrome
Renal hypoplasia, Low-set ears, Failure to thrive, Posteriorly rotated ears OMIM:612946
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Downslanted palpebral fissures, High palate, Long philtrum, Spastic diplegia, Epicanthus, Microgn... ORPHA:480907
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Keppen-Lubinsky Syndrome
Underdeveloped nasal alae, Respiratory insufficiency, Flexion contracture, High palate, Opisthoto... ORPHA:435628
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Wide nasal bridge, Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Pro... OMIM:309620
Elsahy-Waters Syndrome
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Midface retru... OMIM:211380
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Granulomatosis With Polyangiitis
Respiratory insufficiency, Glomerulopathy, Prostatitis, Angina pectoris, Pericarditis, Intestinal... ORPHA:900
Nemaline Myopathy 5
Z-band streaming, Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Type 1 ... OMIM:605355
Perlman Syndrome
Nephroblastoma, Retrognathia, Hyperinsulinemia, Wide nasal bridge, Epicanthus, Micrognathia, Broa... ORPHA:2849
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Hand polydactyly, Congenital diaphragmatic hernia, Rib fusion, Cleft palate, Cr... ORPHA:261197
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Congenital Factor Ii Deficiency
Anemia, Post-partum hemorrhage, Microscopic hematuria, Abnormal umbilical stump bleeding, Abnorma... ORPHA:325
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine, Renal neoplasm, Oral ulcer ORPHA:46488
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Skeletal muscle atrophy... ORPHA:352479
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Prematu... OMIM:156510
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Cardiac arrest, Dicarboxylic aciduria, Hepatic steatosis, P... OMIM:212138
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Midface retrusion, Hypoplasia of the maxilla, Thin upper lip vermilion, S... OMIM:618737
Isolated Pierre Robin Syndrome
Cleft palate, Micrognathia, Glossoptosis ORPHA:718
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, Abnormal autonomic nervous system physiology, Hepatosplenomegaly, Distal amyotro... OMIM:609136
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Macrotia, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Long palpebr... OMIM:619797
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigidity, Limb apraxia, Apraxia, ... ORPHA:240103
Holoprosencephaly 3
Hydronephrosis, Single naris, Proboscis, Bifid uvula, Solitary median maxillary central incisor, ... OMIM:142945
Fetal Akinesia Deformation Sequence 2
Respiratory insufficiency, Downslanted palpebral fissures, Flexion contracture, High palate, Wide... OMIM:618388
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... OMIM:273050
Typhoid
Diarrhea, Cardiac arrest, Ataxia, Epistaxis, Tremor, Cough, Constipation, Gastrointestinal hemorr... ORPHA:99745
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Congenital diaphragmatic hernia, Anteriorly placed anus, P... ORPHA:1488
Kbg Syndrome
Underdeveloped nasal alae, Bilateral conductive hearing impairment, Macrotia, Vertebral fusion, L... ORPHA:2332
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Ambiguous... OMIM:194080
Meckel Syndrome, Type 8
Ambiguous genitalia, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperech... OMIM:613885
Wyburn-Mason Syndrome
Cerebral hemorrhage, Cerebral palsy, Hemiparesis, Epistaxis, Gingival bleeding, Tinnitus, Subarac... ORPHA:53719
Lowry-Maclean Syndrome
Convex nasal ridge, Micrognathia, Cleft palate, Widely patent coronal suture, Choanal atresia, Ta... ORPHA:2409
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux, Spasticity, Macrotia, Contractures of the large joints, Optic atrophy, Mic... ORPHA:3078
Autosomal Dominant Progressive External Ophthalmoplegia
Respiratory insufficiency, Hypothyroidism, Ventricular arrhythmia, Facial diplegia, Palpitations,... ORPHA:254892
Cardiofaciocutaneous Syndrome
Genu valgum, Macrotia, High palate, Long philtrum, Hydrocephalus, Submucous cleft hard palate, Sh... ORPHA:1340
Paragangliomas 1
Pulsatile tinnitus, Glomus jugular tumor, Conductive hearing impairment, Glomus tympanicum paraga... OMIM:168000
Orofaciodigital Syndrome Xvii
Decreased body weight, Hearing impairment, Renal hypoplasia, Low-set ears, Micropenis OMIM:617926
Glass Syndrome
Conical tooth, Micrognathia, Camptodactyly, Smooth philtrum, Cleft palate, Gingival overgrowth, P... OMIM:612313
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Hematuria, Intracranial hemorrhage, Bru... ORPHA:326
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Decreased testicular size, Hypoplasia of the maxilla, Crypt... ORPHA:85279
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Choanal stenosis, Narrow nasal ridge, Renal dysplasia, Narrow palpebral fissur... OMIM:236500
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:274600
Osteolysis Syndrome, Recessive
Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol... OMIM:259610
Intellectual Developmental Disorder, Autosomal Dominant 23
Downslanted palpebral fissures, Long philtrum, Wide nasal bridge, Micrognathia, Synophrys, Dental... OMIM:615761
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Micrognathia, Chronic constipation, Posteriorly rotated ears, Bilateral cleft lip... OMIM:618829
Congenital Factor Xiii Deficiency
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Intramuscular he... ORPHA:331
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermobi... OMIM:602196
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Adrenal hyperplasia, Epistaxis, Secretory adrenocortical a... ORPHA:403
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, High palate, Abnormal external ... ORPHA:556955
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hyperhidrosis, Limb hypertonia, Cerebral palsy, Rigidity, Hypomimic face, Ptosis, Tremor, Bradyki... ORPHA:70594
Keppen-Lubinsky Syndrome
Underdeveloped nasal alae, Respiratory insufficiency, Flexion contracture, High palate, Opisthoto... OMIM:614098
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Distal amyotrophy, Weakness of facial musculature, Tongue atrophy OMIM:254300
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Microtia, Blepharophimosis, Micrognathia, Renal agenesis, Hydrocephalus, Short nos... ORPHA:171839
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Spasticity, Apneic episodes in infancy, Broad nasal tip, Flexion contracture ORPHA:500545
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Low-set ears, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Urinary incontinence, Retrognathia, Bradykinesia, Progressive spastic pa... ORPHA:466722
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Abnormal nostril morphology, Long philtru... ORPHA:178303
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Upper limb amyotrophy, Distal lower limb amyotrophy, Intrinsic h... ORPHA:90103
Frontometaphyseal Dysplasia 2
Conductive hearing impairment, Wide nasal bridge, Bifid uvula, Camptodactyly, Elbow contracture, ... OMIM:617137
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Carpenter Syndrome 2
Wide nasal bridge, Epicanthus, Camptodactyly, Supernumerary nipple, Posteriorly rotated ears, Tri... OMIM:614976
Joubert Syndrome
Encephalocele, Episodic tachypnea, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus, Atax... ORPHA:475
Charge Syndrome
Delayed eruption of teeth, Anterior hypopituitarism, Abnormal soft palate morphology, Holoprosenc... ORPHA:138
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... ORPHA:169189
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Periphera... OMIM:617519
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiom... ORPHA:85447
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Limb myoclonus, Abnormal nerve conduction velocity, Postural tremor, Torticollis, Hy... OMIM:619862
Glanzmann Thrombasthenia
Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin... ORPHA:849
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Wide nasal bridge, Delayed skeletal maturation, Congenital sensori... OMIM:157800
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Dysphagia, Bradykinesia, Facial palsy, Gait ataxia, Increased variability in muscle fiber diamete... OMIM:157640
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Short philtrum, Abnormal oral frenulum m... ORPHA:1617
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... ORPHA:1801
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment,... OMIM:118100
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Abnormal metacarpal morphology, Pectus excavatum, Cleft palate, Pectus carinatum, ... ORPHA:166100
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Ataxia, Apnea, Ptosis, Nephropathy, Abnormal... ORPHA:2318
Renpenning Syndrome
Short philtrum, Anal atresia, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal thumb mo... ORPHA:3242
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Genu valgum, Firm muscles, Skeletal muscle hypertrophy, Irregular femoral epi... OMIM:255710
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Pectus excavatum, Elbow disl... ORPHA:1507
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, High palate, Sensorineural hearing impairment, Microdontia, Abnorm... ORPHA:1307
Aicardi Syndrome