Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small spleen Six1em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Six1em1(IMPC)Mbp HET Late adult 0.00
edema Six1em1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Six1em1(IMPC)Mbp HET Late adult 0.00
decreased prepulse inhibition Six1em1(IMPC)Mbp HET Early adult 7.54×10-08
abnormal blood vessel morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
small kidney Six1em1(IMPC)Mbp HET Late adult 0.00
decreased heart rate Six1em1(IMPC)Mbp HET Late adult 1.14×10-07
abnormal placenta morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
decreased leukocyte cell number Six1em1(IMPC)Mbp HET Late adult 4.97×10-07
enlarged kidney Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal uterus morphology Six1em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Six1em1(IMPC)Mbp HET Late adult 0.00
decreased circulating calcium level Six1em1(IMPC)Mbp HET Early adult 4.80×10-05
prolonged RR interval Six1em1(IMPC)Mbp HET Late adult 1.91×10-10
embryonic growth retardation Six1em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Six1em1(IMPC)Mbp HET E15.5 0.00
abnormal retina morphology Six1em1(IMPC)Mbp HET   Early adult 6.70×10-05
preweaning lethality, complete penetrance Six1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal spleen morphology Six1em1(IMPC)Mbp HET Late adult 0.00
edema 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 HET E15.5 0.00
abnormal heart morphology Six1em1(IMPC)Mbp HET Late adult 0.00

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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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Gross Morphology Embryo E14.5-E15.5

Images

26 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
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
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Hypoplasia of lat... OMIM:173800
Sprengel Deformity
Abnormal shoulder morphology, Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulde... ORPHA:3181
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex ... OMIM:253310
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki... OMIM:617610
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
7Q31 Microdeletion Syndrome
Long philtrum, Short palpebral fissure, Childhood onset sensorineural hearing impairment, Galacto... ORPHA:251061
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Bor Syndrome
Retrognathia, Abnormal lacrimal duct morphology, Renal hypoplasia/aplasia, Renal insufficiency, S... ORPHA:107
Branchiootorenal Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Microdontia, Intestinal mal... OMIM:113650
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Unilateral deafness OMIM:612097
Congenital Patella Dislocation
Genu valgum, Aplasia/Hypoplasia of the quadriceps, Limited knee extension, Knee flexion contractu... ORPHA:295036
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Low-set ears, Everted lower lip vermilion,... OMIM:616549
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory can... ORPHA:100084
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Sprengel Deformity
Neck muscle hypoplasia, Rib segmentation abnormalities, Shoulder muscle hypoplasia, Sprengel anomaly OMIM:184400
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Bifid uvula, Long ph... OMIM:301022
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormality of the philtrum,... ORPHA:3268
Monosomy 22
Thin vermilion border, Hypertonia, Retrognathia, Hypochromic microcytic anemia, Low-set, posterio... ORPHA:96123
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Short nose, Anteverted nares, Round ear, Abnormality of the ureter, H... ORPHA:1450
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Rib fusion, Contracture of the proximal interphalan... OMIM:609813
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Deafness, Unilateral
Unilateral deafness OMIM:125000
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Craniodiaphyseal Dysplasia
Optic atrophy, Stenosis of the external auditory canal, Conductive hearing impairment ORPHA:1513
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Low-set ears, Kyphosis, Abnormality of the ... ORPHA:2522
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Pendred Syndrome
Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot... ORPHA:705
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Thin metacarpal cortices, Slender long bone, Hypoplasia o... ORPHA:2463
Marinesco-Sjögren Syndrome
Muscular dystrophy, Abnormal metacarpal morphology, Pectus carinatum, Abnormal finger morphology,... ORPHA:559
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Limb hypertonia, Abnormality of extrapyramidal motor function, Recurrent urinary t... OMIM:619527
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Becker Nevus Syndrome
Abnormal tibia morphology, Pectus carinatum, Pectus excavatum, Shoulder girdle muscle atrophy, Su... ORPHA:64755
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Thyroid hypoplasia, Bifid uvula, Broad philtrum, Aplasia of t... OMIM:620186
Congenital Myopathy 22B, Severe Fetal
Dental crowding, Pectus excavatum, Thoracic hypoplasia, Triangular mouth, Short philtrum, Elbow f... OMIM:620369
Flat Face-Microstomia-Ear Anomaly Syndrome
Long nose, High, narrow palate, Low-set, posteriorly rotated ears, Abnormal tragus morphology, Ap... ORPHA:1968
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Hydrolethalus Syndrome 1
Stillbirth, Midline defect of the nose, Adrenal gland dysgenesis, Hypospadias, Anencephaly, Acces... OMIM:236680
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Hyperkinetic movements, Highly arched eyebrow, Absent internal auditory canal, Lon... OMIM:620469
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Meier-Gorlin Syndrome 8
Microtia, Low-set ears, Decreased body weight, Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Cervical Rib
Cervical ribs OMIM:117900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Gne Myopathy
Hip flexor weakness, Limited wrist extension, Muscle fiber inclusion bodies, Lower limb amyotroph... ORPHA:602
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Cranial nerve paralysis ORPHA:85179
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypop... ORPHA:2972
Treacher-Collins Syndrome
Midface retrusion, Retrognathia, Hypoplasia of penis, Microtia, Glossoptosis, Thyroid hypoplasia,... ORPHA:861
Nager Syndrome
Abnormal palate morphology, Low-set, posteriorly rotated ears, Unilateral renal agenesis, Non-mid... ORPHA:245
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Pontocerebellar Hypoplasia, Type 7
Oculomotor apraxia, Tongue fasciculations, Spastic paraplegia, Ataxia, Opisthotonus, Myoclonus, O... OMIM:614969
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Auriculocondylar Syndrome 4
Glossoptosis, Question mark ear, Narrow mouth, Hearing impairment, Micrognathia, Apnea, Cleft palate OMIM:620457
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Limited elbow movement, Limitation of knee mobility, Increased overbite, High palat... ORPHA:319171
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Oral ulcer, Chronic diarrhea, B lymphocytopenia, Lymphopenia, Eosinophilia... OMIM:602450
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Genu valgum, Cubitus valgus, Mandibular prognathia, Low-set ears, Smooth philtrum, Umbilical hern... ORPHA:1778
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Delayed puberty, Supernumerary tooth, Abnormal antihelix morphology, Limitation of joint mobility... ORPHA:3145
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Tooth malposition, Anteverted nares, Low-set ears, Long eyelashes, Hearing impairment, Horizontal... OMIM:618608
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res... OMIM:618223
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the de... ORPHA:217340
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Sensory axonal neuropathy, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abno... OMIM:300614
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Dysphagia, Long philtrum, Muscle fiber splitting, Calf muscle pse... OMIM:256030
Wieacker-Wolff Syndrome
Retrognathia, Oculomotor apraxia, Apraxia, Congenital foot contractures, Broad alveolar ridges, A... OMIM:314580
Dysostosis, Stanescu Type
Midface retrusion, Abnormal palate morphology, Narrow nasal bridge, Increased bone mineral densit... ORPHA:1798
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Toluene Embryopathy
Short nose, Thin vermilion border, Low-set ears, Micrognathia, Hydronephrosis, Smooth philtrum, P... ORPHA:1920
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Otofaciocervical Syndrome 1
Mixed hearing impairment, Hypoplasia of the cochlea, High palate, Scapular winging, Conductive he... OMIM:166780
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly ORPHA:100025
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Bilateral ptosis, Highly arched eyebrow, Intestinal malrotation, Enamel agenesis, Long philtrum, ... OMIM:614701
Branchiootic Syndrome 1
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,... OMIM:602588
Cleidocranial Dysplasia
Chronic otitis media, Midface retrusion, Glossoptosis, Decreased skull ossification, Sinusitis, A... ORPHA:1452
Trimethylaminuria
Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ears, Micro... OMIM:610706
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Midface retrusion, Hearing abnormality, Preauricular skin furrow, Aplasia/Hypoplas... ORPHA:1555
Acrofacial Dysostosis, Catania Type
Short nose, Abnormal palate morphology, Low-set, posteriorly rotated ears, Hypospadias, Spina bif... ORPHA:1786
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Abnormal middle ear morphology, Telecanthus, Abnormal antihelix morphology, Microtia,... ORPHA:79113
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Ragged-red muscle fibers, Parkinsonism with favorable response to do... ORPHA:254886
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Joubert Syndrome 3
Nephronophthisis, Oculomotor apraxia, Highly arched eyebrow, Anteverted nares, Low-set ears, Ptos... OMIM:608629
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Wrist flexion contracture, Spastic paraplegia, Ataxia, Babinski sign, Resting tremo... OMIM:300055
Femoral-Facial Syndrome
Abnormal fibula morphology, Orofacial cleft, Abnormal pelvic girdle bone morphology, Abnormal rib... ORPHA:1988
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Antley-Bixler Syndrome
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Delayed cranial suture closure, ... ORPHA:83
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, High palate, Skeletal muscle atrophy ORPHA:85323
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Short philtrum, Anteverted nares, Sensorineural hearing impairme... OMIM:617796
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Cleft upper lip, Cleft... OMIM:312150
Distal Deletion 10Q
Oculomotor apraxia, Facial diplegia, Cochlear malformation, Ataxia, Congenital sensorineural hear... ORPHA:96148
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... ORPHA:1826
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Butterfly vertebrae, Low-set, posteriorly rotat... ORPHA:958
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Finger syndactyly, Short thorax, Abnormal rib morphology, Campto... ORPHA:2311
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Pectus excavatum, Oral synechia, Radial deviation o... ORPHA:1388
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Megalopapilla, Single naris, Oculomotor apraxia, Encephal... OMIM:615636
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Midface retrusion, Hypodontia, Abnormal dental enamel morphology, Bilateral cleft palate, Hyperlo... ORPHA:3253
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Narrow mouth, Carious teeth, Macrotia, ... ORPHA:1110
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Short nose, Telecanthus, Respiratory distress, Anteverted nares, Low-set ears, H... ORPHA:314655
Distal Xq28 Microduplication Syndrome
Absent antihelix, Aplasia/Hypoplasia of the eyebrow, Thick lower lip vermilion, Dental crowding, ... ORPHA:293939
48,Xxyy Syndrome
Chronic otitis media, Hypoplasia of penis, Ataxia, Taurodontia, Broad jaw, Tremor, Carious teeth,... ORPHA:10
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Branchial anomaly, Sensorineural hearing impairment, High pala... ORPHA:1131
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Apert Syndrome
Sensorineural hearing impairment, Hypertension, Bifid uvula, Narrow palate, Optic atrophy, Ovaria... ORPHA:87
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Failure to thrive, Posteriorly rotated ears, ... OMIM:609425
Distal Deletion 1Q
Thin vermilion border, Low-set ears, Micrognathia, Epicanthus, Smooth philtrum, Depressed nasal b... ORPHA:36367
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Conductive hearing impairmen... ORPHA:1522
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Hypot... ORPHA:85445
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Umbilical hernia, Long philtru... OMIM:265000
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Childhood-Onset Nemaline Myopathy
Bradykinesia, Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, High palate, Neur... ORPHA:171439
Marshall Syndrome
Short nose, Thick lower lip vermilion, Genu valgum, Anteverted nares, Sensorineural hearing impai... ORPHA:560
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy... OMIM:619048
Glutamine Deficiency, Congenital
Thin vermilion border, Short nose, Bradycardia, Anteverted nares, Low-set ears, Camptodactyly, Mi... OMIM:610015
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hypoplasia, Underd... OMIM:610829
Ethanolaminosis
Cardiomegaly OMIM:227150
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Low-set ears, Rigidity, Apnea, Ataxia, Neonatal death, Wide nasal bridge OMIM:610127
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Genu valgum, Hypoplasia of penis, Anosmia, Joint stiffne... ORPHA:1295
Joubert Syndrome With Renal Defect
Orofacial cleft, Aganglionic megacolon, Low-set, posteriorly rotated ears, Oculomotor apraxia, En... ORPHA:220497
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotrophy, Knee flexi... ORPHA:496689
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Stenosis of the external auditory canal, Dental crowding, Mandib... OMIM:602483
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Facial palsy, Shoul... OMIM:158900
Cohen Syndrome
Delayed puberty, Sensorineural hearing impairment, Kyphosis, Tooth agenesis, Joint hypermobility,... ORPHA:193
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Long philtrum, Anteverted nares, Hypoplasia of the zygomatic bone, Wide nose ORPHA:3074
Shashi-Pena Syndrome
Retrognathia, Unilateral renal agenesis, Limb hypertonia, Cervical C2/C3 vertebral fusion, Scolio... OMIM:617190
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Tongue fascicul... ORPHA:1145
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Warsaw Breakage Syndrome
High palate, Hearing impairment, Wide mouth, Epicanthus, Optic disc coloboma, Cupped ear, Hypopla... OMIM:613398
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Widely spaced teeth, Conical tooth, Abnormal cranial nerve morphology, Senso... ORPHA:90024
Cerebrofaciothoracic Dysplasia
Narrow chest, Rib fusion, Cleft upper lip, Sprengel anomaly, Cleft palate, Wide mouth, Broad phil... ORPHA:1394
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cleft palate, Epic... ORPHA:2015
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Senso... OMIM:155100
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Short philtrum, Low-set ears, Narrow mouth, Camptodactyly, Downt... OMIM:617333
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Craniofacial-Deafness-Hand Syndrome
Short nose, Telecanthus, Sensorineural hearing impairment, Hypoplasia of the maxilla, Downslanted... OMIM:122880
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Cleft palate, Flexion ... OMIM:253290
Holoprosencephaly
Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Hypoplasia of penis, ... ORPHA:2162
Snakebite Envenomation
Cerebral ischemia, Epistaxis, Acute kidney injury, Abnormal bleeding, Hypopituitarism, Respirator... ORPHA:449285
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, High palate, Low-set ears, Depressed nasal ridge, Velopharyngeal insuf... OMIM:608363
Frontonasal Dysplasia 1
Short columella, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/aplasia, Bi... OMIM:136760
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Fused cervical vertebrae, Esophageal atresia, Wide nose, Unila... OMIM:619227
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue OMIM:155900
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Retrognathia, Hypertonia, Anteverted nares, Elbow flexion contracture, Low-set ear... OMIM:617301
3Mc Syndrome 2
Limited elbow movement, Caudal appendage, Torticollis, Hypoplasia of the musculature, Diastasis r... OMIM:265050
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Carey-Fineman-Ziter Syndrome 1
Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Tapered finger, Glossoptosis,... OMIM:254940
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Short nose, Hypoplasia of penis, Hydrocephalus, Abnormal dental enamel morphology, ... ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... OMIM:616052
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Long philtrum, Hypomimic face, Gastroesophageal reflux, Oromotor apraxia, Lower lim... OMIM:617854
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Schinzel-Giedion Syndrome
Retrognathia, Broad alveolar ridges, Shallow orbits, Wide mouth, Dysphagia, Short distal phalanx ... ORPHA:798
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Polyphagia, Renal hypoplasia, Uplifted earlobe, Obesity, Posteriorly rotated ears, ... OMIM:620439
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Congenital muscular tortico... ORPHA:2345
Ring Chromosome 7 Syndrome
Bilateral ptosis, Highly arched eyebrow, Small earlobe, Bifid uvula, Hypogonadism, Heart murmur, ... ORPHA:1449
Noonan Syndrome
Osteopenia, Midface retrusion, Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Low-s... ORPHA:648
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Mi... OMIM:618815
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Long palpebral fissure... OMIM:619797
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb muscle weakness, Lower limb amyotrophy, Amyotrophy of ankle musculature, Intrin... ORPHA:90103
Adult-Onset Nemaline Myopathy
Bradykinesia, Type 1 muscle fiber predominance, High palate, Upper limb muscle weakness, Neuromus... ORPHA:171442
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Midface retrusion, Patchy distortion of vertebrae, Mandi... ORPHA:1248
Glass Syndrome
Long nose, Dental crowding, Long philtrum, Narrow nose, Conical tooth, Anteverted nares, Oligodon... OMIM:612313
Carey-Fineman-Ziter Syndrome 2
Hypomimic face, Long philtrum, High, narrow palate, Increased overbite, Dental crowding, Abnormal... OMIM:619941
Treacher Collins Syndrome 3
Microtia, Conductive hearing impairment, Micrognathia, Cleft palate, Malar flattening, Hypoplasia... OMIM:248390
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Thin vermilion border, Death in childhood, Spasticity, Narrow mouth, Low-set ears,... OMIM:618766
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Retrognathia, Meckel diverticulum, Hydrocephalus, Low-set ears, Thick nasal alae, Mic... ORPHA:163961
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bilateral ptosis, Sensorineural hearing impairment, Cardiomyopathy, Gait ataxia, Rigidity, Dyspha... OMIM:258450
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Congenital Disorder Of Glycosylation, Type Iig
Short long bone, Glossoptosis, Broad femoral neck, Left ventricular hypertrophy, Long philtrum, C... OMIM:611209
Monosomy 13Q34
Prolonged prothrombin time, Abnormal earlobe morphology, Prominent nose, Pulmonic stenosis, Horiz... ORPHA:96168
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Joint contracture, Cleft palate, Pterygium OMIM:225790
Acute Promyelocytic Leukemia
Exertional dyspnea, Vertigo, Epistaxis, Leukopenia, Diffuse alveolar hemorrhage, Neutropenia, Abn... ORPHA:520
Kniest Dysplasia
Joint stiffness, Flexion contracture of finger, Delayed patellar ossification, Hearing impairment... ORPHA:485
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Recurrent otitis media, Cervical C2/C3 vertebral fusion, Moderate hearing impairment, Upper limb ... ORPHA:370010
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Short nose, Hypertonia, Abnormal pinna morphology, Vesicoureteral reflux, Myoclonu... ORPHA:3078
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action... ORPHA:98807
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Depressed n... ORPHA:1529
Xq21 Microdeletion Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, S... ORPHA:1435
Pontocerebellar Hypoplasia, Type 6
Narrow palate, Death in childhood, Gastroesophageal reflux, Lower limb spasticity, Appendicular s... OMIM:611523
Mosaic Trisomy 14
Hypospadias, Low-set, posteriorly rotated ears, Hypoplasia of penis, Blepharophimosis, Anteverted... ORPHA:1703
Pfeiffer Syndrome
Short philtrum, Mandibular prognathia, Hyperlordosis, High palate, Synostosis of carpal bones, Op... ORPHA:710
Fetal Akinesia Deformation Sequence 4
Retrognathia, 11 pairs of ribs, Low-set ears, High palate, Camptodactyly, Arthrogryposis multiple... OMIM:618393
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Broad nasal tip, Thick verm... ORPHA:530983
9Q33.3Q34.11 Microdeletion Syndrome
Highly arched eyebrow, Abnormal pinna morphology, Spastic tetraparesis, Epistaxis, Dysphagia, Tel... ORPHA:495818
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... OMIM:214300
Hajdu-Cheney Syndrome
Delayed puberty, Decreased skull ossification, Kyphosis, Intestinal malrotation, Biconcave verteb... ORPHA:955
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Gingival fibromatosis, Respiratory distress, Anteverted nares, Gingival... ORPHA:1832
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Missing ribs, Abnormal rib morphology, Cleft palate, Posterior rib fusion ORPHA:1797
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Nephronophthisis 2
Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis,... OMIM:602088
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Block vertebrae, Vertebral fusion, Rib fusion OMIM:277300
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Aarskog-Scott Syndrome
Orofacial cleft, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Genu recurvatum, A... ORPHA:915
Mucopolysaccharidosis Type 1
Chronic otitis media, Sensorineural hearing impairment, Everted lower lip vermilion, Microdontia,... ORPHA:579
Joubert Syndrome
Orofacial cleft, Aganglionic megacolon, Oculomotor apraxia, Encephalocele, Highly arched eyebrow,... ORPHA:475
Chilton-Okur-Chung Neurodevelopmental Syndrome
Bilateral ptosis, Highly arched eyebrow, Sensorineural hearing impairment, Septo-optic dysplasia,... OMIM:619841
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Gastroesophageal reflux, Hydrocephalus, Anteverted nares, Mi... ORPHA:2306
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Bradykinesia, Wolff-Parkinson-White syndrome, Sensorineural hearing impairment, In... OMIM:601338
Multiple Synostoses Syndrome 1
Short lower limbs, Short humerus, Hypoplastic spinal processes, Hypoplasia of the ulna, Short mid... OMIM:186500
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musculature, Type 1 ... ORPHA:2020
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Scoliosis, Macrotia, Wide mouth, Proteinuria, Large earlobe, Joint hypermo... ORPHA:2715
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele, Highly arched eyebrow, A... ORPHA:2318
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar rid... ORPHA:2863
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Cutis Laxa, Autosomal Recessive, Type Iic
Dental crowding, Nephrocalcinosis, Long philtrum, Entropion, Aortic regurgitation, Anteverted nar... OMIM:617402
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Dislocated radial head, Microtia, Delayed skeletal maturation, Patellar dislocation, Hip dislocat... OMIM:620663
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Atelosteogenesis, Type I
Midface retrusion, Short nose, Stillbirth, Thoracic platyspondyly, Fused cervical vertebrae, Ence... OMIM:108720
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... OMIM:617114
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Prolidase Deficiency
Reduced bone mineral density, Genu valgum, Abnormality of the middle ear, Depressed nasal ridge, ... ORPHA:742
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... OMIM:168000
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Hypophosphatasia, Childhood
Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis, Bowing of the ... OMIM:241510
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Pectus excavatum, Anosmia, ... OMIM:611584
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Spasticity, Hypertrophic cardiomyopathy, Death in infancy, Hearing impairment, Apnea... OMIM:616277
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Retrognathia, Oculomotor apraxia, Low-set ears, Ptosis, Apnea, Ataxia, H... OMIM:617563
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Vertigo, Gait ataxia, Intention tremor... ORPHA:101110
Treacher Collins Syndrome 2
Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair... OMIM:613717
Genitopatellar Syndrome
Wide nose, Delayed eruption of teeth, Gastroesophageal reflux, Low-set ears, Prominent nose, Hear... ORPHA:85201
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short philtrum, Abnormal oral frenulum morphology, Camptodacty... ORPHA:1617
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Orofacial cleft, Multiple pterygia, Pterygium, Finger sy... ORPHA:2990
Non-Distal Duplication 10Q
Short nose, Low-set, posteriorly rotated ears, High palate, Everted lower lip vermilion, Downslan... ORPHA:1695
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Respiratory distress, Synot... ORPHA:990
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Aganglionic megacolon, Sacral dimple, Short philtrum, Hydrocephalus, Mandibular progn... OMIM:613603
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical sclerosis, Death in ad... OMIM:122860
14Q11.2 Microdeletion Syndrome
Short nose, Low-set, posteriorly rotated ears, Highly arched eyebrow, Blepharophimosis, Exaggerat... ORPHA:261120
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rigidity, Dysphagia, Long philtrum, Optic atrophy, Babinski sign, Hypertonia, Exaggerated startle... OMIM:617527
Metatropic Dysplasia
Narrow greater sciatic notch, Short ribs, Long coccyx, Cupped ribs, Flared iliac wing, Flat aceta... OMIM:156530
Congenital Myopathy 19
Facial hypotonia, High palate, Low-set ears, Depressed nasal ridge, Congenital contracture, Heari... OMIM:618578
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Midface retrusion, Trismus, Shoulder flexion contracture, Elbow flexion contractu... OMIM:277720
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Stenosis of the external auditory canal, Microtia, Dental crowding, Low-set ears, Gl... OMIM:616367
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Retrognathia, Entropion, Blepharophimosis, Right bundle branch block, L... OMIM:617403
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, Gene... OMIM:620285
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge ORPHA:2835
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Proboscis Lateralis
Optic nerve hypoplasia, Abnormal eyebrow morphology, Ureteral agenesis, Long philtrum, Duplicatio... ORPHA:141099
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Single naris, Hydrocephalus, Low-set ears, Choanal atresia, Anal... OMIM:273395
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Semilobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea... ORPHA:220386
Alobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea... ORPHA:93926
Lobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea... ORPHA:93924
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Sensorineural hearing impairme... ORPHA:182050
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pyloric stenosis, Hand polydactyly, Cleft palate, Rib fusion, Cr... ORPHA:261197
Congenital Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the external ear, Spasticity, Low-set ears, Apnea, Wide nasal bridge ORPHA:168486
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Giant Cell Arteritis
Optic atrophy, Hematuria, Recurrent pharyngitis, Mediastinal lymphadenopathy, Diabetes insipidus,... ORPHA:397
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Odontogenic keratocysts of ... OMIM:109400
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Chronic otitis media, Protruding ear, Oral-pharyngeal dysphagia, Anteverted nares, Tremor, Low-se... ORPHA:480907
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Scoliosis, Low-set ears, Abnormality of the dentition, High pala... ORPHA:776
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Joint contracture of the 5th finger, Microtia, High palate, Cutaneous mastocytosis, Short foot, C... OMIM:248910
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Cerebral palsy, Wide mouth, Hypertonia, Short philtrum, Anteverted nares, ... OMIM:615834
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Abnormal circulating renin, Nephrolithiasis, Pulmonary arterial hypertension, Cereb... ORPHA:369929
Holoprosencephaly 3
Abnormality of the nose, Central diabetes insipidus, Solitary median maxillary central incisor, P... OMIM:142945
Brooke-Spiegler Syndrome
Nodular changes affecting the eyelids, Abnormal bleeding, Abnormal auditory canal morphology, Fac... ORPHA:79493
Tenorio Syndrome
Recurrent aphthous stomatitis, Wide nose, Telecanthus, Gastroesophageal reflux, Anteverted nares,... OMIM:616260
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Lymphadenopathy, Diarrhea, Thyroiditis, Recurrent urinary tract infections,... ORPHA:83471
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Charge Syndrome
Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, T... OMIM:214800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Chronic diarrhea, Sinusitis, Epistaxis,... ORPHA:906
Cataract-Intellectual Disability-Hypogonadism Syndrome
Midface retrusion, Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Abnormal... ORPHA:1387
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Anteverte... ORPHA:1780
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Microtia, Everted lower lip vermilion, Opisthotonus, D... OMIM:608013
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Abnormal nerve cond... OMIM:182290
Joubert Syndrome With Hepatic Defect
Orofacial cleft, Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, High... ORPHA:1454
Orofaciodigital Syndrome Type 1
Chronic otitis media, Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulu... ORPHA:2750
Aredyld Syndrome
Advanced eruption of teeth, Abnormal tragus morphology, Low-set, posteriorly rotated ears, Cranio... ORPHA:1133
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the musculature, Pectus excavatum, Camptodactyly of finger, Lo... ORPHA:1101
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Catel-Manzke Syndrome
Low insertion of columella, Glossoptosis, Short metacarpal, Bifid uvula, Short humerus, Narrow na... OMIM:616145
Epilepsy, Progressive Myoclonic, 9
Generalized amyotrophy, Short thumb, Microglossia OMIM:616540
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Low-set, posteriorly rotated ears, Abnormality of the ureter, Macrotia, Abnormality ... ORPHA:2487
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Babinski sign, Bradykinesia, Distal lower limb muscle weakness, Lower limb spastici... ORPHA:100984
Burn-Mckeown Syndrome
Bifid uvula, Short philtrum, Choanal atresia, Hearing impairment, Cleft palate, Protruding ear, H... OMIM:608572
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Renal insufficiency, Hy... ORPHA:330001
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Apert Syndrome
Chronic otitis media, Limited elbow movement, Midface retrusion, Bifid uvula, Craniosynostosis, N... OMIM:101200
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sensorineural hearing impairment, Truncal ataxia, Gait ataxia, Hearing impairment, Macrotia, Rena... OMIM:616817
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Palpebral edema, Death in childhood, Polycystic kidney dysplasia, Abnormal... OMIM:214110
Verheij Syndrome
Retrognathia, Short nose, Anteverted nares, Scoliosis, Hemivertebrae, Branchial cyst, Renal cyst,... OMIM:615583
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Death in childhood, Gingival bleeding, Death... OMIM:202400
Chromosome 16P13.3 Duplication Syndrome
Midface retrusion, Tracheobronchomalacia, Microtia, Microdontia, Bifid uvula, Wide mouth, Long ph... OMIM:613458
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Grant Syndrome
Abnormal palate morphology, Abnormal cortical bone morphology, Joint dislocation, Narrow chest, J... ORPHA:2097
Joubert Syndrome With Ocular Defect
Orofacial cleft, Aganglionic megacolon, Low-set, posteriorly rotated ears, Oculomotor apraxia, En... ORPHA:220493
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Aplasia/Hypoplasia of the earlobes, Abnormality ... ORPHA:3409
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Anteverted nares, High palate, Abnormality of the ureter, Micr... ORPHA:1035
Bardet-Biedl Syndrome 19
Hearing impairment, Renal hypoplasia, Obesity, Hydronephrosis, Renal insufficiency OMIM:615996
Elsahy-Waters Syndrome
Midface retrusion, Cervical C2/C3 vertebral fusion, Bifid nasal tip, Bifid uvula, Broad philtrum,... OMIM:211380
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Gorlin Syndrome
Orofacial cleft, Odontogenic keratocysts of the jaw, Abnormal rib morphology, Rib fusion, Arachno... ORPHA:377
Crouzon Syndrome
Narrow palate, Midface retrusion, Hydrocephalus, Choanal atresia, Multiple suture craniosynostosi... ORPHA:207
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Thoracic hemivertebra... OMIM:309620
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascites, Portal hypertension... OMIM:232500
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Spondylocostal Dysostosis 5
Pectus carinatum, Missing ribs, Supernumerary ribs, Posterior rib fusion, Vertebral fusion OMIM:122600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof... ORPHA:3068
Orofaciodigital Syndrome Type 6
Renal hypoplasia/aplasia, Highly arched eyebrow, Abnormal oral frenulum morphology, Ataxia, Tongu... ORPHA:2754
20P12.3 Microdeletion Syndrome
Microtia, Narrow mouth, Full cheeks, Hypoplasia of the maxilla, Malar flattening, Long philtrum, ... ORPHA:261295
Tarp Syndrome
Small earlobe, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Alveolar ridge overgro... ORPHA:2886
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Sensorineural hearing impairment, Anosmia, Abnormal autonomi... OMIM:609136
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Death in infancy, Narrow palate, Polycystic kidney dysplas... OMIM:608836
Primary Familial Polycythemia
Abnormal bleeding, Exertional dyspnea, Vertigo, Dyspnea, Polycythemia, Epistaxis, Abnormal hemogl... ORPHA:90042
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Midface retrusion, Hypoplasia of the maxilla, Widely-spaced incisors, Smooth philtrum, Protruding... OMIM:618737
Mcdonough Syndrome
Abnormal palate morphology, Short palpebral fissure, Low-set, posteriorly rotated ears, Short phi... ORPHA:2471
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Premature loss of teeth, Multiple small vertebral fracture... OMIM:156510
Split-Hand/Foot Malformation 3
Renal hypoplasia, Abnormal pinna morphology OMIM:246560
Perlman Syndrome
Short nose, High, narrow palate, Hyperinsulinemia, Retrognathia, Abnormal pancreas morphology, Hy... ORPHA:2849
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy... OMIM:618280
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Hadziselimovic Syndrome
Low-set ears, Failure to thrive, Posteriorly rotated ears, Renal hypoplasia OMIM:612946
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Promi... ORPHA:85279
Kbg Syndrome
Anteverted nares, Oligodontia, Bilateral conductive hearing impairment, Scoliosis, Thoracic kypho... ORPHA:2332
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor... ORPHA:1488
Carpenter Syndrome 2
Retrognathia, Highly arched eyebrow, Sensorineural hearing impairment, Upslanted palpebral fissur... OMIM:614976
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Orofaciodigital Syndrome Xvii
Decreased body weight, Low-set ears, Hearing impairment, Renal hypoplasia, Micropenis OMIM:617926
Myasthenic Syndrome, Congenital, 10
Distal amyotrophy, Proximal amyotrophy, Tongue atrophy, Weakness of facial musculature OMIM:254300
Facial Paresis, Hereditary Congenital, 3
Short nose, Short philtrum, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Hig... OMIM:614744
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Spasticity, Apneic episodes in infancy, Broad nasal tip, Flexion contracture ORPHA:500545
Lateral Meningocele Syndrome
Dental crowding, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbilical hernia, Join... OMIM:130720
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Hypomimic face, Scissor gait, Lower limb spasticity, Abnormality of ... OMIM:260300
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, Short nasal bridge, Craniosynostosis, Delayed erup... ORPHA:2409
Cardiofaciocutaneous Syndrome
Short nose, Genu valgum, Cubitus valgus, Low-set, posteriorly rotated ears, Hydrocephalus, Anteve... ORPHA:1340
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Hypertension, Focal segmental glo... OMIM:194080
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, High palate, Death in infancy, Increased var... OMIM:618414
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Giant platelets, Gingival bleeding, Meno... OMIM:231200
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ea... ORPHA:178303
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig... OMIM:613885
Frontometaphyseal Dysplasia 2
Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol... OMIM:617137
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypercalciuria, Hypertension, Abnormal circulating renin, Glucocortocoid-i... ORPHA:251274
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Respiratory distress, Progressive extrapyramidal muscular ri... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Dental crowding, Anteverted nares, Low-set ears, Upslanted palpebral fissure, Synoph... OMIM:615761
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysm... OMIM:618718
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment OMIM:133705
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle ... OMIM:271150
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Abnormality of the nose, Bradykinesia, Hypomimic face, Limb hypertonia, Tremor, Cerebral palsy, P... ORPHA:70594
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Abnormal palate morphology, Short nose, Hypertonia, Gastroesophageal reflux, Narro... ORPHA:1495
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Abnormal pinna morphology... ORPHA:556955
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pierre-Robin ... OMIM:602196
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Lower cranial nerve dysfunction, Abnormal cranial nerve phys... ORPHA:90117
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate... OMIM:615524
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Atrioventricular block, Neph... ORPHA:85447
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Short nose, Low-set, posteriorly rotated ears, Limb hypertonia, Abnormality of ext... ORPHA:521426