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
decreased leukocyte cell number Six1em1(IMPC)Mbp HET Late adult 4.97×10-07
abnormal skin morphology Six1em1(IMPC)Mbp HET Late adult 0.00
decreased prepulse inhibition Six1em1(IMPC)Mbp HET Early adult 4.82×10-08
decreased heart rate Six1em1(IMPC)Mbp HET Late adult 1.16×10-07
abnormal placenta morphology Six1em1(IMPC)Mbp HET E15.5 0.00
enlarged spleen Six1em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Six1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal blood vessel morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Six1em1(IMPC)Mbp HET Late adult 0.00
edema Six1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Six1em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Six1em1(IMPC)Mbp HET E15.5 0.00
edema Six1em1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Six1em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal craniofacial morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Six1em1(IMPC)Mbp HOM E15.5 0.00
prolonged RR interval Six1em1(IMPC)Mbp HET Late adult 1.28×10-10
decreased circulating calcium level Six1em1(IMPC)Mbp HET Early adult 2.37×10-05
abnormal uterus morphology Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal placenta vasculature Six1em1(IMPC)Mbp HET E15.5 0.00
small kidney Six1em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Six1em1(IMPC)Mbp HET Late adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 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
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal 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
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Uni... OMIM:173800
Sprengel Deformity
Torticollis, Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypopl... ORPHA:3181
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Abnormal thorax morphology, Arthrogryposis multipl... OMIM:253310
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Bor Syndrome
Abnormality of the middle ear ossicles, Abnormal lacrimal duct morphology, Renal hypoplasia/aplas... ORPHA:107
Branchiootorenal Syndrome 1
High palate, Cleft palate, Microdontia, Renal steatosis, Euthyroid goiter, Microtia, Unilateral r... OMIM:113650
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Unilateral deafness OMIM:612097
Congenital Patella Dislocation
Genu valgum, Knee flexion contracture, Limited knee extension, Patellar dislocation, Aplasia/Hypo... ORPHA:295036
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Bulbous nose, High palate, Flexion contracture,... OMIM:616549
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Sprengel Deformity
Sprengel anomaly, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Rib segmentation abnormalities OMIM:184400
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Carcinoid tumor, Abnormality of the auditory canal, Neuroendocr... ORPHA:100084
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Thyroid carcinoma, Goiter, Respiratory insufficiency, N... ORPHA:705
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... ORPHA:79113
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... ORPHA:52429
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Monosomy 22
High palate, Hypertonia, Aplasia of the thymus, Thin vermilion border, Micropenis, Hepatosplenome... ORPHA:96123
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Pectus carinatum, Radioulnar synost... ORPHA:3268
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Round ear, Epicanthus, Anteverted nares, Short nose, Hydronephrosis, A... ORPHA:1450
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Slender finger, Supernumerary vertebral ossification centers, Contracture of the prox... OMIM:609813
Deafness, Unilateral
Unilateral deafness OMIM:125000
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment OMIM:184460
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy ORPHA:1513
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Narrow mouth, Hypoplasia of the musculature, Pectus excavatum, Joint hypermobility, ... ORPHA:2463
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Marinesco-Sjögren Syndrome
Abnormality of finger, Coxa valga, Muscular dystrophy, Hip dysplasia, Avascular necrosis of the c... ORPHA:559
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Abnormality of tibia morphology, Shoulder girdle muscle atrophy, Pe... ORPHA:64755
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Trisomy 18-Like Syndrome
Abnormal pinna morphology, Micrognathia, Telecanthus, Narrow palpebral fissure, Low-set ears, Ble... OMIM:601161
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal antihelix morphology, Underdeveloped nasal alae, Narrow mouth, High, narrow palate, Mala... ORPHA:1968
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperplasia of midface, Kyphosis, Convex nasal ridge, Abnormal reticulocyte morphology, Micrognat... ORPHA:2522
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Smith-Magenis Syndrome
Motor stereotypy, Abnormality of the thyroid gland, Velopharyngeal insufficiency, Constipation, M... OMIM:182290
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:2926
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal rib morphology, Genera... ORPHA:2790
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Cleft palate, Micrognathia, Hypospadias, Accessory spleen, Anencephaly... OMIM:236680
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Narro... OMIM:614669
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Small hand, Progressi... OMIM:181405
Cervical Rib
Cervical ribs OMIM:117900
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
Lipedema
Edema OMIM:614103
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Low-set, po... ORPHA:2972
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Nager Syndrome
Joint stiffness, Wide mouth, Cleft palate, Microtia, Unilateral renal agenesis, Micrognathia, Abn... ORPHA:245
Distal 17P13.1 Microdeletion Syndrome
High palate, Protruding ear, Generalized joint laxity, Retrognathia, Limited elbow movement, Limi... ORPHA:319171
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia OMIM:251800
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Protruding ear, Cryptorchidism, Hypoplasia of the zygomatic bone, Genu valgum, Cubitus valgus, Sm... ORPHA:1778
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
17Q21.31 Microduplication Syndrome
High palate, Thick eyebrow, Malar flattening, Abnormality of the dentition, Short philtrum, Micro... ORPHA:217340
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Nephrogenic diabetes insipidus, Sup... ORPHA:3145
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Low-set ears, Thick eyebrow, Tooth malposition, Upslanted palpebral fissure, Micrognathia, Short ... OMIM:618608
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear OMIM:615706
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Otitis media, Splenomegaly, Recurrent upper respiratory tract... OMIM:602450
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Otofaciocervical Syndrome 1
High palate, Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Narrow nose, Sc... OMIM:166780
Nemaline Myopathy 2
High palate, Apnea, Cleft palate, Weakness of facial musculature, Increased variability in muscle... OMIM:256030
Dysostosis, Stanescu Type
Abnormal palate morphology, Kyphosis, Tooth agenesis, Convex nasal ridge, Increased bone mineral ... ORPHA:1798
Meier-Gorlin Syndrome 8
Decreased body weight, Low-set ears, Renal hypoplasia, Microtia OMIM:617564
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Apnea, Ataxia, Babinski sign, Tremor, Resting tremor, Flexion contracture, Micrognat... OMIM:300055
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Short nose, Enamel agenesis, Lobar holoprosencephaly, Thick eyebrow, Long philtrum,... OMIM:614701
Toluene Embryopathy
Protruding ear, Cryptorchidism, Thin vermilion border, Micrognathia, Hypoplasia of the zygomatic ... ORPHA:1920
Childhood-Onset Nemaline Myopathy
High palate, Facial diplegia, Reduced vital capacity, Increased variability in muscle fiber diame... ORPHA:171439
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Trimethylaminuria, Hypertension, Anemia OMIM:602079
Cleidocranial Dysplasia
Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Delayed eruption of teeth, Ca... ORPHA:1452
Distal Xq28 Microduplication Syndrome
High palate, Asthma, Stereotypical body rocking, Microtia, Upper eyelid edema, Broad nasal tip, R... ORPHA:293939
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Narrow nasal bridge, Atresia of the external auditory canal, Epica... ORPHA:3236
Pontocerebellar Hypoplasia, Type 16
Apnea, Limb hypertonia, Recurrent urinary tract infections, Optic atrophy, Prominent nose, Spasti... OMIM:619527
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Microretrognathia, Abnormality of the dentition, Hypospadias, Preauricular pit, L... ORPHA:1786
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow mouth, Tooth agenesis, Narrow palate, Hydrocephalus, Malar flattening, Craniosynostosis, C... ORPHA:1555
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Radial deviation of the 2nd fi... ORPHA:1388
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Microtia OMIM:248390
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Action tremor, Bradykine... ORPHA:254886
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Acro-Renal-Mandibular Syndrome
High palate, Kyphosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Aplasia/Hypoplasia o... ORPHA:958
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Antley-Bixler Syndrome
Joint stiffness, Recurrent fractures, Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostos... ORPHA:83
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture... OMIM:312150
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Preaxial foot polydactyly, Coxa vara, Aplasia/Hypoplasia of the tib... ORPHA:1988
Apert Syndrome
Hydrocephalus, Ovarian neoplasm, Cleft palate, Depressed nasal bridge, Micromelia, Delayed erupti... ORPHA:87
X-Linked Intellectual Disability, Seemanova Type
High palate, Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Noonan Syndrome
Sensorineural hearing impairment, High palate, Aplasia of the semicircular canal, Micrognathia, A... ORPHA:648
Asymmetric Short Stature Syndrome
Convex nasal ridge, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Dental crowding OMIM:108450
Frontometaphyseal Dysplasia
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Limitation of knee mobility, Pr... ORPHA:1826
Distal Monosomy 10Q
High palate, Facial diplegia, Ataxia, Cleft palate, Downslanted palpebral fissures, Morphological... ORPHA:96148
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Long philtrum... ORPHA:2311
Adult-Onset Nemaline Myopathy
High palate, Neuromuscular dysphagia, Nemaline bodies, Bradykinesia, Reduced vital capacity, Flex... ORPHA:171442
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Ventricular hypertro... OMIM:619048
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Convex nasal ridge, Low-set, posteriorly rotated ears, Genu varum, Carious teeth, H... ORPHA:1110
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Protruding ear, Hypodontia, Micrognathia, Abnormality of the dentitio... ORPHA:3253
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
X-Linked Mandibulofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, High palate, Mic... ORPHA:1131
Epilepsy, Progressive Myoclonic, 9
Microglossia, Short thumb, Generalized amyotrophy OMIM:616540
Joubert Syndrome 21
Sensorineural hearing impairment, Apnea, Ataxia, Oculomotor apraxia, Hyperechogenic kidneys, Rena... OMIM:615636
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Distal Monosomy 1Q
Thin vermilion border, Depressed nasal bridge, Micrognathia, Epicanthus, Low-set ears, Smooth phi... ORPHA:36367
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Weakness of facial musc... OMIM:265000
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Pontocerebellar Hypoplasia, Type 7
High palate, Apnea, Ataxia, Hydrocephalus, Broad nasal tip, Optic atrophy, Spasticity, Tongue fas... OMIM:614969
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Marshall Syndrome
Sensorineural hearing impairment, High palate, Thick upper lip vermilion, Malar flattening, Cleft... ORPHA:560
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb amyotrophy, Knee flexion contracture, Tongue atrophy, Upper limb amyotrophy, Proximal ... ORPHA:496689
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy OMIM:155900
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Hip contracture, Ankle flexion contracture, Abnormal muscle fiber morphology, Short ... ORPHA:1145
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ethanolaminosis
Cardiomegaly OMIM:227150
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Wieacker-Wolff Syndrome
High palate, Apnea, Broad alveolar ridges, Spasticity, U-Shaped upper lip vermilion, Congenital f... OMIM:314580
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Joint stiffness, Hypoplasia of penis, Abnormality of the nares, Hypogonadotropic hypogonadism, Hy... ORPHA:1295
Warsaw Breakage Syndrome
High palate, Wide mouth, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma, Epicanthus, ... OMIM:613398
Snakebite Envenomation
Diarrhea, Vomiting, Myocardial infarction, Respiratory failure, Muscle fiber necrosis, Abnormal b... ORPHA:449285
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Sensorineural hearing impairment, Aplasia of the inner ear, Supernumerary tooth, Hypodontia, Micr... ORPHA:90024
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
3Mc Syndrome 2
Cleft upper lip, Diastasis recti, Torticollis, Hypoplasia of the musculature, Cleft palate, Crani... OMIM:265050
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Nephropathy, Cochlear degeneration, Slowed slurred speech, Progressive sensorineural hear... OMIM:172500
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Genu... ORPHA:193
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Shoulder girdle mus... OMIM:158900
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Cleft palate, I... OMIM:253290
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Anteverted nares, Wide nose, Long philtrum, Hypoplasia of the zygomatic bone ORPHA:3074
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Neutrophil inclusion bodies, Bruising susceptibility, Abnormal ... OMIM:155100
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Low-set, posteriorly rotated ears, Epicanthus, Short nose, Anteverted... ORPHA:2015
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n... ORPHA:2162
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Carey-Fineman-Ziter Syndrome 1
High palate, Hypoplasia of the musculature, Flexion contracture, Cleft palate, Pectoralis hypopla... OMIM:254940
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion, High palate, Lumbar hyperlordo... OMIM:617796
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Joubert Syndrome 3
Neonatal breathing dysregulation, Ataxia, Episodic tachypnea, Nephronophthisis, Central apnea, Ep... OMIM:608629
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Rigidity, Neonatal death, Spasticity, Low-set ears, Res... OMIM:610127
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Respiratory insufficiency, Abnormality of the ureter, Abnormality of the spleen, Low... ORPHA:2487
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber... OMIM:258450
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Butterfly vertebrae, Retrognathia, Tracheoesophageal fistula, Unilateral renal ... OMIM:619227
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Abnormal rib morphology, Short thorax, Missing ribs, Block vertebrae, Vertebral fusion OMIM:613686
Frontonasal Dysplasia 1
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Broad nasal ti... OMIM:136760
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Cryptorchidism, Cleft palate, Supernumerary nipple, Retrognathia, Depressed nasal ... ORPHA:1812
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... OMIM:612290
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Wide mouth, Rib fusion, Bifid ribs, Sprengel anomaly, Narrow chest, Cleft palate... ORPHA:1394
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... OMIM:618500
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Schinzel-Giedion Syndrome
High palate, Wide mouth, Respiratory distress, Abnormal helix morphology, Infantile sensorineural... ORPHA:798
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Lower limb amyotrophy, Foot dorsi... ORPHA:90103
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abnormal vertebral seg... ORPHA:2345
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Prominent nose, Macrotia, Vertebral fu... OMIM:221950
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Underdeveloped tragus, Solit... OMIM:610829
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Dilated cardiomyopathy, Cryptorchidism, Hypertrophic cardiomyopathy, Bra... OMIM:618815
9Q33.3Q34.11 Microdeletion Syndrome
Abnormal pinna morphology, Bulbous nose, Constipation, Spastic tetraparesis, Patellar aplasia, Es... ORPHA:495818
Monosomy 13Q34
Pulmonic stenosis, Broad nasal tip, Epistaxis, Micrognathia, Hematochezia, Downslanted palpebral ... ORPHA:96168
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Wolff-Parkinson-White syndrome, Ataxia, Bradykinesia, Dysmetria... OMIM:601338
Carey-Fineman-Ziter Syndrome 2
Protruding ear, Velopharyngeal insufficiency, High, narrow palate, Abnormal skeletal muscle morph... OMIM:619941
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Bulbous nose, Narrow mouth, Cryptorchidism, Thin vermilion border, Depressed nasal bridge, Microg... OMIM:618766
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gin... ORPHA:1832
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Respiratory distress, Apnea, Aspiration pneumonia, Depressed nasal bridge, Myoclonus... ORPHA:314655
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sensorineural hearing impairment, Small for gestational age, Truncal ataxia, Kinetic tremor, Gait... OMIM:616817
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Maxillonasal Dysplasia
Tooth agenesis, Depressed nasal ridge, Vertebral clefting, Cleft palate, Depressed nasal bridge, ... ORPHA:1248
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed ... ORPHA:1529
Glutamine Deficiency, Congenital
Apnea, Flexion contracture, Thin vermilion border, Depressed nasal bridge, Micromelia, Neonatal d... OMIM:610015
Acute Promyelocytic Leukemia
Hematuria, Thrombocytopenia, Pancytopenia, Vertigo, Abnormal bleeding, Oral cavity bleeding, Ging... ORPHA:520
Hajdu-Cheney Syndrome
Hydrocephalus, Cleft palate, Osteopenia, Abnormality of the dentition, Short neck, Biconcave vert... ORPHA:955
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Congenital Fiber-Type Disproportion Myopathy
High palate, Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Pectu... ORPHA:2020
Auriculocondylar Syndrome 1
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Apnea, Cleft palat... OMIM:602483
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Low-set ears, Posteriorly rotated ears, Meckel diverticulum OMIM:300864
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Rib fusion, Vertebral fusion, Death in infancy OMIM:277300
Myopathy, Congenital, Progressive, With Scoliosis
High palate, Low-set ears, Facial hypotonia, Renal atrophy, Cryptorchidism, Depressed nasal ridge... OMIM:618578
Mosaic Trisomy 14
High palate, Wide mouth, Ectopic anus, Hypoplasia of penis, Cleft palate, Microtia, Hypospadias, ... ORPHA:1703
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Abnorm... ORPHA:1435
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Sparse eyebrow, Short fourth metatarsal, Broad nasal tip, Short philtrum, Depressed n... OMIM:619841
Pfeiffer Syndrome
High palate, Short philtrum, Short neck, Synostosis of carpal bones, Hypoplasia of the zygomatic ... ORPHA:710
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Cervi... OMIM:214300
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Posterior rib fusion, Abnormal rib morphology, Short thorax, Missing ribs ORPHA:1797
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Gait ataxia, Macrotia, Low-set ea... OMIM:609425
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Constipation, Depressed nasal bridge, Micrognathia, Hyperplasia of the... OMIM:617616
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Short sternum, Short philtrum, Bilateral conductive hearing impairment,... OMIM:186500
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Cleft palate, Depressed nasal bridge, Short neck,... ORPHA:485
Lamb-Shaffer Syndrome
Broad nasal tip, Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Thick verm... ORPHA:530983
Myopathy, Myofibrillar, 7
Limited hip extension, Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band ... OMIM:617114
Severe Oculo-Renal-Cerebellar Syndrome
Large earlobe, Wide mouth, Malar prominence, Scoliosis, Hypoplasia of the zygomatic bone, Protein... ORPHA:2715
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow mouth, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, H... ORPHA:990
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Atelosteogenesis, Type I
Stillbirth, Knee dislocation, Malar flattening, Cleft palate, Cryptorchidism, Depressed nasal bri... OMIM:108720
Aarskog-Scott Syndrome
Cleft upper lip, Genu recurvatum, Cleft palate, Everted lower lip vermilion, Abnormal vertebral s... ORPHA:915
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Midshaft hypospadias, Cryptorchidism, Renal hypoplasia... ORPHA:2863
Isotretinoin-Like Syndrome
Hydrocephalus, Thin anteverted nares, Aortic valve stenosis, Gastroesophageal reflux, Cleft palat... ORPHA:2306
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Chromosome 22Q11.2 Duplication Syndrome
High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Depressed nasal ridge, Micr... OMIM:608363
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Tetraamelia Syndrome 1
Cleft upper lip, Anal atresia, Hydrocephalus, Urethral atresia, Congenital diaphragmatic hernia, ... OMIM:273395
Hypophosphatasia, Childhood
Bowing of the legs, Craniosynostosis, Premature loss of primary teeth, Rachitic rosary, Carious t... OMIM:241510
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Dilated vestibule of the ... OMIM:611584
Ring Chromosome 7 Syndrome
Hydrocele testis, Median cleft palate, Cleft palate, Short philtrum, Prominent crus of helix, Hea... ORPHA:1449
Joubert Syndrome With Renal Defect
Apnea, Ataxia, Hydrocephalus, Cleft palate, Oculomotor apraxia, Abnormality of the hypothalamus-p... ORPHA:220497
Semilobar Holoprosencephaly
High palate, Hydrocephalus, Constipation, Cleft palate, Depressed nasal ridge, Abnormal hypothala... ORPHA:220386
Alobar Holoprosencephaly
High palate, Hydrocephalus, Constipation, Cleft palate, Depressed nasal ridge, Abnormal hypothala... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Hydrocephalus, Constipation, Cleft palate, Depressed nasal ridge, Abnormal hypothala... ORPHA:93926
Lobar Holoprosencephaly
High palate, Hydrocephalus, Constipation, Cleft palate, Depressed nasal ridge, Abnormal hypothala... ORPHA:93924
Metatropic Dysplasia
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... ORPHA:2635
Giant Cell Arteritis
Conductive hearing impairment, Ataxia, Mediastinal lymphadenopathy, Ptosis, Sudden cardiac death,... ORPHA:397
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochan... OMIM:156530
48,Xxyy Syndrome
Apnea, Ataxia, Constipation, Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of te... ORPHA:10
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Abnormality... ORPHA:1695
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse eyebrow, Sparse eyelashes, Abnormality of the dentition, Micrognathia, Abnormality of the ... OMIM:616901
Proboscis Lateralis
High palate, Abnormal morphology of bony orbit of skull, Abnormal location of the eyebrow, Optic ... ORPHA:141099
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Prolidase Deficiency
Abnormality of the middle ear, Depressed nasal ridge, Reduced bone mineral density, Splenomegaly,... ORPHA:742
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Intracranial hemorrhage, Cerebral palsy, Athetosis, Tinnitus, Adrenal hyperplasi... ORPHA:369929
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Myh9-Related Disease
Sensorineural hearing impairment, Nephritis, Bruising susceptibility, Neutrophil inclusion bodies... ORPHA:182050
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:261800
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Micrognathia, Hig... ORPHA:261120
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypertonia, Micropenis, Renal agenesis, Microtia, Hypospadias, Renal hypoplasia, Spastic tetrapar... ORPHA:171839
Glanzmann Thrombasthenia
Prolonged bleeding following circumcision, Bruising susceptibility, Macroscopic hematuria, Menorr... ORPHA:849
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Whistling Face Syndrome, Recessive Form
High palate, Kyphoscoliosis, Narrow mouth, Malar flattening, Micrognathia, Short neck, Long philt... OMIM:277720
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Broad nasal tip, Moderate hearing impairment, Recurrent otitis m... ORPHA:370010
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Depressed nasal bridge, Short philtrum, Downslanted palpebral fissures, Hypertonia, T... OMIM:615834
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
Chromosome 18P Deletion Syndrome
High palate, Tooth malposition, Micropenis, Micrognathia, Decreased testicular size, Macrotia, An... OMIM:146390
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Rib fusion, Abnormality of the tongue, Pectus excavatum, Abnormal sternum morphology... ORPHA:2990
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Stenosis of the external a... OMIM:616367
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Charge Syndrome
Aplasia of the semicircular canal, Cleft palate, Hemivertebrae, Tracheoesophageal fistula, Horses... OMIM:214800
Lujan-Fryns Syndrome
High palate, Protruding ear, Micrognathia, Camptodactyly of finger, Abnormality of the dentition,... ORPHA:776
Thymic Aplasia
Decreased proportion of naive T cells, Malabsorption, Sinusitis, Coombs-positive hemolytic anemia... ORPHA:83471
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Short ... ORPHA:163961
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Aplasia/Hypoplasia of the external ear, Spasticity, Neonatal respirat... ORPHA:168486
Basal Cell Nevus Syndrome
Cleft upper lip, Bifid ribs, Short distal phalanx of the thumb, Sprengel anomaly, Abnormal sternu... OMIM:109400
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Conductive hearing impairment, Microtia, Upslanted palpebral fissure, Micrognathia, ... OMIM:248910
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, High palate, Tooth malposition, Malar flattening, Everted lower li... ORPHA:1387
Primary Familial Polycythemia
Abnormal hemoglobin, Abnormal bleeding, Polycythemia, Cough, Exertional dyspnea, Dyspnea, Vertigo... ORPHA:90042
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Pectus excavatum, High, narrow palate, Camptodactyly of finger, Lo... ORPHA:1101
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Slender long bone, Abnormal rib morphology, Ab... ORPHA:1486
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Type II diabetes mellitus, Craniofacial hyperost... ORPHA:1133
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Convex nasal ridge, Hypoplasia of the ear cartilage, Abnormality of the ureter, Micr... ORPHA:1035
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Bulbous nose, Narrow mouth, Congenital diaphragmat... ORPHA:1780
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hypertonia, Hip contracture, Exaggerated startle response, Flexion contracture, Retrognath... OMIM:617301
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Upslanted palpebral fissure, Overfolded helix, Micrognathia, Abnormality of ... ORPHA:3409
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Burn-Mckeown Syndrome
Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Short palpebral fissure, Un... OMIM:608572
Orofaciodigital Syndrome Type 1
High palate, Cleft palate, Abnormality of the dentition, Lobulated tongue, Tongue nodules, Protei... ORPHA:2750
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Nodular changes affecting the eyelids, Abnormal bleeding, Abnormality of... ORPHA:79493
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Fraser Syndrome 1
Abnormal pinna morphology, Hydrocephalus, Cleft palate, Depressed nasal bridge, Cleft ala nasi, A... OMIM:219000
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Synostosis o... ORPHA:1836
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Facial Paresis, Hereditary Congenital, 3
Sensorineural hearing impairment, Depressed nasal bridge, Facial palsy, Micrognathia, Downturned ... OMIM:614744
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Congenital diaphragmatic hernia, Cleft palate, Craniosynostosis, Pyloric stenosis, Ha... ORPHA:261197
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypertonia, Protruding ear, Narrow mouth, Gastroesophageal reflux, Micrognathia, Camptodactyly of... ORPHA:1495
Rubinstein-Taybi Syndrome 2
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Convex nasal ridge, Intesti... OMIM:613684
Wild Type Attr Amyloidosis
Nephrotic syndrome, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Nephropat... ORPHA:330001
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Decreased hip abduction, Z-band streaming, Type 1 muscle fiber ... OMIM:605355
Myasthenic Syndrome, Congenital, 19
High palate, Gastroesophageal reflux, Retrognathia, Micrognathia, Respiratory insufficiency, Faci... OMIM:616720
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
High palate, Low-set ears, Protruding ear, Bulbous nose, Thick eyebrow, Broad nasal tip, Depresse... ORPHA:480907
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Limb ataxia, Limb hypertonia, Hyperechogenic kidneys, Failure to ... OMIM:617595
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Open bite, Abnormality of the glenoid fossa, J... ORPHA:2097
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, Renal hypoplasia OMIM:246560
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, T... ORPHA:3068
Trisomy 8P
Multiple joint contractures, Hydrocephalus, Constipation, Cleft palate, Short fourth metatarsal, ... ORPHA:264450
20P12.3 Microdeletion Syndrome
Narrow mouth, Malar flattening, Microtia, Depressed nasal bridge, Long philtrum, Hypoplasia of th... ORPHA:261295
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Narrow palate, Convex nasal ridge, Midface retrusio... ORPHA:207
Holoprosencephaly 3
Cleft palate, Holoprosencephaly, Malar flattening, Depressed nasal bridge, Bifid uvula, Abnormali... OMIM:142945
Hadziselimovic Syndrome
Failure to thrive, Low-set ears, Renal hypoplasia, Posteriorly rotated ears OMIM:612946
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, High palate, Thoracic scoliosis, Knee dislocation, Joint hypermo... OMIM:618000
Mcdonough Syndrome
Dental malocclusion, Protruding ear, Short palpebral fissure, Open bite, Micrognathia, Short phil... ORPHA:2471
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Long palpebral fissure, Delayed eruption of teeth, Widely spaced teeth, Hydronephrosis, Ma... OMIM:619797
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Tinnitus, Adren... ORPHA:251274
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Bulbous nose, Congenital diaphragmatic hernia, Cleft palate, Mi... OMIM:301022
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, 3-Methylglutaconic aciduria, Bradycardia OMIM:617248
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Dicarboxylic aciduria, Ventricular ... OMIM:212138
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Microretrognathia, Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, ... OMIM:236500
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple... OMIM:273050
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, High, narrow palate, Cryptorchidism, Hypoplasia o... ORPHA:2849
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteoscle... OMIM:122860
Apert Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Delayed eruption of teeth,... OMIM:101200
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Wiskott-Aldrich Syndrome
Otitis media, Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time,... ORPHA:906
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Abnormal pinna morphology, Renal hypoplasia OMIM:228940
Charge Syndrome
Cleft palate, Overfolded helix, Depressed nasal bridge, Hemivertebrae, Tracheoesophageal fistula,... ORPHA:138
Elsahy-Waters Syndrome
High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, ... OMIM:211380
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Orofaciodigital Syndrome Xvii
Low-set ears, Decreased body weight, Micropenis, Renal hypoplasia, Hearing impairment OMIM:617926
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Oral ulcer, Inflammation of the large intestine ORPHA:46488
Lowry-Maclean Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Osteopenia, Pyloric stenosis, Short nose, Short na... ORPHA:2409
Waldenström Macroglobulinemia
Malabsorption, Ataxia, Splenomegaly, Respiratory insufficiency, Diarrhea, Normocytic anemia, Reti... ORPHA:33226
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Unilateral renal agenesis, Posterior rib fusion, ... OMIM:608406
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Prolonged bleeding af... OMIM:231200
Lateral Meningocele Syndrome
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Cryptorchidis... OMIM:130720
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory tract infections... ORPHA:3078
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Protruding ear, Bulbous nose, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip v... OMIM:618737
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Low-set ears, Renal hypoplasia OMIM:617661
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Bruising susceptibility, Abnormal bleeding, Intracranial he... OMIM:173470
Spondylocostal Dysostosis 5
Posterior rib fusion, Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion OMIM:122600
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Muscle fiber necrosis, Testicular atrophy, Parkinsonism with fa... OMIM:157640
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... ORPHA:52368
Granulomatosis With Polyangiitis
Angina pectoris, Hemiplegia, Pancreatitis, Otitis media, Hematuria, Proteinuria, Gastrointestinal... ORPHA:900
Autism Spectrum Disorder Due To Auts2 Deficiency
Short philtrum, Spasticity, Hypertonia, Short palpebral fissure, Retrognathia, Micrognathia, Ante... ORPHA:352490
Isolated Pierre Robin Syndrome
Glossoptosis, Micrognathia, Cleft palate ORPHA:718
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Protruding ear, Camptodactyly of finger, Hypoplasia of the maxilla, Decreased testic... ORPHA:85279
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... ORPHA:95433
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... ORPHA:240103
Cardiofaciocutaneous Syndrome
High palate, Hydrocephalus, Depressed nasal bridge, Short neck, Scoliosis, Low-set, posteriorly r... ORPHA:1340
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, White eyebrow, Spasticity, Absent brainstem auditory responses, Hypoplasia of the semicir... OMIM:609136
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Flexion contracture, Broad nasal tip, Stereotypical hand wringing, Apneic episodes in infancy, Sp... ORPHA:500545
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Death in infancy, Centrally nucleated skeletal muscle fibers, Con... OMIM:615368
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Thin vermilion border, Micrognathia, Osteopenia, Delayed crania... OMIM:601812
Congenital Factor Xiii Deficiency
Joint hemorrhage, Persistent bleeding after trauma, Prolonged bleeding after dental extraction, I... ORPHA:331
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Reduced bone mineral density, Camp... ORPHA:1488
Nabais Sa-De Vries Syndrome, Type 2
High palate, Bulbous nose, Sparse eyebrow, Depressed nasal bridge, Chorea, Microtia, Micrognathia... OMIM:618829
Wyburn-Mason Syndrome
Cerebral hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Hemiparesis, Tinnitus, Gingival ble... ORPHA:53719
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Constipation, Quadriceps muscle weakness, Tremor, Cogwheel rigidity, Red... ORPHA:254892
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Joubert Syndrome
Apnea, Ataxia, Hydrocephalus, Episodic tachypnea, Oculomotor apraxia, Encephalocele, Abnormality ... ORPHA:475
Intellectual Developmental Disorder, Autosomal Dominant 23
Bulbous nose, Upslanted palpebral fissure, Depressed nasal bridge, Hypospadias, Micrognathia, Lon... OMIM:615761
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Ataxia, Abnormal cochlea morphology ORPHA:231183
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Fetal Akinesia Deformation Sequence 2
High palate, Cryptorchidism, Cleft palate, Flexion contracture, Micrognathia, Respiratory insuffi... OMIM:618388
Typhoid
Cardiac arrest, Ataxia, Hypertonia, Constipation, Splenomegaly, Diarrhea, Arrhythmia, Cough, Trem... ORPHA:99745
Autosomal Dominant Spastic Paraplegia Type 3
Distal lower limb muscle weakness, Bradykinesia, Ankle clonus, Babinski sign, Rigidity, Urinary u... ORPHA:100984
Myasthenic Syndrome, Congenital, 10
Weakness of facial musculature, Tongue atrophy, Proximal amyotrophy, Distal amyotrophy OMIM:254300
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Joubert Syndrome With Oculorenal Defect
Apnea, Ataxia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Highly arched eyebr... ORPHA:2318
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Periphera... OMIM:617519
Roberts-Sc Phocomelia Syndrome
High palate, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Shallow orbits, Long penis, ... OMIM:268300
Orofaciodigital Syndrome Xvi
Apnea, Ataxia, Short palpebral fissure, Retrognathia, Depressed nasal bridge, Hamartoma of tongue... OMIM:617563
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Hypoplastic distal segments of scapulae, Abnormal rib morphology,... OMIM:602196
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Tinnitus, Adrenal hyperplasia, Abnormal circulating renin, Nausea, Hyper... ORPHA:403
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment OMIM:133705
2Q24 Microdeletion Syndrome
Cleft palate, Short philtrum, Camptodactyly of finger, Low-set, posteriorly rotated ears, Central... ORPHA:1617
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Renal agenesis, Renal hypoplasia, Hydronephrosis, Recurrent otitis media, Hearing i... OMIM:618494
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus excavatum, Cleft palate, Glossoptosis, Osteoarthritis, Long philtrum, Pectus carinatum, Ab... ORPHA:166100
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Thoracic hemivertebra... OMIM:309620
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Tachycardia, Hep... OMIM:618280
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... OMIM:118100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Missing ribs, Bowing of the l...