Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Six1 MGI:102780

Gene Summary

Name:

sine oculis-related homeobox 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal kidney morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
small spleen	Six1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta vasculature	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
decreased prepulse inhibition	Six1^em1(IMPC)Mbp	HET	Early adult	7.54×10^-08
abnormal placenta morphology	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal heart morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal retina morphology	Six1^em1(IMPC)Mbp	HET	Early adult	6.70×10^-05
prolonged RR interval	Six1^em1(IMPC)Mbp	HET	Late adult	1.91×10^-10
decreased circulating calcium level	Six1^em1(IMPC)Mbp	HET	Early adult	4.80×10^-05
abnormal blood vessel morphology	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
enlarged heart	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
small kidney	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal blood vessel morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Six1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
decreased leukocyte cell number	Six1^em1(IMPC)Mbp	HET	Late adult	4.97×10^-07
abnormal skin morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
decreased heart rate	Six1^em1(IMPC)Mbp	HET	Late adult	1.14×10^-07
abnormal uterus morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
embryonic growth retardation	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged spleen	Six1^em1(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

Gross Morphology Embryo E14.5-E15.5

Images

26 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View 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.

Human diseases associated with Six1 (4 diseases)
Human diseases predicted to be associated with Six1 (2969 diseases)

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

Disease	Matching phenotypes	Source
Bor Syndrome	Multicystic kidney dysplasia, Atresia of the external auditory canal, Hearing impairment, Retrogn...	ORPHA:107
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
Branchiootic Syndrome	Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can...	ORPHA:52429
Branchiootic Syndrome 3	Sensorineural hearing impairment	OMIM:608389

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

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit...	OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A...	ORPHA:3232
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	OMIM:620227
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Deafness, Conductive, With Malformed External Ear	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin...	OMIM:221300
Facial Paresis, Hereditary Congenital, 2	Facial palsy, Hearing impairment	OMIM:604185
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Sprengel Deformity	Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Torticollis, Cleft ...	ORPHA:3181
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ...	ORPHA:3216
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari...	OMIM:616515
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Abnormal thorax morphology, Neonatal deat...	OMIM:253310
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Atresia Of External Auditory Canal And Conductive Deafness	Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a...	OMIM:108760
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ...	OMIM:611572
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Non-Syndromic Genetic Deafness	Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine...	ORPHA:87884
7Q31 Microdeletion Syndrome	Low-set ears, Galactosuria, Enuresis nocturna, Gastroesophageal reflux, Skeletal muscle atrophy, ...	ORPHA:251061
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Bor Syndrome	Multicystic kidney dysplasia, Atresia of the external auditory canal, Hearing impairment, Retrogn...	ORPHA:107
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct...	OMIM:113650
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	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal...	OMIM:619902
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Nemaline bodies, Underdeveloped nasal alae, Long philtrum, Bulbous nose, Micrognath...	OMIM:616549
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Abnormal tympanic membrane morphology, Unilateral conductive hearing imp...	ORPHA:100084
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Sprengel Deformity	Neck muscle hypoplasia, Sprengel anomaly, Rib segmentation abnormalities, Shoulder muscle hypoplasia	OMIM:184400
Otosclerosis 11	Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im...	OMIM:620576
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Auriculocondylar Syndrome 2A	Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Stenosis of the external auditory c...	OMIM:614669
Mullegama-Klein-Martinez Syndrome	Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern...	OMIM:301022
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnorma...	ORPHA:3268
Monosomy 22	Contractures of the large joints, Long philtrum, Retrognathia, Low-set, posteriorly rotated ears,...	ORPHA:96123
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Anteverted nares, Abnormal palate morphology, Hydronephrosis, Epicanth...	ORPHA:1450
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ...	OMIM:601382
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Spondylocostal Dysostosis 3, Autosomal Recessive	Rib fusion, Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger, ...	OMIM:609813
Deafness, Unilateral	Unilateral deafness	OMIM:125000
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea...	OMIM:303110
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, 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
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:221320
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal reticulocyte morphology, Hyperplasia of midface, Abnormality of the ureter...	ORPHA:2522
Pendred Syndrome	Nephropathy, Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impai...	ORPHA:705
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Osteopenia, Hypoplasia of the musculature, Small hypothenar eminence, Thin metatarsal ...	ORPHA:2463
Marinesco-Sjögren Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Pectus carinatum, Skel...	ORPHA:559
Pontocerebellar Hypoplasia, Type 16	Low-set ears, Optic atrophy, Skeletal muscle atrophy, Recurrent urinary tract infections, Promine...	OMIM:619527
Stapes Ankylosis With Broad Thumbs And Toes	Congenital stapes ankylosis, Conductive hearing impairment, Stapes ankylosis	OMIM:184460
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Pectus carinatum, Abnormal tibia morphology, Rib fusion, Supernum...	ORPHA:64755
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud...	OMIM:620186
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, High palate, Tap...	OMIM:620369
Flat Face-Microstomia-Ear Anomaly Syndrome	Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, High, narrow palate, Abnormal oral mucosa ...	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	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2926
Hydrolethalus Syndrome 1	Low-set ears, Accessory spleen, Midline defect of the nose, Micrognathia, Anencephaly, Hydronephr...	OMIM:236680
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Highly arched eyebrow, Profound sensorineural hearing impairment,...	OMIM:620469
Renal, Genital, And Middle Ear Anomalies	Abnormality of the middle ear ossicles, Hearing impairment	OMIM:267400
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos...	ORPHA:2790
Meier-Gorlin Syndrome 8	Low-set ears, Nephroptosis, Unilateral renal hypoplasia, Decreased body weight, Microtia	OMIM:617564
Cervical Rib	Cervical ribs	OMIM:117900
Lipedema	Edema	OMIM:614103
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Cranial nerve paralysis	ORPHA:85179
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va...	ORPHA:2972
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Abnormality of the middle e...	ORPHA:861
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hea...	ORPHA:245
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Pontocerebellar Hypoplasia, Type 7	Low-set ears, Tongue fasciculations, Spasticity, Thick upper lip vermilion, Micrognathia, Cryptor...	OMIM:614969
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Auriculocondylar Syndrome 4	Hearing impairment, Question mark ear, Apnea, Narrow mouth, Micrognathia, Glossoptosis, Cleft palate	OMIM:620457
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Prominent nasal bridge, Increased overbite, Protr...	ORPHA:319171
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ...	OMIM:181405
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Low-set ears, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum,...	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	Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Limitation of joi...	ORPHA:3145
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Low-set ears, Tooth malposition, Short 5th finger, Horizontal eyebrow, Hearing impairment, Anteve...	OMIM:618608
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Depressed nasal bridge, Abnormal B cell morphology, Broad nasal tip, Cupped ear, Cl...	OMIM:618223
17Q21.31 Microduplication Syndrome	Abnormality of the outer ear, Abnormality of the dentition, Anteverted nares, Micrognathia, Thick...	ORPHA:217340
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Deafness, X-Linked 5, With Peripheral Neuropathy	Sensory axonal neuropathy, Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear ...	OMIM:300614
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Nemaline Myopathy 2	Low-set ears, Increased variability in muscle fiber diameter, Narrow mouth, Limb muscle weakness,...	OMIM:256030
Wieacker-Wolff Syndrome	Low-set ears, Broad alveolar ridges, Spasticity, Distal amyotrophy, Retrognathia, Long philtrum, ...	OMIM:314580
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Midface retrusion, Hypopl...	ORPHA:1798
Branchiootic Syndrome	Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can...	ORPHA:52429
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Protruding ear, Hyd...	ORPHA:1920
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Otofaciocervical Syndrome 1	Cupped ear, Conductive hearing impairment, Narrow nose, Scapular winging, Mixed hearing impairmen...	OMIM:166780
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Velopharyngeal insufficiency, Lobar holoprosencephaly, Short nose, Gastroesophageal...	OMIM:614701
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Retrognathia, Sensorineural hearing ...	OMIM:602588
Cleidocranial Dysplasia	Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, Decreased skull ossifica...	ORPHA:1452
Trimethylaminuria	Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ...	OMIM:610706
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Choanal atresia, Depressed nasal bridge, Midface retrusion, H...	ORPHA:1555
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Microretrognathia, Carious teeth, Hypoplasia of the zygomatic bone,...	ORPHA:1786
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ...	ORPHA:79113
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Hearing impairment, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Co...	ORPHA:254886
Aural Atresia, Congenital	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Joubert Syndrome 3	Low-set ears, Wide nasal bridge, Highly arched eyebrow, Nephronophthisis, Episodic tachypnea, Ant...	OMIM:608629
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Preaxial ...	ORPHA:1988
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Small hand, Resting tremor, Micrognathia, Parkinsonism, Ataxia, Bradykinesia, High palate, Spasti...	OMIM:300055
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Low-se...	ORPHA:83
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
X-Linked Intellectual Disability, Seemanova Type	High palate, Hypoplasia of the musculature, Skeletal muscle atrophy	ORPHA:85323
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Bilateral cryptorchidism, Prom...	OMIM:617796
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Amyoplasia, Increased susceptibility...	OMIM:312150
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Spasticity, Micrognathia, Epicanthus, Clonus, Ataxia,...	ORPHA:96148
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ...	ORPHA:1826
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Long philtrum, Camptodactyly of finger, Abnormal rib morphology, Congenital di...	ORPHA:2311
Acro-Renal-Mandibular Syndrome	Kyphosis, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Low-set, posteriorl...	ORPHA:958
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de...	ORPHA:1388
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Hyperechogenic kidneys, Apnea, Splenomegaly, Megalopapill...	OMIM:615636
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Wide nasal bridge, Abnormality of the dentition, Carious teeth, Midface retrusion, Hypoplasia of ...	ORPHA:3253
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Low-set, posteriorl...	ORPHA:1110
48,Xxyy Syndrome	Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Epicanthus, Blepharophimosis...	ORPHA:10
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Dental crowding, Hypopl...	ORPHA:293939
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Depressed nasal bridge, Sparse lateral eyebrow, Downslanted palpebral fissures, Res...	ORPHA:314655
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear...	ORPHA:1131
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Apert Syndrome	Sensorineural hearing impairment, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Choanal...	ORPHA:87
Distal Deletion 1Q	Low-set ears, Depressed nasal bridge, Micrognathia, Smooth philtrum, Epicanthus, Thin vermilion b...	ORPHA:36367
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Failure to thrive, Gait ataxia, Motor stereotypy, Aggressive behavior, Hyperactivit...	OMIM:609425
Craniometaphyseal Dysplasia	Abnormal cranial nerve morphology, Facial palsy, Conductive hearing impairment, Sensorineural hea...	ORPHA:1522
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Narr...	OMIM:265000
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Hypotension, Renal amyloidosis, Abnorma...	ORPHA:85445
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Arthrog...	ORPHA:171439
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio...	ORPHA:560
Glutamine Deficiency, Congenital	Low-set ears, Depressed nasal bridge, Wide nasal bridge, Micromelia, Anteverted nares, Apnea, Neo...	OMIM:610015
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Hepatic steatosis, Left ventricular hypertroph...	OMIM:619048
Holoprosencephaly 9	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Cryptorchidism, Bi...	OMIM:610829
Ceroid Lipofuscinosis, Neuronal, 10	Low-set ears, Wide nasal bridge, Spasticity, Apnea, Rigidity, Neonatal death, Ataxia	OMIM:610127
Joubert Syndrome With Renal Defect	Nephropathy, Highly arched eyebrow, Abnormal pattern of respiration, Low-set, posteriorly rotated...	ORPHA:220497
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Genu valgum, Thin upper lip vermilion...	ORPHA:1295
Ethanolaminosis	Cardiomegaly	OMIM:227150
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Tongue atrophy, Lower limb amy...	ORPHA:496689
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Auriculocondylar Syndrome 1	Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,...	OMIM:602483
Facioscapulohumeral Muscular Dystrophy 1	Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul...	OMIM:158900
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Sensor...	ORPHA:193
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Wide nose	ORPHA:3074
Shashi-Pena Syndrome	Low-set ears, Unilateral renal agenesis, Broad nasal tip, Cupped ear, Retrognathia, Thin upper li...	OMIM:617190
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge...	OMIM:311895
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Infantile-Onset X-Linked Spinal Muscular Atrophy	Tongue fasciculations, Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint ...	ORPHA:1145
Warsaw Breakage Syndrome	Cupped ear, Hearing impairment, Optic disc coloboma, Epicanthus, High palate, Wide mouth, Hypopla...	OMIM:613398
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Conical tooth, Hearing impairment, Underdeveloped nasal alae, Widely spaced te...	ORPHA:90024
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Cerebrofaciothoracic Dysplasia	Narrow chest, Cleft upper lip, Rib fusion, Sprengel anomaly, Bifid ribs, Broad philtrum, Wide mou...	ORPHA:1394
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit...	OMIM:155100
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Thin upper lip vermilion, Epic...	ORPHA:2015
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Low-set ears, Wide nasal bridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Joint ...	OMIM:617333
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Downslanted palpebral fissures, ...	OMIM:122880
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Amyoplasia, Increased susceptibility to fractures, Mu...	OMIM:253290
Holoprosencephaly	Abnormality of the spleen, Abnormal antihelix morphology, Congenital diaphragmatic hernia, Crypto...	ORPHA:2162
Snakebite Envenomation	Gingival bleeding, Diarrhea, Hypopituitarism, Rhabdomyolysis, Tachycardia, Acute kidney injury, E...	ORPHA:449285
Chromosome 22Q11.2 Duplication Syndrome	Low-set ears, Depressed nasal ridge, Velopharyngeal insufficiency, Downslanted palpebral fissures...	OMIM:608363
Frontonasal Dysplasia 1	Low-set ears, Wide nasal bridge, Joint contracture of the hand, Hypoplasia of the maxilla, Conduc...	OMIM:136760
Glycine Encephalopathy With Normal Serum Glycine	Low-set ears, Depressed nasal bridge, Optic atrophy, Arthrogryposis multiplex congenita, Retrogna...	OMIM:617301
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Unilateral renal agenesis, Choanal atresia, Preauricular skin tag, Retrognathia, Pr...	OMIM:619227
3Mc Syndrome 2	Hypoplasia of the musculature, Caudal appendage, Downturned corners of mouth, Cleft upper lip, Pa...	OMIM:265050
Melkersson-Rosenthal Syndrome	Furrowed tongue, Facial palsy	OMIM:155900
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh...	OMIM:617405
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Microglossia, Skeletal muscle atrophy, Pectoralis hypoplasia, Myop...	OMIM:254940
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumera...	ORPHA:1812
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl...	OMIM:616052
Intellectual Developmental Disorder, Autosomal Dominant 56	Ataxia, Spasticity, Gastroesophageal reflux, Long philtrum, Bradykinesia, Open mouth, Upslanted p...	OMIM:617854
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, He...	OMIM:601596
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Spasticity, Abnormality of...	ORPHA:798
Isolated Klippel-Feil Syndrome	Hearing impairment, Abnormality of the vertebral column, Congenital muscular torticollis, Cervica...	ORPHA:2345
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Renal hypoplasia, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperact...	OMIM:620439
Ring Chromosome 7 Syndrome	Small hand, Narrow naris, Prominent crus of helix, Narrow mouth, Epicanthus, Holoprosencephaly, H...	ORPHA:1449
Noonan Syndrome	Osteopenia, Midface retrusion, Juvenile myelomonocytic leukemia, Delayed skeletal maturation, Thi...	ORPHA:648
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Apnea, Cryptorchidism,...	OMIM:619797
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Hyp...	OMIM:618815
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Midface retrusion, Toot...	ORPHA:1248
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Dilated...	ORPHA:171442
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Calf muscle hypoplasia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal lower lim...	ORPHA:90103
Glass Syndrome	Low-set ears, Micrognathia, Narrow mouth, Long nose, High palate, Pierre-Robin sequence, Broad na...	OMIM:612313
Carey-Fineman-Ziter Syndrome 2	Low-set ears, High, narrow palate, Hooded upper eyelid, Dental crowding, Velopharyngeal insuffici...	OMIM:619941
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ...	OMIM:248390
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Low-set ears, Depressed nasal bridge, Optic atrophy, Spasticity, Bulbous nose, Micrognathia, Narr...	OMIM:618766
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Meckel diverticulum, Retrognathia, Thick nasal alae, Episodic tachypnea, Micrognath...	ORPHA:163961
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Mitral regurgitation, Senso...	OMIM:258450
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Narrow mouth, High palate, Short foot, Pierre-Robin sequen...	OMIM:611209
Otosclerosis 4	Mixed hearing impairment, Otosclerosis	OMIM:611571
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Monosomy 13Q34	Epistaxis, Hematochezia, Broad nasal tip, Horizontal eyebrow, Abnormal earlobe morphology, Downsl...	ORPHA:96168
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium, Hypoplasia of the musculature, Cleft palate, Joint contracture	OMIM:225790
Acute Promyelocytic Leukemia	Gingival bleeding, Pancytopenia, Hematuria, Neutropenia, Purpura, Stomatitis, Diffuse alveolar he...	ORPHA:520
Kniest Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Hearing impairment, Abnormal...	ORPHA:485
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Recurrent upper respiratory tract infections, Spasticity, Contractures of the larg...	ORPHA:3078
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Broad nasal tip, Upper limb muscle weakness, Recurrent otitis media, Moderate hearing impairment,...	ORPHA:370010
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci...	ORPHA:98807
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove...	ORPHA:50815
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl...	ORPHA:1435
Pontocerebellar Hypoplasia, Type 6	Spasticity, Gastroesophageal reflux, Elbow contracture, Apnea, Prominent nasal bridge, Death in c...	OMIM:611523
Mosaic Trisomy 14	Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Anteverted nares, ...	ORPHA:1703
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Pfeiffer Syndrome	Wide nasal bridge, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Shor...	ORPHA:710
Fetal Akinesia Deformation Sequence 4	Low-set ears, Wide nasal bridge, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Ret...	OMIM:618393
Lamb-Shaffer Syndrome	Broad nasal tip, Thoracic kyphosis, Micrognathia, Thick vermilion border, Scoliosis, Fused cervic...	ORPHA:530983
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Tented philtrum, Esophagitis, Narrow mouth, Cryptorchidism, Patellar aplasia, Telan...	ORPHA:495818
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c...	OMIM:615415
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Cleft upper lip, Sensorineural hearing impairment, Cervical C2/C3 ...	OMIM:214300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Hajdu-Cheney Syndrome	Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased...	ORPHA:955
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Depressed nasal ridge, Retrognathia, Respiratory distress, Anteverted nares, Gingiv...	ORPHA:1832
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Missing ribs, Abnormal rib morphology, Posterior rib fusion, Cleft palate	ORPHA:1797
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion, Vertebral fusion, Block vertebrae, Death in infancy	OMIM:277300
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Aarskog-Scott Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Genu recurvatum, Dela...	ORPHA:915
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b...	ORPHA:100973
Mucopolysaccharidosis Type 1	Hearing impairment, Sensorineural hearing impairment, Everted lower lip vermilion, Chronic otitis...	ORPHA:579
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Joubert Syndrome	Low-set ears, Highly arched eyebrow, Abnormal pattern of respiration, Episodic tachypnea, Antever...	ORPHA:475
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Cryptorchidism, Sensorineural ...	OMIM:619841
Isotretinoin-Like Syndrome	Aortic valve stenosis, Gastroesophageal reflux, Atresia of the external auditory canal, Anotia, A...	ORPHA:2306
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Ataxia, Optic atrophy, Progressive sensorineural hearing impairment, Hearing impairment, Episodic...	OMIM:601338
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Congenital hip dislocation, Dental crow...	ORPHA:2020
Multiple Synostoses Syndrome 1	Hypoplastic nasal septum, Bilateral conductive hearing impairment, Thick upper lip vermilion, Low...	OMIM:186500
Severe Oculo-Renal-Cerebellar Syndrome	Hypoplasia of the zygomatic bone, Large earlobe, Malar prominence, Wide mouth, Renal insufficienc...	ORPHA:2715
Joubert Syndrome With Oculorenal Defect	Nephropathy, Highly arched eyebrow, Low-set, posteriorly rotated ears, Anteverted nares, Prominen...	ORPHA:2318
Short Stature-Wormian Bones-Dextrocardia Syndrome	Low-set ears, Wide nasal bridge, Midshaft hypospadias, Broad alveolar ridges, Spasticity, Delayed...	ORPHA:2863
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Skeletal muscle atrophy, Hearing impairment, Resting tremor, Incoordination,...	OMIM:615157
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Narrow naris, Narrow mouth, Blepharophimosis, High palate, Aortic regurgitation, Hy...	OMIM:617402
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Conductive hearing impairment	OMIM:616726
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Patellar dislocation, Finger joint hype...	OMIM:620663
Atelosteogenesis, Type I	Low-set ears, Depressed nasal bridge, Midface retrusion, Elbow dislocation, Stillbirth, Knee disl...	OMIM:108720
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Prolidase Deficiency	Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Hypoplasia of the zygomatic bone, H...	ORPHA:742
Pheochromocytoma/Paraganglioma Syndrome 1	Conductive hearing impairment, Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal ...	OMIM:168000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Spasticity, Hearing impairment, Hypertrophic cardiomyopathy, Apnea, Death in infancy, Bradycardia...	OMIM:616277
Hypophosphatasia, Childhood	Carious teeth, Rachitic rosary, Premature loss of primary teeth, Myopathy, Craniosynostosis, Bowi...	OMIM:241510
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Waardenburg Syndrome, Type 2E	Anosmia, Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear...	OMIM:611584
Orofaciodigital Syndrome Xvi	Low-set ears, Depressed nasal bridge, Short palpebral fissure, Retrognathia, Hamartoma of tongue,...	OMIM:617563
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Treacher Collins Syndrome 2	Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th...	OMIM:613717
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Vertigo, Gait ataxia, Abnormal pyramidal sign, Tremor b...	ORPHA:101110
Genitopatellar Syndrome	Low-set ears, Multicystic kidney dysplasia, Gastroesophageal reflux, Hearing impairment, Delayed ...	ORPHA:85201
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Low-set, posteriorly rotated ears, Downslanted palpebral fissures, Abnor...	ORPHA:1617
Autosomal Recessive Multiple Pterygium Syndrome	Axillary pterygium, Popliteal pterygium, Skeletal muscle atrophy, Limitation of joint mobility, L...	ORPHA:2990
Non-Distal Duplication 10Q	Depressed nasal bridge, Abnormality of the urinary system, Downslanted palpebral fissures, Low-se...	ORPHA:1695
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Aplasia/Hypoplasia involving the nose, Low-set, posteriorly rotated ears, Narrow in...	ORPHA:990
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Sacral dimp...	OMIM:613603
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial diplegia, Diap...	OMIM:122860
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Highly arched eyebrow, Sparse lateral eyebrow, Long philtrum, Low-set, po...	ORPHA:261120
Spondylometaphyseal Dysplasia, Type A4	Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc...	OMIM:609052
Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence	OMIM:261800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Micrognathia, Abnormal pyramidal sign, Hypomimic face, High palate, Dysphagia, Shor...	OMIM:617527
Metatropic Dysplasia	Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph...	OMIM:156530
Whistling Face Syndrome, Recessive Form	Whistling appearance, Microglossia, Shoulder flexion contracture, Midface retrusion, Underdevelop...	OMIM:277720
Congenital Myopathy 19	Low-set ears, Depressed nasal ridge, Skeletal muscle atrophy, Hearing impairment, Congenital cont...	OMIM:618578
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Preauricular skin tag, Cupped ear, Co...	OMIM:616367
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atr...	OMIM:620285
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Cutis Laxa, Autosomal Recessive, Type Iid	Low-set ears, Wide nasal bridge, Retrognathia, Narrow naris, Bilateral cryptorchidism, Bulbous no...	OMIM:617403
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Proboscis Lateralis	Unilateral narrow palpebral fissure, Abnormal nasolacrimal system morphology, Epicanthus, Abnorma...	ORPHA:141099
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Metatropic Dysplasia	Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodacty...	ORPHA:2635
Tetraamelia Syndrome 1	Low-set ears, Choanal atresia, Renal agenesis, Cleft upper lip, Micrognathia, Adrenal gland agene...	OMIM:273395
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Prolonged bleeding time, Renal ...	ORPHA:182050
Semilobar Holoprosencephaly	Spasticity, Sensorineural hearing impairment, Abnormal heart rate variability, High palate, Dysph...	ORPHA:220386
Alobar Holoprosencephaly	Spasticity, Sensorineural hearing impairment, Abnormal heart rate variability, High palate, Dysph...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Sensorineural hearing impairment, Abnormal heart rate variability, High palate, Dysph...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Sensorineural hearing impairment, Abnormal heart rate variability, High palate, Dysph...	ORPHA:93924
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Rib fusion, Hand polydactyly, Craniosynostosis, Cleft palate, Py...	ORPHA:261197
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Wide nasal bridge, Spasticity, Aplasia/Hypoplasia of the external ear, Apnea	ORPHA:168486
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Giant Cell Arteritis	Ataxia, Epistaxis, Optic atrophy, Vasculitis, Conductive hearing impairment, Hearing impairment, ...	ORPHA:397
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Oral-pharyngeal dyspha...	ORPHA:480907
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Basal Cell Nevus Syndrome 1	Irregular ossification of hand bones, Short distal phalanx of the thumb, Cleft upper lip, Abnorma...	OMIM:109400
Lujan-Fryns Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac...	ORPHA:776
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Cutaneous mastocytos...	OMIM:248910
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Spastic paraplegia, Second degree atrioventricular block, Cerebral palsy, Hyperaldoste...	ORPHA:369929
Intellectual Developmental Disorder, Autosomal Dominant 26	Low-set ears, Micrognathia, Narrow mouth, Epicanthus, Prominent nasal tip, Short palpebral fissur...	OMIM:615834
Holoprosencephaly 3	Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel...	OMIM:142945
Brooke-Spiegler Syndrome	Abnormal bleeding, Hearing impairment, Abnormality of the submandibular glands, Salivary gland ne...	ORPHA:79493
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of t...	ORPHA:83471
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Skeletal muscle atrophy, Slender long bone, Abnormal hip bone morph...	ORPHA:1486
Charge Syndrome	Low-set ears, Lymphopenia, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Radial...	OMIM:214800
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Tenorio Syndrome	Macroglossia, Mandibular prognathia, Gastroesophageal reflux, Cerebral palsy, Recurrent aphthous ...	OMIM:616260
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morpholo...	ORPHA:906
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Umbilical hernia, Knee dislocation, Shoulder dislocation, Micrognathia, Cryptorchidis...	OMIM:618000
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Tooth malposition, Midface retrusion, Low-set, posteriorly rotated ears, ...	ORPHA:1387
Thakker-Donnai Syndrome	Downturned corners of mouth, Bulbous nose, Anteverted nares, Narrow mouth, Congenital diaphragmat...	ORPHA:1780
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Gaucher Disease, Perinatal Lethal	Low-set ears, Everted upper lip vermilion, Hepatosplenomegaly, Micrognathia, Open mouth, Narrow m...	OMIM:608013
Joubert Syndrome With Hepatic Defect	Low-set ears, Nephropathy, Multicystic kidney dysplasia, Highly arched eyebrow, Occipital encepha...	ORPHA:1454
Smith-Magenis Syndrome	Wide nasal bridge, Abnormality of the outer ear, Abnormality of the dentition, Abnormal nerve con...	OMIM:182290
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Hearing impairment, Open bite, Micrognathia, High palate, Tarsal sy...	ORPHA:2750
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Low-set, posteriorly rotated ears, Abnormali...	ORPHA:1133
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the musculature, Ulnar deviation of finger, Long philtrum, Cam...	ORPHA:1101
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Catel-Manzke Syndrome	Low-set ears, Narrow naris, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Short metaca...	OMIM:616145
Epilepsy, Progressive Myoclonic, 9	Microglossia, Short thumb, Generalized amyotrophy	OMIM:616540
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Abnormality of the spleen, Abnormality of the ureter, Hypospad...	ORPHA:2487
Treacher Collins Syndrome 4	Conductive hearing impairment	OMIM:618939
Burn-Mckeown Syndrome	Hearing impairment, Bilateral choanal atresia/stenosis, Micrognathia, Narrow mouth, Blepharophimo...	OMIM:608572
Autosomal Dominant Spastic Paraplegia Type 3	Distal lower limb amyotrophy, Rigidity, Distal lower limb muscle weakness, Babinski sign, Ankle c...	ORPHA:100984
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing...	OMIM:101200
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616276
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Abnormal helix morphology, Joint contracture of the hand, Apnea, Micrognathia, Cry...	OMIM:214110
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Hearing impairment, Gait ataxia, Sensorineural hearing impairment, Truncal atax...	OMIM:616817
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Verheij Syndrome	Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Retrognathia, Long philtrum, Branchial cyst...	OMIM:615583
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Cryptorchidism, Short neck, Small thenar eminence, Hip dislocation, S...	OMIM:613458
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis...	ORPHA:2097
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Abnormal pattern of respiration, Low-set, posteriorly rotated ears, Anteve...	ORPHA:220493
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ...	ORPHA:3236
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Camptodactyly of finger, Hypogonadism, Abnormality of the ure...	ORPHA:3409
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Micromelia, Downslanted palpebral fissures, Low-set, posteriorly...	ORPHA:1035
Elsahy-Waters Syndrome	Low-set ears, High palate, Hypospadias, Wide nose, Hypoplasia of the maxilla, Midface retrusion, ...	OMIM:211380
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hearing impairment, Obesity, Renal insufficiency, Hydronephrosis	OMIM:615996
Gorlin Syndrome	Carious teeth, Rib fusion, Arachnodactyly, Orofacial cleft, Brachydactyly, Odontogenic keratocyst...	ORPHA:377
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mi...	ORPHA:207
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Christian Syndrome	Wide nasal bridge, Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Pro...	OMIM:309620
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Spondylocostal Dysostosis 5	Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion, Posterior rib fusion	OMIM:122600
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Craniofacial hyperostosis, Skeletal muscle atrophy, Limitation of joint mobilit...	ORPHA:3068
Orofaciodigital Syndrome Type 6	Micrognathia, Renal hypoplasia/aplasia, Epicanthus, Ataxia, High palate, Broad nasal tip, Midline...	ORPHA:2754
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth...	ORPHA:261295
Tarp Syndrome	Hearing impairment, Extramedullary hematopoiesis, Micrognathia, Abnormal antihelix morphology, Cr...	ORPHA:2886
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Diarrhea, Arrhythmia, High palate, Polycystic kidney dysplasia, Renal dysplasia, Bu...	OMIM:608836
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Hearing impairment, Hepatosplenomegaly, Cryptorchidism, Sensorin...	OMIM:609136
Glycogen Storage Disease Iv	Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Tubulointerstitial f...	OMIM:232500
Primary Familial Polycythemia	Epistaxis, Abnormal bleeding, Polycythemia, Vertigo, Abnormal hemoglobin, Exertional dyspnea, Dys...	ORPHA:90042
Familial Expansile Osteolysis	Conductive hearing impairment	OMIM:174810
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Midface retrusion, Bulbous nose, Protruding ear, Thin upper lip vermil...	OMIM:618737
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Underdeveloped nasal alae, Low-set, posteriorly rot...	ORPHA:2471
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Convex nasal ridge,...	OMIM:156510
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Perlman Syndrome	Low-set ears, Wide nasal bridge, High, narrow palate, Retrognathia, Abnormal pancreas morphology,...	ORPHA:2849
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Split-Hand/Foot Malformation 3	Renal hypoplasia, Abnormal pinna morphology	OMIM:246560
Familial Hypofibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:98881
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Prominent nasal br...	ORPHA:85279
Kbg Syndrome	Bilateral conductive hearing impairment, Underdeveloped nasal alae, Long philtrum, Delayed skelet...	ORPHA:2332
Cooper-Jabs Syndrome	Anteriorly placed anus, Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone miner...	ORPHA:1488
Hadziselimovic Syndrome	Low-set ears, Renal hypoplasia, Posteriorly rotated ears, Failure to thrive	OMIM:612946
Carpenter Syndrome 2	Low-set ears, Carious teeth, Narrow naris, Supernumerary nipple, Cryptorchidism, Sensorineural he...	OMIM:614976
Myasthenic Syndrome, Congenital, 10	Proximal amyotrophy, Tongue atrophy, Distal amyotrophy, Weakness of facial musculature	OMIM:254300
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Orofaciodigital Syndrome Xvii	Low-set ears, Renal hypoplasia, Hearing impairment, Decreased body weight, Micropenis	OMIM:617926
Lateral Meningocele Syndrome	Low-set ears, Decreased muscle mass, Micrognathia, Cryptorchidism, Short neck, High palate, Bicon...	OMIM:130720
Facial Paresis, Hereditary Congenital, 3	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia...	OMIM:614744
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy, Flexion contracture, Broad nasal tip, Spasticity	ORPHA:500545
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Lowry-Maclean Syndrome	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, M...	ORPHA:2409
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Low-set, posteriorly rot...	ORPHA:1340
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
8Q22.1 Microdeletion Syndrome	Low-set ears, Depressed nasal ridge, Hypoplasia of the maxilla, Wide nasal bridge, Abnormality of...	ORPHA:178303
Congenital Factor Ii Deficiency	Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ...	ORPHA:325
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Left ventricular hypertroph...	ORPHA:251274
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Frontometaphyseal Dysplasia 2	Low-set ears, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural hearing impai...	OMIM:617137
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E...	OMIM:613885
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Depressed nasal bridge, Wide nasal bridge, Dental crowding, Downturned corners of m...	OMIM:615761
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Frequent fal...	ORPHA:240103
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:133705
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Low-set ears, Self-injurious behavior, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactiv...	OMIM:618718
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl...	OMIM:271150
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Gastroesophageal reflux, Camptodactyly of finger, Micrognathia, Narrow mouth, Abno...	ORPHA:1495
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Abnormality of the nose, Cerebral palsy, Tremor, Rigidity, Ptosis, Limb hypertonia, Hyperhidrosis...	ORPHA:70594
Pancreatic Agenesis-Holoprosencephaly Syndrome	Low-set ears, Neonatal insulin-dependent diabetes mellitus, Abnormal external nose morphology, Se...	ORPHA:556955
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypoplastic distal ...	OMIM:602196
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Lower cranial nerve dysfunction, Abnormal peripheral action potential amplitude, Abnormal cranial...	ORPHA:90117
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Congenita...	OMIM:615524
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Contractures of the large joints, Long philtrum, Low-set, posteriorly rotated ears...	ORPHA:521426
Autosomal Dominant Progressive External Ophthalmoplegia	Hearing impairment, Resting tremor, Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, A...	ORPHA:254892
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Linear Iga Dermatosis	Renal neoplasm, Epistaxis, Inflammation of the large intestine, Oral ulcer	ORPHA:46488
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy...	ORPHA:85447
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease	OMIM:617661
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Abnormal head movements, Torticollis, Ataxia	ORPHA:71518
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Depressed nasal bridge, Renal hypoplasia, Renal agenesis, Long philtrum, Anteverted...	ORPHA:171839
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Conductive hearing impairment, Hearing impairment, Congenital muscular...	OMIM:118100
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Op...	ORPHA:1507
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Macrodontia of permanent maxillary central incisor, Neuromuscular...	ORPHA:466722
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic acidur...	OMIM:212138
Keppen-Lubinsky Syndrome	Underdeveloped nasal alae, Narrow naris, Spastic tetraparesis, Decreased testicular size, Narrow ...	ORPHA:435628
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Cupped ear, Third degree atrioventricular block, Anteverted nares, Micr...	ORPHA:40366
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Ravine Syndrome	Ataxia, Apnea, Abnormal auditory evoked potentials, Spasticity	ORPHA:99852
Caribbean Parkinsonism	Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parki...	ORPHA:97355
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Pt...	OMIM:619862
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Narrow chest, Cleft upper lip, Overlapping toe, Gingival overgrowth, Joint hypermobility, Rib fus...	OMIM:213980
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Pectus carinatum, Irregular femoral epiphysis, Bell-shaped thorax, Genu valgum, Ske...	OMIM:255710
Renpenning Syndrome	High, narrow palate, Skeletal muscle atrophy, Macrodontia, Joint stiffness, Clinodactyly of the 5...	ORPHA:3242
Congenital Factor Xiii Deficiency	Gingival bleeding, Inflammation of the large intestine, Prolonged bleeding after dental extractio...	ORPHA:331
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Enlarge...	OMIM:157800
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment	ORPHA:3246
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Optic atrophy, Gastroesophageal reflux, Decreased motor nerve conduction velocity, ...	OMIM:615419
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Depressed nasal bridge, Type I diabetes mellitus, Semilobar holoprosencephaly, Cond...	OMIM:618500
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear	OMIM:615706
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	OMIM:141400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly...	OMIM:157640
Cleft Velum	Recurrent otitis media, Conductive hearing impairment	ORPHA:99772
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Developmental And Epileptic Encephalopathy 63	EEG with generalized epileptiform discharges, Conductive hearing impairment	OMIM:617976
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis morphology,...	ORPHA:90653
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Wide nasal bridge, Long philtrum, Episodic ataxia, Anteverted nares, Myoclonus, ...	OMIM:312170
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearin...	ORPHA:920
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment	ORPHA:231183
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Hearing impairment, Cerebral palsy, Hemiparesis, Tinnitus, Subarach...	ORPHA:53719
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus carinatum, Long philtrum, Abnormal metacarpal morphology, Osteoarthritis, Pectus excavatum...	ORPHA:166100
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Joint stiffness, Undulate ribs, Missing ribs, Bowing ...	ORPHA:1801
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Low-set ears, Wide nasal bridge, Short palpebral fissure, Gastroesophageal reflux, Hearing impair...	OMIM:613604
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion, Oste...	ORPHA:2776
Wilson-Turner Syndrome	Small hand, Broad nasal tip, Malar prominence, Micrognathia, Thick eyebrow, Cryptorchidism, Thin ...	ORPHA:3459
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal metaphysis morphology, Death in infancy, Abnormal rib morphology	ORPHA:1354
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Renal hypoplasia, Mi...	ORPHA:1307
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal palate morphology, Abnormal r...	ORPHA:1506
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Narrow naris, Epicanthus, High palate, Short metacarpal, Rectal prolapse, Short nose, Short palpe...	OMIM:617157
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Occipital encephalocele, Supernumerary nipple, Twelfth rib hypoplasia, Micrognathia...	ORPHA:397715
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Midface retrusion, Aplasia/Hypoplasia of the tongue, Anteverted nares,...	ORPHA:1790
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis...	ORPHA:403
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Craniofrontonasal Dysplasia	Abnormality of the dentition, Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Campto...	ORPHA:1520
Lymphatic Malformation 13	Unilateral deafness	OMIM:620244
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Motor axonal neuropathy, Sensorineural hearing impairment, Peripheral axonal neuropathy, Absent b...	OMIM:617519
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Joint contracture of the hand, Spasticity, Micrognathia, Narrow mouth, Cryptorchidi...	ORPHA:352490
Cardiocranial Syndrome, Pfeiffer Type	Low-set ears, Wide nasal bridge, High, narrow palate, Bifid uvula, Plantar flexion contracture, C...	ORPHA:2872
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct...	OMIM:129900
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the l...	ORPHA:464329
Aicardi Syndrome	Small hand, Block vertebrae, Cleft upper lip, Intestinal polyposis, Hiatus hernia, Missing ribs, ...	ORPHA:50
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Granulomatosis With Polyangiitis	Intestinal obstruction, Sensorineural hearing impairment, Hematuria, Prostatitis, Arrhythmia, Pur...	ORPHA:900
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au...	ORPHA:2549
Rubinstein-Taybi Syndrome 2	Carious teeth, Short 5th toe, Micrognathia, Epicanthus, High palate, Downslanted palpebral fissur...	OMIM:613684
Poliomyelitis	Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu...	ORPHA:2912
Lacrimoauriculodentodigital Syndrome	Low-set ears, Carious teeth, Xerostomia, Micrognathia, Cryptorchidism, Sensorineural hearing impa...	ORPHA:2363
Primary Pulmonary Hypoplasia	Low-set ears, Abnormal hemidiaphragm morphology, Ureteral stenosis, Patellar hypoplasia, Apnea, M...	ORPHA:2257
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Joint stiffness, Micrognathia, Vesicoureteral reflux, Congenital diaphragmatic he...	ORPHA:1166
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Congestive heart fail...	OMIM:617303
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the v...	ORPHA:93262
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Xerostomia, Hearing impairment, Ureterocele, Cryptorchidism, Sparse eyelashes, Abs...	OMIM:604292
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly, Thrombocytopenia	ORPHA:721
Cornelia De Lange Syndrome 5	Small hand, Hearing impairment, Micrognathia, Cryptorchidism, High palate, Short foot, Broad nasa...	OMIM:300882
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Ciliary Dyskinesia, Primary, 38	Conductive hearing impairment, Chronic otitis media	OMIM:618063
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Koolen-De Vries Syndrome	Cryptorchidism, Everted lower lip vermilion, Hypospadias, Hip dislocation, High, narrow palate, T...	ORPHA:96169
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Narrow mouth, Cryptorchidism, Aqueductal ...	ORPHA:138
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Recurrent otitis media, Conductive hearing impairment	OMIM:616910
6Q16 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Retrognathia, Bulbous nose, Anteverted nares, Micrognathia,...	ORPHA:171829
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating ...	ORPHA:404
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Renal hypoplasia, Microretrognathia, Hydranencephaly, Ureteral agenesis, Bulbous no...	OMIM:236500
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Endocardial Fibroelastosis	Abnormal helix morphology, Restrictive cardiomyopathy, Congestive heart failure, Low-set, posteri...	ORPHA:2022
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f...	OMIM:115197
Bleeding Disorder, Platelet-Type, 19	Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope...	OMIM:616176
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Hearing impairment, Long philtrum, Wid...	OMIM:249620
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Multicystic kidney dysplasia, Micrognathia, Chronic constipation, Bilateral cleft p...	OMIM:618829
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	ORPHA:2213
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Horseshoe kidney, Micrognathia, Sensorineural hearing impairme...	ORPHA:3320
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness	ORPHA:1010
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	High, narrow palate, Increased variability in muscle fiber diameter, Spasticity, Apnea, Type 1 mu...	OMIM:612949
Waldenström Macroglobulinemia	Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Gingival bleeding, Hearing i...	ORPHA:33226
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady...	OMIM:300911
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular a...	OMIM:300373
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Spasticity, Hearing impairment, Micrognathia, Cryptorchidism, Epicanthus, Blepharop...	OMIM:613792
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Short philtrum, Mandibular prognathia, Macrotia	ORPHA:93945
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Craniosynostosis And Dental Anomalies	Depressed nasal bridge, Narrow palate, Hypoplasia of the maxilla, Conductive hearing impairment, ...	OMIM:614188
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment	OMIM:132450
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Thin ribs, Congenital contracture, Death in infancy, ...	OMIM:615368
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Tremor, Arrhythmia, Constipation,...	ORPHA:99745
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Chorea, Apnea, Myoclonus, Ptosis, Optic disc pall...	OMIM:617235
Roberts-Sc Phocomelia Syndrome	Low-set ears, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Cryptorchidism, Absent radi...	OMIM:268300
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Skeletal muscle atrophy, Fasciculations, Decreased nerve conduction velocity, Rigidit...	OMIM:183050
Wildervanck Syndrome	Abnormality of the outer ear, Preauricular skin tag, Hearing impairment, Fused cervical vertebrae	OMIM:314600
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ...	ORPHA:101150
Meacham Syndrome	Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, ...	OMIM:608978
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Broad nasal tip, Horizontal eyebrow, Diastema, Decreased response to g...	OMIM:609757
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor...	OMIM:609166
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Block vertebrae, Bell-shaped thorax, Missing ribs, Rib fusion, Ectopic anus, Verte...	OMIM:613686
Otofaciocervical Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Abnormal antihelix morphol...	ORPHA:2792
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Hearing impairment, Retrognathia, Spinal canal stenosis, Horse...	ORPHA:1724
Cleft Palate, Deafness, And Oligodontia	Bilateral conductive hearing impairment	OMIM:216300
Mogs-Cdg	Optic atrophy, Short palpebral fissure, Retrognathia, Respiratory distress, Hepatosplenomegaly, A...	ORPHA:79330
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism...	OMIM:617225
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flexion contractu...	OMIM:618469
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, General...	ORPHA:52368
Acrocraniofacial Dysostosis	Choanal atresia, Short distal phalanx of finger, Conductive hearing impairment, Short 1st metacar...	ORPHA:949
Usher Syndrome Type 1	Ataxia, Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment	ORPHA:231169
Birk-Landau-Perez Syndrome	Optic atrophy, Renal hypoplasia, Progressive sensorineural hearing impairment, Hyperechogenic kid...	OMIM:617595
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Supravalv...	ORPHA:439232
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Vesicour...	ORPHA:1475
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Renal hypoplasia, Cupped ear, Aggressive behavior, Motor stereotypy, Imp...	OMIM:618914
Bleeding Disorder, Platelet-Type, 8	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau...	OMIM:609821
Benign Schwannoma	Nasal polyposis, Vertigo, Hearing abnormality, Vestibular schwannoma, Intestinal polyposis, Abnor...	ORPHA:252164
Intellectual Disability, Birk-Barel Type	High, narrow palate, Highly arched eyebrow, Tongue fasciculations, Broad nasal tip, Foot joint co...	ORPHA:166108
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Thin ribs, Death in infancy, Myopathy, Neonatal death...	OMIM:300219
Jeune Syndrome	Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho...	ORPHA:474
Folinic Acid-Responsive Seizures	Optic atrophy, Respiratory distress, Chorea, Apnea, Sensorineural hearing impairment, Hypertonia,...	ORPHA:79097
Spinocerebellar Ataxia 17	Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Apraxia, Ataxia, ...	OMIM:607136
Fetal Akinesia Deformation Sequence 2	Low-set ears, Wide nasal bridge, Downslanted palpebral fissures, Micrognathia, Tented upper lip v...	OMIM:618388
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Bradycardia, Pericardial effusion	OMIM:614702
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath...	ORPHA:989
Shprintzen-Goldberg Syndrome	Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Gastroesophageal reflux, Conductive...	ORPHA:2462
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi...	OMIM:128230
Stormorken Syndrome	Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Prominent nose, Myopa...	OMIM:185070
Factor V And Factor Viii, Combined Deficiency Of, 2	Epistaxis, Persistent bleeding after trauma, Menorrhagia	OMIM:613625
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Atresia of the external auditory canal, Downslanted palpebral fissures, Low-set, posteriorly rota...	ORPHA:1770
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s...	OMIM:606842
Keppen-Lubinsky Syndrome	Underdeveloped nasal alae, Narrow naris, Spastic tetraparesis, Narrow nasal bridge, Gingival over...	OMIM:614098
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Duane-Radial Ray Syndrome	Sensorineural hearing impairment, Small thenar eminence, Slit-like opening of the exterior audito...	OMIM:607323
Chromosome 1P35 Deletion Syndrome	Wide nasal bridge, Hearing impairment, Congenital hypothyroidism, Anterior creases of earlobe, Na...	OMIM:617930
Fragile X Tremor/Ataxia Syndrome	Dysdiadochokinesis, Resting tremor, Hearing impairment, Postural tremor, Gait ataxia, Action trem...	OMIM:300623
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Urinary incontin...	OMIM:213600
Coffin-Siris Syndrome 3	Depressed nasal bridge, Hearing impairment, Long philtrum, Umbilical hernia, Delayed skeletal mat...	OMIM:614608
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Ramon Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:3019
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Respiratory distress, Tremor, Rigidity, Parkinsonism with favorable resp...	ORPHA:240085
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Lethargy,...	ORPHA:71277
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Low-set ears, Wide nasal bridge, Underdeveloped nasal alae, Downslanted palpebral fissures, Steno...	ORPHA:1516
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Cleft lip, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathi...	ORPHA:398156
Intellectual Developmental Disorder, Autosomal Dominant 65	Low-set ears, Thick upper lip vermilion, Micrognathia, Narrow palpebral fissure, Ataxia, Short fo...	OMIM:619320
Severe Congenital Nemaline Myopathy	Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,...	ORPHA:171430
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis	OMIM:617270
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar...	OMIM:166300
Schwartz-Jampel Syndrome	Pursed lips, Abnormality of the ureter, Micrognathia, Narrow mouth, Myopathy, Hip contracture, Ar...	ORPHA:800
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Spastic Paraplegia 80, Autosomal Dominant	Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Bradykinesia, Urinary urge...	OMIM:618418
Leber Optic Atrophy And Dystonia	Optic atrophy, Spasticity, Skeletal muscle atrophy, Upper motor neuron dysfunction, Bradykinesia,...	OMIM:500001
Smith-Magenis Syndrome	Abnormality of the ureter, Micrognathia, Open mouth, Delayed eruption of primary teeth, Renal hyp...	ORPHA:819
Neu-Laxova Syndrome	Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ...	ORPHA:2671
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea, Vomiting, Wide nose, Sensorineural hearing impairment	ORPHA:137754
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge	OMIM:618302
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Vomiting, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Apnea, Left ventri...	OMIM:618228
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Carpenter Syndrome 1	Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss...	OMIM:201000
Heme Oxygenase 1 Deficiency	Epistaxis, Nephritis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hematuria, Proteinur...	OMIM:614034
Machado-Joseph Disease	Spasticity, Distal amyotrophy, Facial-lingual fasciculations, Urinary bladder sphincter dysfuncti...	OMIM:109150
Trisomy 20P	Incoordination, Abnormality of the ureter, Micrognathia, Abnormal antihelix morphology, Cryptorch...	ORPHA:261318
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Long philtrum, Downslanted palpebral fissures, Thick nasal alae, Micrognathia, Mala...	ORPHA:357175
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo...	ORPHA:3104
Bresek Syndrome	Low-set ears, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Vesicoureteral ref...	ORPHA:85284
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising susceptibility, Vertigo, Abn...	ORPHA:324636
Adamantinoma	Hypercalcemia	ORPHA:55881
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari...	OMIM:600501
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hearing impairment, Thoracic hemivertebrae, Micrognathia, Short neck, Cervical hemivertebrae, Hyp...	ORPHA:508498
Chromosome 15Q26-Qter Deletion Syndrome	Low-set ears, Wide nasal bridge, Micrognathia, Cryptorchidism, Blepharophimosis, Micropenis, Hypo...	OMIM:612626
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis mo...	ORPHA:93351
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Developmental And Epileptic Encephalopathy 61	Optic atrophy, Spasticity, Apnea, Open mouth, Thick vermilion border, High palate	OMIM:617933
Spinocerebellar Ataxia Type 13	Optic atrophy, Hearing impairment, Limb ataxia, Myoclonus, Gait ataxia, Titubation, Clumsiness, T...	ORPHA:98768
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Walker-Warburg Syndrome	Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ...	ORPHA:899
Primary Release Disorder Of Platelets	Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis	OMIM:176630
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Depressed nasal ridge, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Renal...	ORPHA:1046
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Hearing impairment, Elbo...	ORPHA:90650
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, Apnea, Ptosis, High palate, Periodic paralysis	OMIM:614198
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Thick n...	OMIM:615162
Dominant Beta-Thalassemia	Abnormality of the dentition, Hypoplasia of the musculature, Genu valgum, Bowing of the long bone...	ORPHA:231226
Fetal Minoxidil Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cryptorchidism	ORPHA:1918
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Facial diplegia, Limb musc...	OMIM:218000
Joubert Syndrome 1	Low-set ears, Nephropathy, Highly arched eyebrow, Optic disc coloboma, Hemifacial spasm, Episodic...	OMIM:213300
Treacher Collins Syndrome 1	Choanal atresia, Sparse lower eyelashes, Conductive hearing impairment, Atresia of the external a...	OMIM:154500
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Micrognathia, Open mouth, Sensorineural hearing impairment, Epicanthus, Everted low...	OMIM:618342
Evans Syndrome	Epistaxis, Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Lethargy, Syncope, Ne...	ORPHA:1959
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Retrognathia, Underdeveloped nasal alae, Large fleshy ears, Micrognathia, Congenita...	OMIM:263210
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Micropenis, Th...	OMIM:113000
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Cryptorchidism, High palate, Macrotia, Cholelithiasis, Hypoplasia of the maxilla, D...	OMIM:300534
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal clavicle morphology, Abnormal epiphysis morphology, Elbow dis...	ORPHA:628
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Constipation, Parkinsonism with favorable response to dopaminergic medi...	OMIM:616710
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Low-set ears, Hypoplasia of the maxilla, Skeletal muscle atrophy, Hearing impairment, Long philtr...	ORPHA:481152
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Chung-Jansen Syndrome	Long philtrum, Large earlobe, Anteverted nares, Micrognathia, Thick eyebrow, Cryptorchidism, Upsl...	OMIM:617991
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy	OMIM:617862
Trisomy 17P	Low-set ears, Aortic valve stenosis, Hearing impairment, Micrognathia, Narrow mouth, High palate,...	ORPHA:261290
Wrinkly Skin Syndrome	Osteopenia, Hypoplasia of the musculature, Carious teeth, Congenital hip dislocation, Delayed eru...	OMIM:278250
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia	OMIM:615541
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Bilateral conductive hearing impairment, Atresia of the external auditory canal	ORPHA:2010
Developmental Delay With Variable Neurologic And Brain Abnormalities	Spasticity, Sparse lateral eyebrow, Widely spaced teeth, Anteverted nares, Micrognathia, Upslante...	OMIM:619694
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	OMIM:300946
Birk-Aharoni Syndrome	Duplicated collecting system, Hearing impairment, Long nasal bridge, Chorea, Micrognathia, Thick ...	OMIM:620071
Marshall-Smith Syndrome	Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin...	OMIM:602535
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Apnea, Sensorineural hearing...	OMIM:616896
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Mixed hearing impairment, Congenital sensorineural hearing impairment	ORPHA:2698
Distal Duplication 6P	Low-set ears, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormality of the urinary sy...	ORPHA:1745
Distal Monosomy 7Q36	Optic atrophy, Bulbous nose, Wide mouth, Micrognathia, Cryptorchidism, Upslanted palpebral fissur...	ORPHA:1636
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Cervical kyphosis, Midface retrusion, Elbow di...	OMIM:108721
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, Ataxia, Dystonia, Motor stereotypy	OMIM:619150
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Absent brainstem audito...	ORPHA:1215
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment	OMIM:618497
Immune Dysregulation, Autoimmunity, And Autoinflammation	Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Petechiae, Ecchymosis, Anemia, Inguinal l...	OMIM:620514
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal form of the vertebral bodies, Abn...	ORPHA:2916
Pontine Tegmental Cap Dysplasia	Rib fusion, Facial palsy, Ankle clonus	OMIM:614688
Alopecia Antibody Deficiency	Conductive hearing impairment	ORPHA:1006
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
17Q24.2 Microdeletion Syndrome	Wide nasal bridge, Tooth malposition, Otosclerosis, Upper limb undergrowth, Recurrent otitis medi...	ORPHA:529962
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Sciss...	ORPHA:521406
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Large fleshy ears, Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Overfol...	OMIM:619092
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:619473
Variant Abeta2M Amyloidosis	Chronic kidney disease, Pathologic fracture, Abnormal skeletal muscle morphology, Wrist pain, Abn...	ORPHA:314652
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ...	OMIM:619279
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Apnea, Micrognathia, Bradycardia, Death in infancy, Rigidity, Babinski sign, Limb ...	OMIM:614498
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Vomiting, Apnea, Myoclonus, Death in childhood, Lethargy, Ptosis, Ataxia	OMIM:618225
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Hypomimic face, Bradyk...	OMIM:300423
Even-Plus Syndrome	Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections, Microtia	OMIM:616854
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Rigidity, Parkinsonism, Bradykinesia, Urinary urgency	OMIM:605909
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Van Maldergem Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Micrognathia, Cryptorchidism, Irregul...	OMIM:615546
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the dentition, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormal...	ORPHA:276422
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Pectus carinatum, Osteopenia, Ulnar deviation of finger, Elbow flexion co...	OMIM:121050
Van Maldergem Syndrome 1	Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ...	OMIM:601390
Pontocerebellar Hypoplasia Type 4	Micrognathia, Myoclonus, Central apnea, Hypertonia, Arthrogryposis multiplex congenita	ORPHA:166063
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micro...	OMIM:309520
Pycnodysostosis	Carious teeth, Delayed cranial suture closure, Hepatosplenomegaly, Micrognathia, Mild conductive ...	ORPHA:763
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, Recurrent otitis m...	OMIM:618494
Bleeding Disorder, Platelet-Type, 20	Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia	OMIM:613554
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Duodenal stenosis, Camptodactyly of finger, Micrognathia, Abnormality of the upper u...	ORPHA:2547
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Anteverted nares, Apnea, Renal cyst, Multiple renal cysts	OMIM:614883
Kufor-Rakeb Syndrome	Anosmia, Spasticity, Spastic paraplegia, Leg muscle stiffness, Myoclonus, Tremor, Rigidity, Babin...	OMIM:606693
Cutis Laxa-Marfanoid Syndrome	Limitation of joint mobility, Congenital diaphragmatic hernia, Arachnodactyly, Flexion contractur...	ORPHA:171719
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Anteverted nares, Hearing a...	ORPHA:2412
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Short neck, Meningocele, Facial palsy, Fused cervica...	ORPHA:3456
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Downturned corners of mouth, Abnormal epiphysis morph...	ORPHA:93267
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Coffin-Siris Syndrome 6	Low-set ears, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Conductive hearing im...	OMIM:617808
Alg9-Cdg	Bifid uvula, Hypoplasia of the musculature, Long philtrum, Flared metaphysis, Delayed cranial sut...	ORPHA:79328
Potocki-Shaffer Syndrome	Broad nasal tip, Downturned corners of mouth, Underdeveloped nasal alae, Depressed nasal tip, Pro...	ORPHA:52022
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Rauch-Steindl Syndrome	Failure to thrive, Bilateral renal hypoplasia, Hyperechogenic kidneys, Prominent crus of helix, P...	OMIM:619695
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anosmia, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Hyposmia, Hypogo...	ORPHA:2250
Glanzmann Thrombasthenia 2	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:619267
Bleeding Disorder, Platelet-Type, 11	Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Prolonged bleeding time,...	OMIM:614201
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Sensorineural hearing impairment...	ORPHA:444077
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Long philtrum, Downslanted palpebral fissures, Recurrent otitis media, Antever...	OMIM:602562
Saethre-Chotzen Syndrome	Low-set ears, Hearing impairment, Prominent crus of helix, Open bite, Delayed cranial suture clos...	ORPHA:794
Moebius Syndrome	Congenital fibrosis of extraocular muscles, Micrognathia, Lower limb undergrowth, Epicanthus, Abn...	OMIM:157900
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Distal Deletion 10P	Wide nasal bridge, Hearing impairment, Downslanted palpebral fissures, Low-set, posteriorly rotat...	ORPHA:1580
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Protruding ear, Renal hypoplasia, Hypoplasia of penis	ORPHA:2256
Pallister-Hall Syndrome	Atresia of the external auditory canal, Cryptorchidism, Ectopic kidney, Patent ductus arteriosus,...	OMIM:146510
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration, Head tremor, Impaired vibration sensati...	ORPHA:95433
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy...	OMIM:613670
Loeys-Dietz Syndrome 1	Bifid uvula, Hypoplasia of the musculature, Pectus carinatum, Abnormal sternum morphology, Joint ...	OMIM:609192
Marden-Walker Syndrome	Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ...	ORPHA:2461
Skraban-Deardorff Syndrome	Depressed nasal bridge, Sparse lateral eyebrow, Hyperplasia of the maxilla, Widely spaced teeth, ...	OMIM:617616
Isolated Atp Synthase Deficiency	Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aciduria, Sensorineural hearing impairment, A...	ORPHA:254913
Bleeding Disorder, Platelet-Type, 18	Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prolonged bleedin...	OMIM:615888
Cerebellar Ataxia, Cayman Type	Skeletal muscle atrophy, Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Hypomimic face, Inten...	OMIM:601238
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Limb muscle weakness, Myopathy, Ptosis, Type 2 muscle fiber atrophy, Apneic...	OMIM:605809
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Hearing impairment, Glomerulo...	ORPHA:2260
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Congenital diaphragmatic ...	ORPHA:1120
Benign Familial Neonatal-Infantile Seizures	Episodic ataxia, Vertigo, Apnea, Nausea, Slurred speech	ORPHA:140927
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary...	ORPHA:231625
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Preauricular skin tag, Camptodactyly of fing...	ORPHA:391474
Bohring-Opitz Syndrome	Micrognathia, Bilateral wrist flexion contracture, Cholelithiasis, Cleft lip, Annular pancreas, U...	ORPHA:97297
Seckel Syndrome 5	Low-set ears, Retrognathia, Selective tooth agenesis, Downslanted palpebral fissures, 11 pairs of...	OMIM:613823
Chromosome 16Q22 Deletion Syndrome	Low-set ears, Depressed nasal bridge, Wide nasal bridge, Hypospadias, Short palpebral fissure, Hi...	OMIM:614541
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Hearing impairment, Abnormality of the temporoma...	ORPHA:73
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Xp22.13P22.2 Duplication Syndrome	Flared nostrils, Recurrent upper respiratory tract infections, Broad nasal tip, Hearing impairmen...	ORPHA:284180
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia, Alaninuria, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Brain Malformations With Or Without Urinary Tract Defects	Low-set ears, Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis, Overfol...	OMIM:613735
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Spasticity, Hearing impairment, Micrognathia, Protruding tongue, Par...	ORPHA:98889
Dystonia 16	Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia, Dysphagia	ORPHA:210571
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Reduced muscle fiber alpha dystroglycan, Multiple joint contrac...	ORPHA:370968
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Chorea, Death in childhood, Lethargy, Ataxia, Bradykinesia	OMIM:618683
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Ascites, Bradycardia, Abnormal renal corticomedullary differentiat...	OMIM:617397
Intellectual Developmental Disorder, Autosomal Dominant 7	Small for gestational age, Failure to thrive in infancy, Inappropriate laughter, Stereotypical ha...	OMIM:614104
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Hearing impairment, Stomach cancer, Micrognathia, Epicanthus, Holop...	ORPHA:1052
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Christianson Syndrome	Inappropriate laughter, Gait ataxia, Cachexia, Dysphagia, Truncal ataxia, Dystonia, Motor stereot...	ORPHA:85278
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased...	OMIM:259440
Trisomy 8Q	Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Myelomeningocele, ...	ORPHA:1752
Ogden Syndrome	Low-set ears, Flared nostrils, Palpebral thickening, Diarrhea, Everted upper lip vermilion, Recur...	OMIM:300855
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomega...	OMIM:269920
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Micrognathia, Cryptorchidism, Prominent nasal tip, Hypospadias, Short nose, I...	ORPHA:439822
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Open mouth, Sensorineural hearing impairment...	ORPHA:192
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Metaphyseal cupping of metacarpals, Skeletal muscle atrophy, Cone-shaped capital femor...	OMIM:300232
Acrocallosal Syndrome	Triphalangeal thumb, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Postaxial han...	ORPHA:36
Congenital Diaphragmatic Hernia	Intestinal malrotation, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of...	ORPHA:2140
Chops Syndrome	High, narrow palate, Hearing impairment, Downturned corners of mouth, Long philtrum, Horseshoe ki...	OMIM:616368
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Midface retr...	ORPHA:782
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Nar...	OMIM:228520
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Adrenal hyperplasia, Increased urinary potassium, Decreased circulating ...	ORPHA:231580
6Q25 Microdeletion Syndrome	Wide nasal bridge, Long philtrum, Camptodactyly of finger, Low-set, posteriorly rotated ears, Dow...	ORPHA:251056
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Pancytopenia, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Epica...	ORPHA:85321
Frontoocular Syndrome	Low-set ears, Short palpebral fissure, Prominent nasal bridge, Narrow mouth, Micrognathia, Upslan...	OMIM:605321
Spinocerebellar Ataxia 2	Spasticity, Distal amyotrophy, Urinary bladder sphincter dysfunction, Fasciculations, Postural tr...	OMIM:183090
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth...	OMIM:300978
Chromosome 6Q11-Q14 Deletion Syndrome	Low-set ears, Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Prominent nasal bridge, M...	OMIM:613544
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Long philtrum, Apnea, Myoclonus, Upslanted palpebral fissure, Thin upper lip vermilion, Hypertonia	OMIM:617290
Achalasia-Microcephaly Syndrome	Prominent nose, Micrognathia, Epicanthus, Achalasia, Mandibular prognathia, Macrotia	ORPHA:929
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Death in infancy	OMIM:614876
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Congenital diaphr...	OMIM:614437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g...	OMIM:606612
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Rhizomelia, Gastroesophageal reflux, Hearing impairment, Congestive heart...	OMIM:616482
Otosclerosis 10	Otosclerosis	OMIM:615589
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Micrognathia, Epicanthus, Ptosis...	ORPHA:1913
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Incomplete partition of the cochlea type II, Renal hypoplasia, Vesicoureteral reflux, Sensorineur...	OMIM:617660
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Truncal ataxia, Motor stereotypy, Inflexible adherence to routines	OMIM:608636
Rheumatic Fever	Epistaxis, Fasciculations, Chorea, Sinusitis, Arrhythmia, Constipation, Aplasia/Hypoplasia of the...	ORPHA:3099
Presynaptic Congenital Myasthenic Syndromes	Low-set ears, Gastroesophageal reflux, Distal amyotrophy, Arthrogryposis multiplex congenita, Mic...	ORPHA:98914
Congenital Myasthenic Syndrome	Low-set ears, Gastroesophageal reflux, Distal amyotrophy, Arthrogryposis multiplex congenita, Mic...	ORPHA:590
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Ptosis, Type 2 muscle fiber atrophy, Dysphagia, Apneic episodes precipitate...	OMIM:254210
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Congestive heart failure, Abnormal heart morphology, Heparan sulfate...	ORPHA:505248
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly...	OMIM:102700
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradykinesia	OMIM:619052
Aicardi Syndrome	Block vertebrae, Cleft upper lip, Hiatus hernia, Missing ribs, Supernumerary ribs, Rib fusion, Bi...	OMIM:304050
Developmental And Epileptic Encephalopathy 64	Depressed nasal bridge, Sparse eyebrow, Broad nasal tip, Highly arched eyebrow, Long philtrum, Th...	OMIM:618004
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Broad nasal tip, Conductive hearing impairment, Atresia of the external auditor...	OMIM:239800
Beta-Thalassemia Major	Abnormality of the dentition, Hypoplasia of the musculature, Genu valgum, Bowing of the long bone...	ORPHA:231214
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Type II diabetes mellitus, Anal atresia, Abnormal sacrum morphology, Scol...	ORPHA:1436
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Hypomimic face, Bradykinesia, Dysphagia	ORPHA:71517
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Low-set ears, Hearing impairment, Prominent ear helix, Micrognathia, Narrow mouth, Cryptorchidism...	OMIM:618659
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Severe Neonatal-Onset Encephalopathy With Microcephaly	Involuntary movements, Gastroesophageal reflux, Spasticity, Apnea, High palate	ORPHA:209370
Emanuel Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Congenital diaphragmatic ...	OMIM:609029
Combined Oxidative Phosphorylation Deficiency 57	Central hypoventilation, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopat...	OMIM:620167
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate, Scoliosis,...	OMIM:300676
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage	ORPHA:98880
Polycythemia Vera	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Po...	ORPHA:729
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi...	ORPHA:2662
Dystonia 12	Tremor, Parkinsonism, Torticollis, Hypomimic face, Bradykinesia, Dysphagia	OMIM:128235
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Relapsing Fever	Epistaxis, Acute kidney injury, Vomiting, Diarrhea, Abnormality of the urinary system, Hypotensio...	ORPHA:91547
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Highly arched eyebrow, Short palpebral fissure, Underdeveloped nasal alae, Camptodactyly of finge...	ORPHA:2083
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep...	ORPHA:99828
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Orofaciodigital Syndrome Ii	Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment, Depre...	OMIM:252100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, HbH hemoglobin, Short toe, Retrognathia, L...	ORPHA:98791
N-Acetylaspartate Deficiency	Truncal ataxia, Motor stereotypy, Self-mutilation, Decreased body weight	OMIM:614063
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia...	OMIM:618022
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Hip contracture, Short neck, Tarsal synostos...	OMIM:178110
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy	OMIM:619470
Abruzzo-Erickson Syndrome	Conductive hearing impairment, Macrotia, Sensorineural hearing impairment	ORPHA:921
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami, ...	OMIM:141300
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Decreased muscle mass, Hypermobility of distal interphalangeal joints...	OMIM:615065
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment	ORPHA:1997
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Trisomy 18P	Wide nasal bridge, High, narrow palate, Highly arched eyebrow, Underdeveloped nasal alae, Bilater...	ORPHA:1715
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Epistaxis, Abnormal platelet count, Bruising susceptibility, Ecchymosis	OMIM:614009
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Lissencephaly, X-Linked, 2	Low-set ears, Wide nasal bridge, Spasticity, Diarrhea, Long philtrum, Decreased testicular size, ...	OMIM:300215
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Failure to thrive, Gait ataxia, Motor stereotypy, Dysphagi...	DECIPHER:45
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypog...	OMIM:235200
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Delayed skeletal maturation, Widely spaced teeth, Herni...	OMIM:601216
Radio-Tartaglia Syndrome	Low-set ears, Hearing impairment, Micrognathia, Epicanthus, Prominent nasal tip, Narrow palpebral...	OMIM:619312
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydac...	ORPHA:380
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Skeletal muscle atrophy, Flexion contracture, Tongue atrophy, Hip dislocation	OMIM:614678
Hyperprolinemia, Type I	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Motor...	OMIM:239500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Micrognathia, Narro...	ORPHA:83617
Spondylocarpotarsal Synostosis Syndrome	Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, Sensorineural hearing i...	OMIM:272460
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Decreased skull ossifica...	OMIM:601163
Juvenile Nasopharyngeal Angiofibroma	Epistaxis, Juvenile colonic polyposis, Nasal congestion	ORPHA:289596
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Long philtrum, Delayed skeletal maturation, Short neck, Hyposeg...	OMIM:614800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Apnea, 3-Methylglutaconic aciduria, Neonatal death	OMIM:615228
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Low-set ears, Optic atrophy, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:618672
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous sy...	ORPHA:329284
1P36 Deletion Syndrome	Long philtrum, Camptodactyly of finger, Delayed cranial suture closure, 11 pairs of ribs, Joint s...	ORPHA:1606
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Renal insuffic...	OMIM:617159
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Foot dorsiflexor weakness, Tongue atrophy, Upper limb muscle weakness, Lower limb muscle weakness	OMIM:616155
Platelet Signal Processing Defect	Epistaxis, Abnormal bleeding, Thrombocytopenia	OMIM:173590
Intellectual Disability-Strabismus Syndrome	Low-set ears, Joint contracture of the hand, Spasticity, Hearing impairment, Recurrent otitis med...	ORPHA:363528
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow chest, Long philtrum, Stiff neck, Broad ri...	OMIM:617022
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Hypoplasia of the maxilla, Abnormality of canine, Abnormality of...	ORPHA:363417
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Natal tooth, Downslanted palpebral fissures...	OMIM:616901
Polyvalvular Heart Disease Syndrome	Low-set ears, Aortic valve stenosis, Dental crowding, Tricuspid regurgitation, Prominent nose, Mi...	ORPHA:228410
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Hypomimic face, Bradykinesia	OMIM:618824
Orofaciodigital Syndrome Xix	Low-set ears, Carious teeth, Cleft soft palate, Narrow mouth, High palate, Accessory oral frenulu...	OMIM:620107
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Vomiting, Apnea, Babinski sign, Lethargy, Ptosis, Episodic vomiting, Ataxia, Dysph...	OMIM:618226
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Hypogonadism, Splenomegaly, Anemia, C...	OMIM:613313
Tetraploidy	Hypoplasia of the ear cartilage, Aplasia/Hypoplasia of the thymus, Micrognathia, Renal hypoplasia...	ORPHA:3305
Stuve-Wiedemann Syndrome 1	Low-set ears, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Dysphagia, ...	OMIM:601559
Huntington Disease	Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Myoclonus, Abnormality of the sense of ...	ORPHA:399
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata...	ORPHA:382
Joubert Syndrome 2	Low-set ears, Depressed nasal bridge, Nephronophthisis, Optic disc coloboma, Episodic tachypnea, ...	OMIM:608091
22Q11.2 Duplication Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia of the thymus, Hearing impairment, Downslanted palpebra...	ORPHA:1727
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, Tachypnea, High palate, Peg...	ORPHA:2751
15Q24 Microdeletion Syndrome	Wide nasal base, Abnormality of the outer ear, Hearing impairment, Narrow mouth, Congenital diaph...	ORPHA:94065
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia, Vertebral segmentation defect	ORPHA:3004
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Crisponi/Cold-Induced Sweating Syndrome 1	Low-set ears, Depressed nasal bridge, Carious teeth, Dyspnea, Retrognathia, Long philtrum, Elbow ...	OMIM:272430
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Conductive hear...	OMIM:123500
Isolated Congenital Hypoglossia/Aglossia	Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Microglossia	ORPHA:141152
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Low-set ears, Poor fine motor coordination, Dental malocclusion, Broad columella, Underdeveloped ...	ORPHA:436245
Autosomal Dominant Spastic Ataxia Type 1	Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Spastic ataxia, Jerky head ...	ORPHA:251282
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachydactyly, Abn...	ORPHA:2643
Recombinant Chromosome 8 Syndrome	Low-set ears, Depressed nasal bridge, Abnormality of the dentition, Joint contracture of the hand...	OMIM:179613
Postaxial Acrofacial Dysostosis	Cupped ear, Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the ...	ORPHA:246
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity, Urinary urgency	OMIM:618878
Non-Functioning Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Paroxysmal vertigo, Paraganglioma of he...	ORPHA:94080
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology, Sensorineural hearing impairment	ORPHA:3225
Acrodysostosis	Hearing impairment, Open bite, Open mouth, Cryptorchidism, Genu varum, Short nose, Depressed nasa...	ORPHA:950
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Micrognathia, Type II diabetes mellitus, Cryptorc...	ORPHA:904
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Decreased testicular size, Anal atresia, Mandibular prognathia, Macrotia	ORPHA:93950
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Babinski sign, Bradykinesia, Lacticaciduria	OMIM:619063
Multiple System Atrophy	Orthostatic syncope, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia,...	ORPHA:102
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy, Slurred speech, Abnor...	ORPHA:98755
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o...	OMIM:305400
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Pancytopenia, Hematuria, Neutrophilia, Tachycardia, Purpura, Diffuse...	ORPHA:99827
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Myoclonus, Hypertonia	OMIM:610992
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Anal stenosis, Hearing impai...	OMIM:601499
Infantile Dystonia-Parkinsonism	Gastroesophageal reflux, Cerebral palsy, Chorea, Parkinsonism, Constipation, Limb hypertonia, Abn...	ORPHA:238455
Wolf-Hirschhorn Syndrome	Downturned corners of mouth, Cleft upper lip, Abnormal lip morphology, Short thumb, Preaxial hand...	ORPHA:280
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Prominent nasal bridge, Micrognathia, Upslanted palpebral fissure, Epic...	OMIM:619873
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis	OMIM:236110
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Hepatosplenomegaly, Micrognathia, Patellar aplasia, Carpal bone hypoplasia, Pa...	OMIM:274000
Cleft Lip/Palate	Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Velopharyngeal ins...	ORPHA:199306
Kbg Syndrome	Radial deviation of finger, Long philtrum, Cervical ribs, Macrodontia, Ulnar deviation of the 2nd...	OMIM:148050
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Fibrodysplasia Ossificans Progressiva	Conductive hearing impairment, Small cervical vertebral bodies, Widely spaced teeth, Ectopic ossi...	OMIM:135100
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Low-set ears, Gastroesophageal reflux, Horseshoe kidney, Thin eyebrow, Long eyelashes, Prominent ...	ORPHA:502434
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Limb ataxia, Decreased body weight, Attention deficit hyperactivity diso...	OMIM:617695
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response...	ORPHA:314632
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Decreased calvarial ossification, Brachydactyly, Craniosynostosis, ...	OMIM:618265
Acrodysostosis 1 With Or Without Hormone Resistance	Hearing impairment, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasin...	OMIM:101800
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Lumbar hyperlordos...	ORPHA:313892
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro...	OMIM:137550
Codas Syndrome	Depressed nasal bridge, Crumpled ear, Hydroureter, Delayed eruption of teeth, Abnormal dental ena...	ORPHA:1458
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Narrow mouth, Cryptorchidism, Short neck, Everted lo...	OMIM:608156
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Tinnitus, Renal cortical adenoma, Nausea, Ovarian n...	ORPHA:231632
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Vesicoureteral reflux, Obesity, Sensorineural hearing impairment	ORPHA:464288
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic paraplegia, Gastroesophageal reflux, Dental crowding, Gait ataxia, Dysmetria, Central apn...	OMIM:615031
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Recurrent otitis media, Mic...	ORPHA:254531
Genitopalatocardiac Syndrome	Low-set ears, Wide nasal bridge, Multicystic kidney dysplasia, Kyphosis, Downturned corners of mo...	ORPHA:2075
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Hip dislocation, Congenital diaphragmatic hernia	OMIM:614100
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Decreased response ...	OMIM:609053
Multiple System Atrophy, Cerebellar Type	Orthostatic syncope, Neuromuscular dysphagia, Resting tremor, Autonomic bladder dysfunction, Post...	ORPHA:227510
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Elbow flexion contracture, Rigidity, Parkinsonism, Bradykinesia	ORPHA:306692
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Subdural hemorrhage, Micrognathia, Multiple joint contractures, Central ...	OMIM:618291
Lopes-Maciel-Rodan Syndrome	Small hand, Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia, ...	OMIM:617435
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Apnea, Death in infancy, Rigidity, Hypertonia	OMIM:613869
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment	OMIM:607634
Multiple System Atrophy, Parkinsonian Type	Orthostatic syncope, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia,...	ORPHA:98933
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Supernumerary ribs, Patellar subluxation, Osteoporosis, Abnormal number of i...	ORPHA:2958
Eec Syndrome	Carious teeth, Xerostomia, Sensorineural hearing impairment, Renal hypoplasia/aplasia, Aplasia/Hy...	ORPHA:1896
Van Bogaert-Hozay Syndrome	Depressed nasal bridge, Tooth malposition, Micrognathia, Abnormal pinna morphology, Distal ulnar ...	OMIM:277150
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hearing impairment, Retrognathia, ...	OMIM:620157
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Dysphagia, Slurre...	OMIM:618317
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Genu valgum, Limb muscle weakness, Horizontal inferior border of scapula, M...	ORPHA:239
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Dystonia, Motor stereotypy	OMIM:617820
Temple Syndrome	Precocious puberty, Depressed nasal bridge, Bifid uvula, Small hand, Maturity-onset diabetes of t...	OMIM:616222
Spinocerebellar Ataxia 10	Dysdiadochokinesis, Incoordination, Decreased nerve conduction velocity, Limb fasciculations, Lim...	OMIM:603516
Ablepharon-Macrostomia Syndrome	Low-set ears, Microtia, first degree, Microtia, third degree, Hearing impairment, Hypoplasia of t...	OMIM:200110
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Hypophosphatasia, Infantile	Abnormality of the dentition, Nephrocalcinosis, Vomiting, Phosphoethanolaminuria, Micromelia, Apn...	OMIM:241500
Auriculocondylar Syndrome	Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Dif...	ORPHA:137888
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Low-set ears, Depressed nasal ridge, Wide nasal bridge, Underdeveloped nasal alae, Intestinal mal...	ORPHA:77300
Cebalid Syndrome	Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Midface retrusion, Hearing impairmen...	OMIM:618774
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Arrhythmia, Abnormality of the ki...	ORPHA:85443
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Joint stiffness, Congenital di...	ORPHA:1915
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Wiedemann-Steiner Syndrome	Low-set ears, Small hand, Recurrent otitis media, Contracture of the distal interphalangeal joint...	OMIM:605130
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary...	ORPHA:57777
Dworschak-Punetha Neurodevelopmental Syndrome	Large earlobe, Unilateral renal hypoplasia, Cupped ear, Vesicoureteral reflux	OMIM:619955
Axial Mesodermal Dysplasia Spectrum	Abnormal localization of kidney, Gastroesophageal reflux, Abnormality of the urinary system, Abno...	ORPHA:1834
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Zechi-Ceide Syndrome	Low-set ears, Abnormal helix morphology, Conductive hearing impairment, Abnormal earlobe morpholo...	ORPHA:217017
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Dysosteosclerosis	Natal tooth, Sclerosis of hand bone, Diaphyseal undertubulation, High palate, Short diaphyses, Os...	OMIM:224300
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Pill-rolling tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia...	OMIM:615528
White-Kernohan Syndrome	Low-set ears, Recurrent otitis media, Broad medial eyebrow, Epicanthus, Rectovaginal fistula, Sho...	OMIM:619426
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death ...	ORPHA:93946
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular...	ORPHA:225147
Neurodegeneration With Brain Iron Accumulation 6	Distal amyotrophy, Spastic paraparesis, Rigidity, Bradykinesia, Spastic tetraplegia	OMIM:615643
White Forelock With Malformations	Finger syndactyly, Abnormal palate morphology, Joint hypermobility, Deep philtrum, Sprengel anoma...	ORPHA:2475
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Downslanted palpebral fissures, Micrognathia, Apnea, Shallow orbits, Short nose	ORPHA:1129
Fraser Syndrome 1	Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal...	OMIM:219000
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Conductive hearing impairment,...	ORPHA:3082
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hermansky-Pudlak Syndrome 3	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ...	OMIM:614072
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Patellar hypoplasia, Hypogonadism, Micrognathia, Protruding ear, Convex nasal ridge, Flexion cont...	OMIM:251240
Autosomal Dominant Dopa-Responsive Dystonia	Hearing impairment, Postural tremor, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor f...	ORPHA:98808
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hypertroph...	OMIM:276700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Spasticity, Large fleshy ears, Micrognathia, Open mouth, Congenital diaphragmatic h...	OMIM:614080
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment	ORPHA:1861
Campomelic Dysplasia	Low-set ears, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical vertebrae, Hearing impair...	OMIM:114290
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Recurrent otitis m...	OMIM:301000
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Hemolytic anemia, Renal...	OMIM:603903
3M Syndrome	Thin ribs, Congenital hip dislocation, Rocker bottom foot, Delayed eruption of teeth, Long philtr...	ORPHA:2616
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Clark-Baraitser syndrome	Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, An...	OMIM:300602
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Low-set ears, Hypoplastic helices, Unilateral renal agenesis, Renal hypoplasia, Hearing impairmen...	OMIM:617641
Bleeding Disorder In Hemophilia A Carriers	Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ...	ORPHA:177926
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra...	ORPHA:1647
Edinburgh Malformation Syndrome	Low-set ears, Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narro...	ORPHA:1895
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Short palpebral fissure, Hearing impairment, Abnormality of the ureter...	ORPHA:3339
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Emanuel Syndrome	Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Micrognathia, Congen...	ORPHA:96170
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ...	OMIM:258850
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Abnormalit...	ORPHA:544254
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Hip dislocation, Microglossia, Occipital encephalocele, Micrognathia, Dea...	OMIM:241800
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Non-Distal Duplication 13Q	Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Micrognathia, Th...	ORPHA:1702
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Cupped ear, Retrognathia, Persistence of hemoglobin F, Downslanted palpebral fissur...	OMIM:617101
Recon Progeroid Syndrome	Skeletal muscle atrophy, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent ...	OMIM:620370
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Low-set ears, Pursed lips, Micrognathia, Narrow mouth, Epicanthus, Ataxia, High palate, Macrotia,...	ORPHA:562528
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Dental malocclusion, Delayed eruption of teeth, Lo...	OMIM:612921
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Bowing of the long bones, Abnormal rib morphology, Cr...	ORPHA:436
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, 3-Methylglutaconic aciduria, Sensorineural hearin...	ORPHA:17
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Bruising susceptibility, Incoordination, Abnormality of extrapyrami...	ORPHA:352723
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cuppe...	OMIM:614524
Acrootoocular Syndrome	Low-set ears, Wide nasal base, Atresia of the external auditory canal, Abnormal earlobe morpholog...	ORPHA:2980
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemi...	ORPHA:282166
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Micrognathia, High palate, Hypoplasia of the maxilla, Delayed skeletal maturation, ...	OMIM:170390
Charlie M Syndrome	Wide nasal bridge, Tooth agenesis, Micrognathia, Narrow mouth, Thin vermilion border, Short philt...	ORPHA:1406
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Vesicoureteral reflux, Cleft palate,...	OMIM:614261
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Baller-Gerold Syndrome	Finger aplasia, Abnormal localization of kidney, Aplasia/Hypoplasia of the radius, Conductive hea...	ORPHA:1225
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Micrognathia, Narrow mouth, Macrotia, Short nose, Gastroesophageal reflux, Do...	OMIM:620250
Pancreatic And Cerebellar Agenesis	Low-set ears, Optic nerve hypoplasia, Pancreatic hypoplasia, Apnea, Death in infancy, Convex nasa...	OMIM:609069
Sarcoidosis	Abnormal lymph node morphology, Abnormal nasal mucosa morphology, Tubulointerstitial nephritis, E...	ORPHA:797
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Camptodactyly of finger, Furro...	ORPHA:2928
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Motor stereotypy...	OMIM:618504
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Optic atrophy, Apnea, Myopathy	OMIM:618236
Andersen-Tawil Syndrome	Low-set ears, Small hand, Polymorphic and polytopic ventricular extrasystoles, Periodic hypokalem...	ORPHA:37553
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Sensorineural hearing impairment, Ataxia, Optic disc pallor, O...	OMIM:252010
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Sclerosis of...	ORPHA:3003
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Lymphangiectasia, Intestinal	Prominent floating ribs, Stillbirth, Intestinal lymphangiectasia	OMIM:152800
Agnathia-Otocephaly Complex	Low-set ears, Microglossia, Conductive hearing impairment, Downslanted palpebral fissures, Respir...	OMIM:202650
Kagami-Ogata Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,...	OMIM:608149
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Self-mutilation, Micropenis, Overweight, Motor stereotypy, Macrotia	ORPHA:457240
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Spasticity, Rigidity, Parkinsonism, Apraxia, Bradykinesia, Dysphagia	OMIM:221820
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Episodic tachypnea, Apnea, Clumsiness, Parkinsonism, Hyperhidrosis, Myoc...	ORPHA:79264
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, Esophageal...	OMIM:619463
Zaki Syndrome	Wide nasal bridge, Preauricular skin tag, Cupped ear, Median pseudocleft lip, Anteverted nares, M...	OMIM:619648
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy...	ORPHA:398124
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Stenosis of the external auditory canal, Anotia, Conductive hearing impairment, Atresia of the ex...	OMIM:608257
Epistaxis, Hereditary	Epistaxis	OMIM:132500
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Orofaciodigital Syndrome Xv	Low-set ears, Wide nasal bridge, Midline notch of upper alveolar ridge, Anteverted nares, Hydrone...	OMIM:617127
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Agitation	OMIM:617171
Schilbach-Rott Syndrome	Bifid uvula, Prominent nose, Micrognathia, Narrow mouth, Upslanted palpebral fissure, Submucous c...	OMIM:164220
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Spasticity, Spastic paraparesis, Hand tremor, Frequent falls, Rigidity, Babinski s...	ORPHA:289560
Albers-Schönberg Osteopetrosis	Anemia, Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology	ORPHA:53
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal...	OMIM:130650
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca...	OMIM:610536
Intellectual Developmental Disorder, Autosomal Dominant 64	Low-set ears, Depressed nasal bridge, Cupped ear, Bulbous nose, Anteverted nares, Micrognathia, U...	OMIM:619188
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Micromelia, Micrognathia, Abnormal antihelix morphology, Malar flatte...	ORPHA:2145
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Trisomy 8P	Abnormal middle ear morphology, Cryptorchidism, Short nose, Annular pancreas, Short 1st metacarpa...	ORPHA:264450
Acquired Von Willebrand Syndrome	Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic valve steno...	ORPHA:99147
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Aplasia/Hypoplasia of the ey...	ORPHA:261304
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Death in infancy, Central apnea, Hypertonia	OMIM:611722
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
46,Xy Sex Reversal 4	Depressed nasal ridge, Long philtrum, Recurrent otitis media, Prominent nose, Anteverted nares, U...	OMIM:154230
Fragile X Syndrome	Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia	OMIM:300624
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, T lymphocy...	OMIM:242700
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment	ORPHA:3238
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s...	OMIM:200600
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Diarrhea, Gastroesophageal reflux, Nasal congestion, Apnea, Myoclonus...	OMIM:608643
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Facial telangiectasia, ...	ORPHA:168569
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Hypoplasia of the maxilla, Lower limb muscle weakness, Urinary bladder sphi...	OMIM:300266
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Low-set ears, Depressed nasal bridge, Unilateral renal agenesis, Highly arched eyebrow, Retrognat...	OMIM:618142
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal diaphysis morphology, Camptodactyly of finger, Broad...	ORPHA:2021
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Congestive heart failure	OMIM:300886
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Biotinidase Deficiency	Optic atrophy, Vomiting, Diarrhea, Organic aciduria, Apnea, Splenomegaly, Sensorineural hearing i...	OMIM:253260
Robinow Syndrome	Low-set ears, Flared nostrils, Multicystic kidney dysplasia, Tooth malposition, Ankyloglossia, Mi...	ORPHA:97360
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Hearing impairment, Anteverted nares, Prominent nasal bridge,...	OMIM:227330
Rapp-Hodgkin Syndrome	Carious teeth, Hearing impairment, Velopharyngeal insufficiency, Supernumerary nipple, Recurrent ...	OMIM:129400
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysphagia, Dysdiadochokinesis, Rigidity	ORPHA:228169
Raine Syndrome	Low-set ears, Arthrogryposis multiplex congenita, Natal tooth, Micrognathia, Narrow mouth, Protru...	OMIM:259775
Leukodystrophy, Hypomyelinating, 4	Spastic paraplegia, Apnea, Babinski sign, Head titubation, Flexion contracture, Progressive spast...	OMIM:612233
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Intestinal lymphangiectasia, Hypomagnesemia, Lymphopenia, H...	ORPHA:90362
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Bleeding Disorder, Platelet-Type, 25	Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta...	OMIM:620486
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Juvenile Huntington Disease	Chorea, Myoclonus, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Progressive cerebellar ataxia	ORPHA:248111
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Carious teeth, Periodontitis, Xanthelasma, Prolong...	ORPHA:79259
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Narrow chest, Hypoplastic scapulae, Femoral bowing, Dumbbell-shaped long bone, Brachydactyly, Met...	ORPHA:440354
13Q12.3 Microdeletion Syndrome	Hearing impairment, Underdeveloped nasal alae, Congenital diaphragmatic hernia, Cryptorchidism, O...	ORPHA:412035
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Gastroesophageal reflux, Hypop...	ORPHA:79345
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dent...	OMIM:257850
Joubert Syndrome 23	Tachypnea, Apnea, Sensorineural hearing impairment	OMIM:616490
49,Xxxyy Syndrome	Wide nasal bridge, Recurrent upper respiratory tract infections, Male hypogonadism, Abnormality o...	ORPHA:261534
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnor...	ORPHA:1716
Joubert Syndrome 7	Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Encephalocele, Renal cyst, ...	OMIM:611560
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal rib cage morphology, Pectus carinatum, Dumbbell-shaped femur, Flared metaphysis, Irregul...	OMIM:184252
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Hemiparkinsonism-Hemiatrophy Syndrome	Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Bradykinesia	ORPHA:306669
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Spontaneous h...	ORPHA:274
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Ta...	ORPHA:340
Neuroocular Syndrome 1	Low-set ears, Unilateral deafness, Anterior creases of earlobe, Cupped ear	OMIM:619539
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi...	OMIM:616216
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat...	OMIM:612840
Craniorachischisis	Bifid sternum, Anal atresia, Congenital diaphragmatic hernia	ORPHA:63260
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormally ossified vertebrae, Abnormal morpho...	ORPHA:2167
X-Linked Agammaglobulinemia	Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils, Neutrop...	ORPHA:47
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormality of the wrist, Radioulnar synosto...	ORPHA:2319
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Joint hypermobility, Missing ribs, Ara...	ORPHA:2759
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Depressed nasal bridge, Bifid uvula, Platyspondyly, Midface retrus...	ORPHA:1427
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, High palate,...	OMIM:612530
Martsolf Syndrome 1	Low-set ears, Tooth malposition, Micrognathia, Cryptorchidism, Finger joint hypermobility, High p...	OMIM:212720
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Camptodactyly ...	ORPHA:3201
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Dislocate...	OMIM:182212
Biotinidase Deficiency	Optic atrophy, Spastic paraparesis, Myelopathy, Organic aciduria, Hearing impairment, Respiratory...	ORPHA:79241
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Dysphagia, Cho...	OMIM:261640
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Spondylometaphyseal Dysplasia, A4 Type	Coxa vara, Limitation of joint mobility, Short palm, Flared, irregular rib ends	ORPHA:168555
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f...	OMIM:241310
Robinow Syndrome, Autosomal Dominant 2	Hearing impairment, Cleft soft palate, Micrognathia, Cryptorchidism, Sensorineural hearing impair...	OMIM:616331
Koolen-De Vries Syndrome	Pear-shaped nose, Cryptorchidism, Open mouth, Everted lower lip vermilion, High palate, Hip dislo...	OMIM:610443
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Lower limb undergrowth, Upper limb undergrowth	OMIM:613630
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Thick vermilion border, Slowed slurred speech, Nephrolithiasis	OMIM:619827
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Depressed nasal bridge, Pyloric stenosis, Bifid uvula, Small hand, Maturity-o...	ORPHA:96184
Stankiewicz-Isidor Syndrome	Low-set ears, Absent thumb, Hearing impairment, Short thumb, Retrognathia, Prominent nose, Microg...	OMIM:617516
Sepsis In Premature Infants	Hypotension, Oliguria, Reversible renal failure, Splenomegaly, Leukocytosis, Jaundice, Anemia, Ne...	ORPHA:90051
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon...	ORPHA:174
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter...	OMIM:314390
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist...	ORPHA:73230
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Microscopic Polyangiitis	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Oliguria, Vasculitis, Congestive heart failure,...	ORPHA:727
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par...	ORPHA:79078
Cat-Eye Syndrome	Anal atresia, Hip dysplasia, Abnormal rib morphology	ORPHA:195
Ohdo Syndrome, Sbbys Variant	Low-set ears, Depressed nasal bridge, Hypospadias, Dilated cardiomyopathy, Hearing impairment, Bu...	OMIM:603736
Fraser Syndrome 2	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Atresia of the external auditory canal...	OMIM:617666
Achondrogenesis Type 1B	Narrow chest, Short thorax, Long philtrum, Abnormal enchondral ossification, Abnormal rib morphol...	ORPHA:93298
Zimmermann-Laband Syndrome	Bifid uvula, Large fleshy ears, Downslanted palpebral fissures, Bulbous nose, Long eyelashes, Wid...	ORPHA:3473
Propionic Acidemia	Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Cardiomyopathy, Pancytopeni...	OMIM:606054
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo...	ORPHA:228396
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity	OMIM:613643
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Melnick-Needles Syndrome	Tooth malposition, Narrow chest, Craniofacial hyperostosis, Short distal phalanx of finger, Delay...	ORPHA:2484
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of f...	ORPHA:2077
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Shock, Ascites, Leukocytosis, Peritonitis, Neutropenia, B...	ORPHA:391673
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Low-set ears, Renal hypoplasia, Recurrent otitis media, Glue ear, Absence of renal corticomedulla...	OMIM:619758
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Depressed nasal bridge, Unilateral renal agenesis, Highly arched eyebrow, Hearing i...	OMIM:619951
Cach Syndrome	Optic atrophy, Renal hypoplasia, Limb ataxia, Dysmetria, Truncal ataxia, Dysphagia	ORPHA:135
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Midface retrusion, Diastema, Genu valgum, Overhanging n...	OMIM:619142
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Trisomy 13	Low-set ears, High, narrow palate, Abnormal helix morphology, Abnormality of the dentition, Optic...	ORPHA:3378
Donnai-Barrow Syndrome	Depressed nasal bridge, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia...	ORPHA:2143
Achondrogenesis, Type Ii	Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent ...	OMIM:200610
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Myelopathy, Vertigo, Stiff neck, Tinnitus, Cervical C2/C...	ORPHA:268882
Factor V Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee...	OMIM:227400
Diamond-Blackfan Anemia 10	Low-set ears, Choanal atresia, Morgagni diaphragmatic hernia, Conductive hearing impairment, Atre...	OMIM:613309
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Spondylometaphyseal Dysplasia, Axial	Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Narrow greater scia...	OMIM:602271
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short distal phalanx of finger, Abnormal bleeding, Bruising susceptibility, Ecchymosis...	OMIM:277450
Matthew-Wood Syndrome	Low-set ears, Renal hypoplasia, Failure to thrive, Horseshoe kidney, Vesicoureteral reflux	ORPHA:2470
Atypical Rett Syndrome	Small hand, Spasticity, Involuntary movements, Limb myoclonus, Abnormal pattern of respiration, P...	ORPHA:3095
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat...	OMIM:618775
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epistaxis, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extr...	ORPHA:465
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Wide nasal bridge, Folate-unresponsive megaloblastic anemia, Diarrhea, Glandular hypospadias, Tel...	ORPHA:2575
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy	OMIM:606053
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Tooth agenesis, Abnormality of the wrist, Micrognathia, Congenital diaphragmatic h...	ORPHA:2063
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pectus carinatum, Clinodactyly, Genu valgum, Delayed pubic bone ossification, Metaphyseal dapplin...	OMIM:184250
Meckel Syndrome 12	Low-set ears, Wide nasal bridge, Renal hypoplasia, Bifid uvula, Arthrogryposis multiplex congenit...	OMIM:616258
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia, Hepatomegaly, Macrovesicular hepat...	OMIM:600649
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico...	OMIM:617805
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:259700
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Multicystic kidney dysplasia, Supernumerary nipple, Congenital diaphra...	ORPHA:373
Johnson Neuroectodermal Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal...	ORPHA:2316
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Immunodeficiency 108 With Autoinflammation	Epistaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Impaired neutrop...	OMIM:260570
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Dental crowding, Gait ataxia, Dysmetria, Central apnea, Hypomimic face	ORPHA:320385
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Ritscher-Schinzel Syndrome 1	Low-set ears, Depressed nasal bridge, Aortic valve stenosis, Downslanted palpebral fissures, Decr...	OMIM:220210
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren...	OMIM:258860
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Overlapping toe, Diastasis recti, Open mouth, Exaggerated cupid's bow, Joint...	ORPHA:254528
Trisomy 12P	Low-set ears, Wide nasal bridge, Abnormality of the urinary system, Downturned corners of mouth, ...	ORPHA:1699
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:604804
Mesomelia-Synostoses Syndrome	High, narrow palate, Hearing impairment, Long philtrum, Aplasia/Hypoplasia of the uvula, Micromel...	ORPHA:2496
Ring Chromosome 10 Syndrome	Low-set ears, Wide nasal bridge, Long philtrum, Downslanted palpebral fissures, Large earlobe, Mi...	ORPHA:1438
Acrofacial Dysostosis, Palagonia Type	Low-set ears, High, narrow palate, Small hand, Unilateral cleft lip, Sparse lateral eyebrow, Bulb...	ORPHA:1787
Huntington Disease	Chorea, Gait ataxia, Bradykinesia, Rigidity	OMIM:143100
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Horseshoe kidney, Trident pelvis, Joint hypermobility, Kyp...	OMIM:614815
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Low-set ears, Depressed nasal bridge, Small hand, Sparse eyebrow, Aortic valve stenosis, Mild hea...	ORPHA:459061
Neuropathy, Congenital Hypomyelinating, 3	Low-set ears, Spasticity, Gastroesophageal reflux, Decreased motor nerve conduction velocity, Hea...	OMIM:618186
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Flared metaphysis, Short ribs, ...	OMIM:187601
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia, Abnormal pinna morphology	ORPHA:75389
Kleefstra Syndrome 1	Hypospadias, Natal tooth, Hearing impairment, Midface retrusion, Persistence of primary teeth, An...	OMIM:610253
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Bifid uvula, Long philtrum, Cleft upper lip, Camptodactyly of finger, 11 pairs ...	OMIM:607872
Omodysplasia 2	Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Gastroesophageal reflux, Hypospadias,...	OMIM:164745
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Carious teeth, Hearing impairment, Limited hip move...	ORPHA:93346
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Premature adrenarche, Spasticity, Recurrent otitis media, Ankyloglossia, Cleft soft...	OMIM:620450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Broad femoral neck, Upper limb undergrowth, Genu valgum, Limited elbow extensio...	OMIM:271650
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Micrognathia, Cryptorchidism, Chronic constipation, Blepharophimosis, Downturned co...	ORPHA:404440
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Depressed nasal bridge, Contractures of the large joints, Bulbous nose, Prominent nasal bridge, P...	ORPHA:324410
Isolated Cleft Lip	Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media	ORPHA:199302
Isotretinoin Syndrome	Depressed nasal bridge, Abnormality of the outer ear, Micrognathia, Spina bifida occulta, Cleft p...	ORPHA:2305
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Cryptorchidism, Protruding tongue, Sensorineural hearing impairment, Absent frontal...	OMIM:301040
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Neurofibroma	Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Kyphoscoliosis, Multip...	ORPHA:252183
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Hors...	OMIM:120330
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract	ORPHA:3266
Microphthalmia, Syndromic 3	Cryptorchidism, Sensorineural hearing impairment, Rib fusion, Supernumerary ribs, Missing ribs, H...	OMIM:206900
Unilateral Polymicrogyria	Epistaxis, Involuntary movements, Giant somatosensory evoked potentials, Pseudobulbar paralysis, ...	ORPHA:268943
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Optic atrophy, Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Chorea, A...	ORPHA:255210
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Huntington Disease-Like 1	Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines...	ORPHA:157941
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow chest, Advanced ossification of carpal bones, Thoracic hypoplasia, A...	OMIM:269250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Depressed nasal bridge, Reduced natural killer cell count, Anteverted nares, Microg...	OMIM:242860
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyramidal ...	ORPHA:13
Noonan Syndrome 4	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Dental malocclusion, Abnormal bleeding, Bru...	OMIM:610733
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Aplasia of the na...	OMIM:601812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Hypogonadism, Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Kabuki Syndrome 2	Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, Epicanthus, ...	OMIM:300867
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Hypoplasia of the maxilla, Heari...	OMIM:301108
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Short ribs, Rib fusion, Missing ribs, Vertebral fusion, Anal atresia	OMIM:271520
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Carious teeth, Micrognathia, Cryptorchidism, Sparse eyelashes, Blepharophimosis, Hy...	OMIM:613026
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Retrognathia, Knee dislocation, Joint hypermob...	OMIM:620269
Intellectual Developmental Disorder, Autosomal Dominant 22	Low-set ears, Depressed nasal bridge, Short palpebral fissure, Gastroesophageal reflux, Highly ar...	OMIM:612337
Parkinsonism-Dystonia 1, Infantile-Onset	Gastroesophageal reflux, Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Par...	OMIM:613135
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Microglossia, Camptodactyly of finger, Bell-shaped thor...	ORPHA:2839
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue, Femoral bowing, Ho...	OMIM:613091
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Bradykinesia, Rigidity	ORPHA:306686
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Metaphyseal spurs, Irregular epi...	OMIM:608728
Trisomy 1Q	Low-set ears, Depressed nasal bridge, Multicystic kidney dysplasia, Microretrognathia, Abnormalit...	ORPHA:261344
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bradykinesia, Tremor, Rigidity	OMIM:617836
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Bradycardia	ORPHA:95717
Monosomy 18P	Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, A...	ORPHA:1598
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Dyspnea, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regu...	OMIM:230800
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, T...	OMIM:616589
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Sprengel ...	OMIM:134780
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cupped ear, C...	OMIM:167730
Eales Disease	Epistaxis, Spastic paraparesis, Myelopathy, Peripheral retinal neovascularization, Transient isch...	ORPHA:40923
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Motor stereotypy	OMIM:617830
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption...	ORPHA:50814
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Alagille Syndrome	Short distal phalanx of finger, Nephrotic syndrome, Downslanted palpebral fissures, Abnormality o...	ORPHA:52
Hemophilia A	Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b...	OMIM:306700
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity	OMIM:606438
19P13.3 Microduplication Syndrome	Low-set ears, Precocious puberty, Gastroesophageal reflux, Underdeveloped nasal alae, Downslanted...	ORPHA:447980
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
Donnai-Barrow Syndrome	Low-set ears, Depressed nasal bridge, Wide anterior fontanel, Broad nasal tip, Midface retrusion,...	OMIM:222448
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Hearing impairment, Renal insufficiency, Renal tubular acidosis, Renal cyst, Re...	OMIM:614922
Chromosome 18P Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Tooth malposition, Decreased testicular size, Anteverte...	OMIM:146390
Hermansky-Pudlak Syndrome 6	Epistaxis, Recurrent upper respiratory tract infections, Prolonged bleeding time, Hearing impairm...	OMIM:614075
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Synostosis of carpal bones, Elbow dislocation...	ORPHA:1106
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Carey-Fineman-Ziter Syndrome	Scoliosis, Skeletal muscle atrophy, Long philtrum, Aplasia/Hypoplasia of the tongue, Glandular hy...	ORPHA:1358
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Wolfram Syndrome	Nephropathy, Optic atrophy, Gastrointestinal hemorrhage, Male hypogonadism, Abnormality of the ur...	ORPHA:3463
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Thick lower lip vermilion, Broad ribs, Joint stiffness, Genu valgum, Macrog...	ORPHA:583
Multiple System Atrophy 1, Susceptibility To	Ataxia, Skeletal muscle atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Hypohidrosis, Pto...	OMIM:146500
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hema...	ORPHA:449395
Mucopolysaccharidosis, Type X	Broad clavicles, Diastema, Long philtrum, Open bite, Widely spaced teeth, Broad ribs, Genu valgum...	OMIM:619698
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Squalene Synthase Deficiency	Low-set ears, Depressed nasal bridge, Hypospadias, Retrognathia, Elevated urine mesaconic acid le...	OMIM:618156
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia	ORPHA:254534
Babesiosis	Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepato...	ORPHA:108
Pfeiffer Syndrome	Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Dental crowding, Coronal cran...	OMIM:101600
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Underdeveloped nasal alae, Micrognathia, Abnor...	ORPHA:436003
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Umbilical hernia, Anteverted nares, Protruding tongue, Cryptorchidism,...	OMIM:612938
Holt-Oram Syndrome	Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A...	ORPHA:392
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Sparse eyebrow, Downslanted palpebral fissures, Respiratory distress, Stenosis of th...	OMIM:606164
Episodic Ataxia Type 4	Vertigo, Abnormal head movements, Ataxia	ORPHA:79136
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Knee flexion contracture, Distal arthrogryposis, Ptosis, Oculomotor apraxia, Camptodactyly...	OMIM:618198
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Pontocerebellar Hypoplasia Type 2	Spasticity, Gastroesophageal reflux, Upper limb hypertonia, Oral-pharyngeal dysphagia, Apnea, Bab...	ORPHA:2524
Benign Familial Neonatal Epilepsy	Apnea, Gastroesophageal reflux, Clonus, Limb myoclonus	ORPHA:1949
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Midface retrusion, Abnormal palate morphology, Convex nasal ridge, Man...	ORPHA:1540
Developmental And Epileptic Encephalopathy 80	Low-set ears, Wide nasal bridge, Increased urine alpha-ketoglutarate concentration, Short distal ...	OMIM:618580
Zttk Syndrome	Bifid uvula, Abnormality of the dentition, Small hand, Downturned corners of mouth, Cervical ribs...	OMIM:617140
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Hearing impairment, Micrognathia, Cryptorchidism, High palate, Short foot, Short 5th ...	OMIM:610759
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Midface retrusion, Decreased proportion of CD8-positive T cells, Decrease...	OMIM:617241
Cowden Syndrome 5	Thyroid adenoma, Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Scoliosis, G...	OMIM:615108
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Anemia, Retinal calcifi...	OMIM:127000
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Congenital Factor Xi Deficiency	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac...	ORPHA:329
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Crypto...	OMIM:619503
3P25.3 Microdeletion Syndrome	Abnormality of the outer ear, Micrognathia, Sensorineural hearing impairment, Epicanthus, Blephar...	ORPHA:435638
Cerebrofacioarticular Syndrome	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Renal hypoplasia, Conductive hearing im...	ORPHA:314679
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Downturned corners of mouth, Long philtrum, C...	ORPHA:2215
Larsen-Like Syndrome	Low-set ears, Recurrent otitis media, Conductive hearing impairment	OMIM:608545
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Long philtrum, Multiple rib fractures, Short thor...	ORPHA:93299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Stickler Syndrome	Hearing impairment, Open bite, Micrognathia, Genu valgum, Sensorineural hearing impairment, Short...	ORPHA:828
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Gabriele-De Vries Syndrome	Low-set ears, Micrognathia, Cryptorchidism, Epiblepharon, High palate, Pierre-Robin sequence, Spa...	OMIM:617557
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Epistaxis, Inflammation of the large intestine, Hematochezia, Bruising suscept...	OMIM:203300
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Rett Syndrome	Abnormality of the dentition, Spasticity, Gastroesophageal reflux, Skeletal muscle atrophy, Abnor...	OMIM:312750
Hereditary Orotic Aciduria	Aminoaciduria, Wide nasal bridge, Downslanted palpebral fissures, Low-set, posteriorly rotated ea...	ORPHA:30
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper l...	OMIM:613443
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:101085
Joubert Syndrome 10	Low-set ears, Conductive hearing impairment	OMIM:300804
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Abnormal midface morphology, Hypoplasia ...	ORPHA:1299
Moebius Syndrome	Aplasia of the pectoralis major muscle, Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy...	ORPHA:570
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Fatigable weaknes...	ORPHA:99845
Zygomycosis	Diarrhea, Abnormal cranial nerve morphology, Ileitis, Colitis, Neutropenia, Gastrointestinal hemo...	ORPHA:73263
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hearing impairment, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Sensorineural he...	OMIM:612541
Dravet Syndrome	Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P...	ORPHA:33069
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Methylmalonic aciduria, Cystathion...	OMIM:277400
Autosomal Recessive Omodysplasia	Low-set ears, Depressed nasal bridge, Mesomelia, Rhizomelia, Micromelia, Long philtrum, Pterygium...	ORPHA:93329
8Q21.11 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Hearing impairment, Underdeveloped nasal alae, Downtu...	ORPHA:284160
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Long philtrum, Apnea, Tented upper lip vermilion, Gait ataxia, Dysmetria, Tre...	OMIM:618056
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Downslanted palpebral fissures, Recurrent otitis media, Micrognathia, Cryptorc...	ORPHA:3304
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Telangiectasia of the skin, Ovarian serous c...	ORPHA:276280
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Pectus carinatum, Carious teeth, Abnormal epiphysis morphology, Joi...	ORPHA:582
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Arthrogryposis, Distal, Type 2B1	Wide nasal bridge, Mandibular prognathia, Long philtrum, Camptodactyly of finger, Downslanted pal...	OMIM:601680
Ohdo Syndrome, X-Linked	Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, Blephar...	OMIM:300895
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Megacystis, Camptodactyly of finger, Low-set, posteriorly rotat...	ORPHA:2604
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Submucous cleft hard palate, Joint hypermobility, Supernumerary ribs, Unila...	OMIM:619122
Czeizel-Losonci Syndrome	Hypoplastic helices, Low-set, posteriorly rotated ears, Ureteral agenesis, Myelomeningocele, Micr...	ORPHA:2437
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Fused cervical vertebrae	ORPHA:238722
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Prune Belly Syndrome	Congenital hip dislocation, Volvulus, Intestinal malrotation, Aplasia of the abdominal wall muscu...	ORPHA:2970
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma...	ORPHA:306542
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Radioulnar synostosis, Short hallux, Hip dislocation, Downturned corners o...	OMIM:194190
Barber-Say Syndrome	Low-set ears, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Hig...	OMIM:209885
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearin...	OMIM:122470
Tarp Syndrome	Low-set ears, Micrognathia, Neonatal death, High palate, Short palpebral fissure, Posteriorly rot...	OMIM:311900
Chromosome 9P Deletion Syndrome	Low-set ears, Micrognathia, Narrow mouth, Epicanthus, Narrow palpebral fissure, High palate, Hypo...	OMIM:158170
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94089
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia, Episodic vomiting	OMIM:301095
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment	OMIM:601076
Postencephalitic Parkinsonism	Involuntary movements, Vomiting, Resting tremor, Bilateral ptosis, Open mouth, Cogwheel rigidity,...	ORPHA:97349
Hermansky-Pudlak Syndrome 10	Low-set ears, Retrognathia, Apnea, Splenomegaly, Smooth philtrum, Neutropenia, Macrotia	OMIM:617050
Postaxial Acrofacial Dysostosis	Low-set ears, Supernumerary nipple, Micrognathia, Cryptorchidism, Abnormality of the kidney, Midg...	OMIM:263750
22Q11.2 Deletion Syndrome	Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Epic...	ORPHA:567
Chediak-Higashi Syndrome	Ataxia, Periodontitis, Hemophagocytosis, Bruising susceptibility, Decreased nerve conduction velo...	OMIM:214500
Xp21 Deletion Syndrome	Spasticity, Decreased muscle mass, Recurrent otitis media, Adrenal insufficiency, Primary adrenal...	ORPHA:261476
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Meier-Gorlin Syndrome 1	Low-set ears, Joint contracture of the hand, Atresia of the external auditory canal, Hearing impa...	OMIM:224690
Osteoglophonic Dysplasia	Low-set ears, Cryptorchidism, Chordee, Short neck, High palate, Hypospadias, Short nose, Choanal ...	OMIM:166250
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Dysmetria, Sensorineural hearing impairment, Truncal...	OMIM:616541
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ...	ORPHA:1677
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Facial palsy	ORPHA:2743
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Micrognathia, Narrow mouth, Everted lower lip vermilion, High pala...	OMIM:600920
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon...	ORPHA:93357
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Gastroparesis, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism,...	OMIM:618877
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Hypoplasia of the ...	OMIM:259600
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Diarrhea, Splenomegaly, Fat malabsorption	OMIM:211600
Central Hypoventilation Syndrome, Congenital, 1	Low-set ears, Central hypoventilation, Downslanted palpebral fissures, Nocturnal hypoventilation,...	OMIM:209880
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture, Narrow mouth	OMIM:614833
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Pelvic girdle muscle atrophy, Type I diabetes mel...	ORPHA:3044
Lateral Meningocele Syndrome	Low-set ears, High, narrow palate, Craniofacial hyperostosis, Conductive hearing impairment, Atre...	ORPHA:2789
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Baker-Gordon Syndrome	Self-injurious behavior, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis	OMIM:618218
Cowden Syndrome 6	Thyroid adenoma, Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Scoliosis, G...	OMIM:615109
Myhre Syndrome	Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Abnormal epiphysis morphology, Unilateral...	ORPHA:2588
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Tach...	ORPHA:90037
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Parkinsonism, Bradykinesia	ORPHA:412066
Hypermanganesemia With Dystonia 2	Spasticity, Tremor, Ankle clonus, Opisthotonus, Parkinsonism, Babinski sign, Clumsiness, Hyperhid...	OMIM:617013
Joubert Syndrome 9	Episodic tachypnea, Apnea, Stage 5 chronic kidney disease, Encephalocele, Oculomotor apraxia	OMIM:612285
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Micrognathia, Open mouth, Everted lower lip vermilion, Ataxia, Short foot, Short no...	OMIM:156200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Disinhibition, Aggressive behavior, Urinary incontinence, Dystonia, Restl...	OMIM:600795
Cutis Laxa, Autosomal Recessive, Type Ic	Micrognathia, Death in childhood, Rectal prolapse, Osteopenia, Multiple bladder diverticula, Midf...	OMIM:613177
Duane Retraction Syndrome	Wide nasal bridge, Preauricular skin tag, Skeletal muscle atrophy, Hearing impairment, Abnormal f...	ORPHA:233
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Clinodactyly of the 5th finger, Rib fusion, Celiac disease, Tapered finger	ORPHA:544488
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Bradykinesia, Limb hypertonia, Hypertonia, Parkinsonism	OMIM:617384
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M...	OMIM:620292
Cog1-Cdg	Posterior rib gap, Osteopenia, Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth phil...	ORPHA:263508
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Alternating Hemiplegia Of Childhood	Diarrhea, Oral-pharyngeal dysphagia, Tetraparesis, Arrhythmia, Abnormal pyramidal sign, Ataxia, D...	ORPHA:2131
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypoplastic iliac wi...	ORPHA:163966
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Bainbridge-Ropers Syndrome	Low-set ears, Supernumerary nipple, Micrognathia, Cryptorchidism, Epicanthus, Everted lower lip v...	OMIM:615485
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Depressed nasal bridge, Hearing impairment, Downslanted palpebral fissures, Urolith...	OMIM:300661
Foxg1 Syndrome	Bruxism, Stereotypical hand wringing, Decreased body weight, Paroxysmal bursts of laughter, Dysto...	ORPHA:561854
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Delayed skeletal ...	OMIM:608154
Juvenile Polyposis Syndrome	Low-set ears, Abnormal onset of bleeding, Diarrhea, Stomach cancer, Narrow mouth, Juvenile gastro...	ORPHA:2929
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormality of the vertebral colu...	OMIM:109120
Larsen Syndrome	Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Cryptorchidism, Beaking of...	OMIM:150250
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath...	ORPHA:79430
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Hyperphosphatasia-Intellectual Disability Syndrome	Supernumerary nipple, Micrognathia, Telangiectasia, Epicanthus, Ataxia, High palate, Downturned c...	ORPHA:247262
Marden-Walker Syndrome	Low-set ears, High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Congenital co...	OMIM:248700
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Low-set ears, Depressed nasal bridge, Nephrocalcinosis, Abnormality of the dentition, Hydroureter...	OMIM:615398
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Long philtrum, Horizontal ribs, Short ribs, ...	OMIM:617895
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Delayed eruption of teeth, Bruising susceptibility, Premature loss of primary...	ORPHA:667
Nasal Bones, Absence Of	Short columella, Narrow naris	OMIM:161480
Icf Syndrome	Low-set ears, Depressed nasal bridge, Umbilical hernia, Lymphopenia, Micrognathia, Communicating ...	ORPHA:2268
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Micrognathia, Short lingual frenulum, Cryptorchidism, Short hard palate, Short neck...	OMIM:180700
Marshall-Smith Syndrome	Choanal atresia, Conductive hearing impairment, Retrognathia, Anteverted nares, Gingival overgrow...	ORPHA:561
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Hereditary Late-Onset Parkinson Disease	Resting tremor, Frequent falls, Chronic constipation, Rigidity, Orthostatic hypotension due to au...	ORPHA:411602
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Cleft lip, Hama...	OMIM:616300
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Genu valgum, Barrel-s...	OMIM:223800
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Shock, Lymphopenia, Leukopenia, Renal insufficiency, Leukocytosis, Thrombo...	ORPHA:319213
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Fractured radius, Unilateral cleft lip, Thoracic hypoplasia, Flared metaphysis, Decre...	OMIM:616897
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Low-set ears, Gastroesophageal reflux, Apnea, Open mouth, Hypertension, Hyperhidrosis, Bradycardi...	OMIM:614653
15Q Overgrowth Syndrome	Low-set ears, Abnormality of the outer ear, Ureterovesical stenosis, Contracture of the proximal ...	ORPHA:314585
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Hypocalcemia	OMIM:618440
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of tongue, Thora...	ORPHA:2752
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Chorea, Gait ataxia, Stereotypical hand wringing, Compulsive behaviors, ...	OMIM:618917
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent...	OMIM:306900
Seckel Syndrome 1	Low-set ears, Dental malocclusion, Dental crowding, Selective tooth agenesis, Hypoplasia of proxi...	OMIM:210600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Vomiting, Gastroesophageal reflux, Horizontal eyebrow, Hemiballismus, Chorea, Almond-shaped palpe...	ORPHA:522077
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Dental crowding, Natal tooth, Flared metaphysis, Broad long bones, Bro...	OMIM:269300
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Bell-shaped thorax, Short hard palate, High palate, Pierre-Robi...	OMIM:117650
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Skeletal muscle atrophy, Hydrocephalus, Hyperto...	ORPHA:31
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Malan Syndrome	Midface retrusion, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla...	OMIM:614753
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Short palpebral fissure, Downturned corners of mouth, Anteriorly placed a...	OMIM:217980
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Narrow nose,...	OMIM:617602
Immunodeficiency 13	Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent otitis media, Lymphopeni...	OMIM:615518
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Potocki-Lupski Syndrome	Hearing impairment, Failure to thrive, Oral-pharyngeal dysphagia, Abnormal renal morphology, Hype...	OMIM:610883
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Petechiae, Mu...	ORPHA:903
Trisomy 10P	Low-set ears, Decreased muscle mass, Micrognathia, Absent gallbladder, Epicanthus, Abnormality of...	ORPHA:171929
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Abnormal bleeding, Prolonged prothrombin time	OMIM:610842
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Short neck, Short nose, Cleft lip...	OMIM:616894
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Hand tremor, Progressive extrapyramidal muscular rigidity, Chorea,...	ORPHA:53351
Mucopolysaccharidosis Type 2, Severe Form	Hepatosplenomegaly, Sensorineural hearing impairment, Arrhythmia, Wide nose, Flexion contracture,...	ORPHA:217085
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Conductive hearing impairment, Failure to thrive, Microphallus, Vesicoureteral ...	OMIM:603467
Myhre Syndrome	Low-set ears, Limitation of joint mobility, Hearing impairment, Enlarged vertebral pedicles, Narr...	OMIM:139210
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Hepatic steatosis, Prolonged QT interval, Bradycardia, Hepatomegaly, Tachycardia, A...	OMIM:613327
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Glutaric aciduria, Cardiomyopathy, Micrognathia, Apnea, D-2-hydroxyglutaric...	OMIM:600721
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul...	ORPHA:18
Idiopathic Aplastic Anemia	Gingival bleeding, Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecch...	ORPHA:88
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Lymphoid Interstitial Pneumonia	Pulmonary venous hypertension, Raynaud phenomenon, Hepatomegaly, Mediastinal lymphadenopathy, Enl...	ORPHA:79128
Developmental Delay With Or Without Dysmorphic Facies And Autism	Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Cryptorchidism, Congenital ...	OMIM:618454
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Retrognathia, Prominent nasal bridge, Micrognathia, Death in chi...	OMIM:604273
Fraser Syndrome 3	Low-set ears, Hypoplasia of the bladder, Bilateral renal agenesis, Short toe, Ureteral agenesis, ...	OMIM:617667
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sple...	OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Shoulder girdle muscle weakness, Exercise-induced myoglobinuria, Calf muscle ...	OMIM:607155
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Hearing impairment, Lacrimal gland hypoplasia, Delayed eruption of pri...	OMIM:149730
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Stenosis of the external audit...	ORPHA:2878
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Spleno...	OMIM:603909
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Self-injurious behavior, Obesity, Sensorineural hearing impairment, Stereotyp...	OMIM:600430
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Ataxia, Spasticity, Chorea, Tremor, Rigidity, Babinski sign, Parkinsonism, Hypomim...	OMIM:606159
Tetanus	Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev...	ORPHA:3299
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Spasticity, Apnea, Dysphagia, Neutropenia, Hypospadias	OMIM:618253
Osteogenesis Imperfecta, Type Ii	Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh...	OMIM:166210
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Developmental And Epileptic Encephalopathy 90	Ankle clonus, Apneic episodes in infancy, Babinski sign, Hypothyroidism, Limb hypertonia, Constip...	OMIM:301058
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype...	ORPHA:2414
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno...	ORPHA:79301
Hypoglossia With Situs Inversus	Low-set ears, Microglossia, Polysplenia, Micrognathia, Narrow mouth, Hypodontia, Asplenia, High p...	OMIM:612776
Meier-Gorlin Syndrome 4	Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Delayed skeletal maturation, Thick lowe...	OMIM:613804
Mucopolysaccharidosis Type 2, Attenuated Form	Hepatosplenomegaly, Sensorineural hearing impairment, Arrhythmia, Wide nose, Flexion contracture,...	ORPHA:217093
Distal Duplication 5Q	Low-set ears, Carious teeth, Absent thumb, Long philtrum, Downslanted palpebral fissures, Promine...	ORPHA:96097
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Hearing impairment, Respiratory distress, Otitis media, Sinusitis, Absent inner ...	OMIM:606763
4Q21 Microdeletion Syndrome	Low-set ears, Self-injurious behavior, Hearing impairment, Tremor, Motor stereotypy	ORPHA:238750
Goldberg-Shprintzen Syndrome	Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge,...	OMIM:609460
Martin-Probst Syndrome	Low-set ears, Wide nasal bridge, Telecanthus, Dental malocclusion, Thick lower lip vermilion, Pan...	OMIM:300519
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Rabin-Pappas Syndrome	Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Broad nasal tip, Conductive he...	OMIM:620155
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Prominent antihelix, Gait ataxia, Dystonia, Motor stereotypy	OMIM:617807
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Wide nasal bridge, Short palpebral fissure, Downturned corners of mouth, Underdevel...	OMIM:614230
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Benign Familial Infantile Epilepsy	Apnea, Limb myoclonus, Hypertonia	ORPHA:306
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia	OMIM:605735
Sporadic Pheochromocytoma/Secreting Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Adrenal pheochromocytoma, Paroxysmal ve...	ORPHA:276621
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Overfolded helix...	ORPHA:2876
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Micrognathia, Prominent nasal bridge, Glossoptosis, Cleft palate, Hyperextensi...	OMIM:618356
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Delayed skeletal matur...	OMIM:613805
Monosomy 9P	Low-set ears, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Abnormal antihe...	ORPHA:261112
Tetrasomy 5P	Low-set ears, Wide nasal bridge, Long philtrum, Congestive heart failure, Respiratory distress, A...	ORPHA:3309
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Cryptorchidism, Everted lower lip vermilion, Spastic tetraplegia, Macrotia, Precoci...	ORPHA:96092
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Low-set ears, Optic atrophy, Elevated urine acetoacetic acid level, Spasticity, Skeletal muscle a...	OMIM:620089
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hearing impairment, Apnea, Gait ataxia, Protruding tongue, Opisthotonus, Limb hypertonia, Ataxia,...	OMIM:619580
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Thyroid lymphangiectasia, Pulmonary lymp...	OMIM:235255
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Spasticity, Broad nasal tip, Hearing impairment, Long philtrum, Macrotia, Down...	OMIM:300749
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Vocal cord paresis, Spasticity, Hearing impairment, Urinary glycosamin...	ORPHA:581
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive hea...	ORPHA:2095
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, High palate, Congenital diaphragmatic hernia	OMIM:619699
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Epicanthus, Tetraplegia...	OMIM:257300
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Narro...	OMIM:617746
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conductive hearing impairment, Atresia o...	OMIM:106260
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis...	OMIM:231070
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Leg muscle stiffness, Myoclonus, Gait ataxia, Rigidity, Ab...	ORPHA:391411
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Hearing impairment	OMIM:166220
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Hearing impairment, Underdeveloped nasal alae, Cleft mandibl...	ORPHA:364577
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Narrow mouth, Patellar aplasia, Perineal fistula,...	OMIM:218600
8P23.1 Microdeletion Syndrome	Low-set ears, Wide nasal bridge, Micrognathia, Prominent nasal bridge, Congenital diaphragmatic h...	ORPHA:251071
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Mandibuloacral Dysplasia	Dental crowding, Contractures of the large joints, Abnormal tongue morphology, Delayed cranial su...	ORPHA:2457
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Stromme Syndrome	Low-set ears, Accessory spleen, Wide nasal bridge, Bilateral renal hypoplasia, Intestinal malrota...	OMIM:243605
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmu...	OMIM:601859
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy, Generalized amyotrophy, Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity,...	ORPHA:3306
Acrocallosal Syndrome	Low-set ears, Hearing impairment, Everted upper lip vermilion, Narrow mouth, Cryptorchidism, Open...	OMIM:200990
Tenosynovial Giant Cell Tumor	Abnormal tympanic membrane morphology, Abnormal auditory canal morphology, Conductive hearing imp...	ORPHA:66627
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Conductive hearing impairment, Broad colume...	ORPHA:1001
Poikiloderma With Neutropenia	Depressed nasal bridge, Sparse eyebrow, Carious teeth, Retrognathia, Underdeveloped nasal alae, L...	OMIM:604173
Sanjad-Sakati Syndrome	Depressed nasal bridge, Abnormality of the dentition, Small hand, Long philtrum, Low-set, posteri...	ORPHA:2323
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Mesomelia, Long p...	OMIM:618529
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Sprengel anomaly, Brachydactyly, Abnormal rib morp...	ORPHA:2180
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Thoracolumbar kyphosis, Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Thoracic ...	OMIM:151210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Distal Duplication 17Q	Accessory spleen, Depressed nasal bridge, Rhizomelia, Low-set, posteriorly rotated ears, Short co...	ORPHA:3379
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors...	ORPHA:3097
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Depressed nasal bridge, Decreased circulating parathyroid hormone level, Bifid uvul...	OMIM:241410
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Young-Onset Parkinson Disease	Spasticity, Diarrhea, Gastroparesis, Tremor, Rigidity, Constipation, Abnormal autonomic nervous s...	ORPHA:2828
Dystonia 16	Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Brady...	OMIM:612067
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Fryns Syndrome	Multicystic kidney dysplasia, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Shor...	ORPHA:2059
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Autosomal Dominant Robinow Syndrome	Low-set ears, Hearing impairment, Elbow dislocation, Open bite, Micrognathia, Cryptorchidism, Ano...	ORPHA:3107
Meier-Gorlin Syndrome 3	Low-set ears, Hypospadias, Hypoplasia of the maxilla, Microretrognathia, Tracheomalacia, Delayed ...	OMIM:613803
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia...	ORPHA:2911
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impai...	ORPHA:2554
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Long philtrum, Flared metaphysis, Broad ribs, Joint...	ORPHA:370930
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P...	OMIM:300367
Hermansky-Pudlak Syndrome 7	Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi...	OMIM:614076
Pulmonary Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ...	ORPHA:2038
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Dec...	OMIM:212140
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia	ORPHA:2668
Cowden Syndrome 1	Thyroid adenoma, Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Scoliosis, G...	OMIM:158350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su...	OMIM:612447
Menke-Hennekam Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Short palpebral fissure, He...	OMIM:618333
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Underdeveloped tragus, Pancytopenia, Lymphopenia, Open mout...	OMIM:620654
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Splenomegaly, Joint swelling, Neutrophilia, Stomatitis, Osteolysis, Fu...	OMIM:612852
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Tremor, Con...	ORPHA:240071
Linear Skin Defects With Multiple Congenital Anomalies 2	Long philtrum, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short nose	OMIM:300887
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure...	ORPHA:97362
Joubert Syndrome 33	Oculomotor apraxia, Apnea, Splenomegaly, Ataxia	OMIM:617767
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Short 1st metaca...	OMIM:620568
Autosomal Dominant Hypocalcemia	Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Fatigable weakness	ORPHA:428
Au-Kline Syndrome	Chronic kidney disease, Supernumerary nipple, Open mouth, Cryptorchidism, Sensorineural hearing i...	OMIM:616580
Lethal Congenital Contracture Syndrome 9	Low-set ears, Increased variability in muscle fiber diameter, Joint contracture of the hand, Musc...	OMIM:616503
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
12Q14 Microdeletion Syndrome	Renal hypoplasia, Failure to thrive, Horseshoe kidney, Tremor, Ectopic kidney	ORPHA:94063
Cenani-Lenz Syndrome	High, narrow palate, Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syn...	ORPHA:3258
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hypermobility, Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology	ORPHA:2772
Brachycephaly, Trichomegaly, And Developmental Delay	Low-set ears, Overfolded helix, Conductive hearing impairment	OMIM:617412
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sensorineural hearing impairment, Ga...	ORPHA:2072
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Short ribs, Joint hy...	OMIM:250420
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl...	OMIM:177170
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Abnormal renal physiology	OMIM:266500
Hyperparathyroidism, Transient Neonatal	Splenic cyst, Unilateral renal agenesis, Enlarged kidney, Ovarian cyst	OMIM:618188
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Obesity, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Comp...	OMIM:618430
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Low-set ears, Micrognathia, Narrow mouth, Congenital diaphragmatic hernia, Genu valgum, Radioulna...	OMIM:245600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors	ORPHA:397973
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Low-set ears, Wide nasal bridge, Carious teeth, Cupped ear, Dental malocclusion, Microretrognathi...	OMIM:615560
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Charcot-Marie-Tooth Disease Type 1E	Calf muscle hypoplasia, Peroneal muscle atrophy, Joint contracture of the hand, Hand muscle weakn...	ORPHA:90658
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulon...	ORPHA:99931
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teet...	OMIM:225500
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, High palate, Macrotia, Wide nose, Precocious puberty, Delaye...	ORPHA:769
Seckel Syndrome 2	Microglossia, Prominent nose, Micrognathia, Microdontia, Ectopic kidney, Hypospadias	OMIM:606744
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Rhabdoid Tumor	Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Nasal polyposis, Vomiting, Abnormality of the nose, Pancreatic adeno...	ORPHA:2869
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Desmosterolosis	Low-set ears, Spasticity, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Renal hypoplas...	ORPHA:35107
Campomelia, Cumming Type	Clubbing of toes, Abnormally ossified vertebrae, Abnormal thorax morphology, Death in infancy, Ab...	ORPHA:1318
Micro Syndrome	Wide nasal bridge, Optic atrophy, Abnormal localization of kidney, Spasticity, Low-set, posterior...	ORPHA:2510
Diaphanospondylodysostosis	Myelomeningocele, Absent or minimally ossified vertebral bodies, Short neck, Multiple renal cysts...	ORPHA:66637
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Arrhythmia, Tendon rupture, Rectal prolapse, High, narrow palate, Gastroesophageal re...	ORPHA:285
Atelis Syndrome 2	Low-set ears, Hyperinsulinemia, Micrognathia, Epicanthus, High palate, Short palpebral fissure, G...	OMIM:620185
Pallister-Hall Syndrome	Auricular tag, Atresia of the external auditory canal, Hypopituitarism, Central adrenal insuffici...	ORPHA:672
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Sensorineural hearing impairment, Hydronephrosis,...	ORPHA:2838
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Craniometaphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Optic atrophy, Facial palsy	OMIM:218400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Bowing of the long ...	ORPHA:3035
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear...	ORPHA:2399
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Neurogenic bladder, Abnormal pyrami...	ORPHA:171695
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular...	OMIM:201475
Marbach-Schaaf Neurodevelopmental Syndrome	Enuresis nocturna, Hemidystonia, Recurrent otitis media, Obesity, Recurrent hand flapping, Tremor...	OMIM:619680
Fanconi Anemia, Complementation Group P	Short palpebral fissure, Absent thumb, Hearing impairment, Short thumb, Horseshoe kidney, Bulbous...	OMIM:613951
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Open mouth, Protruding tongue, Sensorineural hearing impairment, Short neck, Everte...	OMIM:212066
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint hypermobility,...	OMIM:618395
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis	OMIM:615506
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Low-set ears, Pain insensitivity, Bruxism, Chorea, Decreased body weight, Motor stereotypy, Repet...	OMIM:300260
Hermansky-Pudlak Syndrome 11	Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Menorrhagia	OMIM:619172
Kinsship Syndrome	Low-set ears, Renal hypoplasia, Failure to thrive, Horseshoe kidney, Bruxism, Motor stereotypy	OMIM:619297
Fetal Akinesia Deformation Sequence	Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of finger, Pterygium, M...	ORPHA:994
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Retrognathia, Furrowed tongue, Anteverted nares, Tented upper lip vermilion, Hydron...	OMIM:616449
Wolfram Syndrome 1	Ataxia, Optic atrophy, Hydroureter, Hearing impairment, Cardiomyopathy, Sideroblastic anemia, Tre...	OMIM:222300
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Skeletal muscle atrophy, Retrognathia, Micrognathia, Narrow mouth, Splenomegaly, Pr...	OMIM:608779
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Attention ...	OMIM:617914
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Splenom...	OMIM:139090
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Small hand, Large fleshy ears, Narrow mouth, Urinary bla...	ORPHA:280633
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, Prominent crus of helix, Supernumerary nipple, Cryptorchidism, Chronic constipation...	OMIM:619194
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Leukocytosis, Splenomegaly, Hypocalcemia, Hypophosphatemia, Hepatomegaly, Hyp...	ORPHA:289157
Arthrogryposis Multiplex Congenita 5	Micrognathia, Acanthocytosis, Poikilocytosis, Optic disc pallor, Macrotia, Hand tremor, Hypertoni...	OMIM:618947
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Bel...	OMIM:260660
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup...	ORPHA:352665
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Pulmonary lymphangie...	ORPHA:1655
White-Sutton Syndrome	Low-set ears, Abnormality of the outer ear, Hypoplastic cervical vertebrae, Micrognathia, Congeni...	OMIM:616364
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Apnea, Hypoventilation, Ptosis, Dysphagia, Facial palsy, Arthrogryposis ...	OMIM:617143
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Facial palsy	OMIM:123000
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Cryptorchidism, Protru...	OMIM:214100
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Epicanthus, Bilateral s...	OMIM:614527
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re...	ORPHA:247353
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Short distal phalanx of finger, Sparse eyebrow, Long philtrum, Camp...	ORPHA:77258
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Micrognathia, Cryptorchidism, Humeroradial synostosis, Sensorineu...	OMIM:151050
Quebec Platelet Disorder	Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia	OMIM:601709
Chromosome 13Q33-Q34 Deletion Syndrome	Hearing impairment, Micrognathia, Open mouth, Cryptorchidism, Irregular dentition, Encephalocele,...	OMIM:619148
Rhyns Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:602152
Nail-Patella Syndrome	Patellar aplasia, Disproportionate prominence of the femoral medial condyle, Patellar dislocation...	OMIM:161200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Delayed eruption of teet...	OMIM:264700
Diabetic Embryopathy	Spinal dysraphism, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Cryptorch...	ORPHA:1926
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Male hypogonadism, Diarrhea, Cholelithiasis, Type I diabetes mellitus, Nephro...	OMIM:240300
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Hermansky-Pudlak Syndrome 4	Epistaxis, Abnormal bleeding, Bruising susceptibility, Absent platelet dense granules, Menorrhagia	OMIM:614073
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Hypoplastic iliac body, Radi...	OMIM:271640
Dentici-Novelli Neurodevelopmental Syndrome	Motor stereotypy, Hearing impairment, Macrotia	OMIM:619877
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Ab...	OMIM:253250
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Neurofaciodigitorenal Syndrome	Low-set ears, Unilateral renal agenesis, Hypoplasia of the premaxilla, Abnormal oral mucosa morph...	ORPHA:2673
Greenberg Dysplasia	Low-set ears, Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Mi...	OMIM:215140
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Carious teeth, Ureterocele, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus,...	OMIM:616734
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c...	ORPHA:158057
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce...	OMIM:308240
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Central hypoventilation, Apnea, Dysmetria, Ataxia, Dysphagia	OMIM:618233
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Low-set, posteriorly rotated ears, Bulbous nose, Micrognathia, Cryptorchidism,...	ORPHA:1237
Congenital Myopathy 17	Low-set ears, Renal hypoplasia, Failure to thrive in infancy, Ureteropelvic junction obstruction,...	OMIM:618975
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp...	ORPHA:89936
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Abnormality of the dentition, Femoral bowing, Joint hypermobility, Bowing of the long ...	OMIM:617952
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology	ORPHA:280195
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec...	OMIM:618652
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,...	ORPHA:84081
Mucopolysaccharidosis, Type Iva	Pectus carinatum, Constricted iliac wing, Carious teeth, Widely spaced teeth, Grayish enamel, Gen...	OMIM:253000
Mosaic Trisomy 1	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Camptodactyly of fing...	ORPHA:1692
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Broad nasal tip, Dental crowding, Wide mouth, Protruding tongue, Submucous cle...	OMIM:618106
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Usher Syndrome, Type Ig	Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment	OMIM:606943
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hepatitis, Hypomagnesemia, Autoimmune hemolytic anemia, Splenomegaly, Hypocalcem...	ORPHA:37042
Osteogenesis Imperfecta, Type X	Thin ribs, Dentinogenesis imperfecta, Narrow chest, Osteopenia, Thoracic hypoplasia, Broad ribs, ...	OMIM:613848
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Epicanthus, Euryblepharon, Long nose, Wide nose, Hydroureter, Optic disc coloboma, ...	ORPHA:2995
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, 11 pa...	OMIM:300863
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Un...	OMIM:164210
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Urinary bladder sphincter dysfunction, Gait ataxia, Intention tremor, Dysmetria, Rig...	ORPHA:93256
Recombinant 8 Syndrome	Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Abnormality of the dentition,...	ORPHA:96167
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Jansen-De Vries Syndrome	Low-set ears, Anteverted nares, Wide mouth, Thin upper lip vermilion, Hyperlordosis, Posteriorly ...	OMIM:617450
Pearson Syndrome	Bone marrow hypocellularity, Pigmentary retinopathy, Hypomagnesemia, Exocrine pancreatic insuffic...	ORPHA:699
Cri-Du-Chat Syndrome	Low-set ears, Optic atrophy, Small for gestational age, Hearing impairment, Stenosis of the exter...	OMIM:123450
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met...	OMIM:187600
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Mesomelia, Spinal dysraphism, Micromelia, Low-set, posteriorly rotated ears, M...	ORPHA:1908
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Narrow chest, Tooth agenesis, Decreased calvarial ossification, Multiple rib fracture...	OMIM:616229
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Sparse eyelashes, Absent e...	OMIM:264090
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chro...	ORPHA:90033
Feingold Syndrome	Depressed nasal bridge, Short palpebral fissure, Annular pancreas, Duodenal atresia, Abnormality ...	ORPHA:1305
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Narrow chest, Toe syndactyly, Rudimentary fibula, Elbow flexion ...	OMIM:200980
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short distal phalanx of finger, Sparse eyebrow, Broad columella, Underdeveloped nas...	OMIM:250410
Progressive Supranuclear Palsy	Blepharospasm, Vertigo, Tremor, Rigidity, Bradykinesia, Dysphagia	ORPHA:683
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Ectopic thymus tissue, Micrognathia, Cryp...	OMIM:113620
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Mitral...	OMIM:252500
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Congestive heart failure, Cerebral ischemia, High-output congestive...	ORPHA:137667
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos...	OMIM:615631
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Keratoconus Posticus Circumscriptus	Cleft upper lip, Vesicoureteral reflux, Limited elbow extension and supination, Short neck, Cleft...	OMIM:244600
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairm...	ORPHA:261250
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Death in infancy, Vertebral segmentation defect, Ureteral atresia, Ver...	OMIM:618845
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Cupped ear, Anteriorly placed anus, Micrognathia, Hearing abnormality, Upslant...	ORPHA:1352
Fatal Familial Insomnia	Urinary retention, Apnea, Myoclonus, Constipation, Hyperhidrosis, Abnormal autonomic nervous syst...	OMIM:600072
C Syndrome	Low-set ears, Wide nasal bridge, Micromelia, Anteverted nares, Renal cortical cysts, Wide mouth, ...	OMIM:211750
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal auditory evoked potentials, Cerebral palsy, Sensorineural hearing ...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Conjunctival icterus, Cerebral palsy, Sensorineural hearing ...	ORPHA:529808
Kabuki Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Sensorineural hearing impairment, Vertebral clef...	ORPHA:2322
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Perlman Syndrome	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Distal ileal atresia, Renal hamartoma, E...	OMIM:267000
Mucopolysaccharidosis Type 2	Sensorineural hearing impairment, Arrhythmia, Wide nose, Decreased nerve conduction velocity, Fle...	ORPHA:580
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Motor stereotypy	OMIM:619690
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega...	ORPHA:549
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Motor stereotypy, Failure to thrive	OMIM:617393
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Congenital diaphr...	ORPHA:887
Mosaic Trisomy 8	Broad nasal tip, Arthrogryposis multiplex congenita, Hearing impairment, Camptodactyly of finger,...	ORPHA:96061
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Atresia of the external auditory canal, Hearing impairment, Tracheomala...	ORPHA:268249
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Hearing impairment, Delayed ossification of carpal bones, ...	OMIM:620099
Desmosterolosis	Low-set ears, Hypoplastic nasal bridge, Joint contracture of the hand, Cupped ear, Arthrogryposis...	OMIM:602398
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Low-set ears, Depressed nasal bridge, Wide nasal bridge, Absent nipple, Downslanted palpebral fis...	OMIM:104350
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Antev...	ORPHA:2031
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy...	ORPHA:1134
Opitz Gbbb Syndrome	Low-set ears, Natal tooth, Hearing impairment, Ankyloglossia, Micrognathia, Congenital diaphragma...	ORPHA:2745
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:241530
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Abnormal bone ossification, Met...	ORPHA:175
Severe Intellectual Disability And Progressive Spastic Paraplegia	Dystonia, Overweight, Motor stereotypy	ORPHA:280763
Cole-Carpenter Syndrome 2	Thin ribs, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosyno...	OMIM:616294
Lathosterolosis	Hearing impairment, Downturned corners of mouth, Long philtrum, Horseshoe kidney, Bulbous nose, A...	ORPHA:46059
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Skin Creases, Congenital Symmetric Circumferential, 1	Low-set ears, Depressed nasal bridge, Short palpebral fissure, Long philtrum, Micrognathia, Narro...	OMIM:156610
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Tetralogy of ...	OMIM:601186
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis	OMIM:617092
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Motor stereotypy, Prominent ear helix	ORPHA:411986
Sclerosteosis 1	Broad clavicles, Tooth malposition, Abnormal pelvic girdle bone morphology, Dental malocclusion, ...	OMIM:269500
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Hypopnea, Apnea, 3-Methylglutaconic aciduria, Sensorineural hearing im...	OMIM:617248
Hermansky-Pudlak Syndrome 8	Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ...	OMIM:614077
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint...	OMIM:151200
Leprosy	Epistaxis, Abnormal facial skeleton morphology, Testicular mass, Skeletal muscle atrophy, Paralyt...	ORPHA:548
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Bilateral conductive hearing impairment, Interictal epileptiform activity	OMIM:617802
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Slender long bone, Bowing of limbs due to multiple fracture...	OMIM:259420
Ritscher-Schinzel Syndrome 4	Chorea, Impulsivity, Aggressive behavior, Dysphagia, Ataxia, Micropenis, Athetosis, Motor stereot...	OMIM:619435
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Sensorineural hearing impairment, Hyd...	OMIM:618460
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, Narrow mouth, Cr...	OMIM:224410
Igg4-Related Ophthalmic Disease	Abnormality of the sphenoid sinus, Prostatitis, Abnormality of the anterior pituitary, Abnormalit...	ORPHA:449563
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Upper limb undergrowth...	ORPHA:94068
8P11.2 Deletion Syndrome	Depressed nasal bridge, Anosmia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Mi...	ORPHA:251066
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy...	OMIM:146255
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:619260
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopat...	ORPHA:116
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowing, Limited e...	OMIM:602111
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Pigmentary retinopathy, Hypocalcemia, Diffuse hepatic steatosis	ORPHA:746
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Mhc Class I Deficiency 1	Nasal polyposis, Chronic otitis media, Chronic sinusitis	OMIM:604571
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Multiple Mitochondrial Dysfunctions Syndrome 7	Anteverted nares, Apnea, Gingival overgrowth, Open mouth, Myoclonus, Ankle clonus, Lethargy, Thro...	OMIM:620423
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Prominent nose, Renal tubular dysfunction, Prominence of the p...	OMIM:614886
Chromosome 5P13 Duplication Syndrome	Low-set ears, Self-injurious behavior, Vesicoureteral reflux, Posteriorly rotated ears, Compulsiv...	OMIM:613174
Teebi-Shaltout Syndrome	Low-set ears, Aortic valve stenosis, Narrow mouth, High, narrow palate, Broad nasal tip, Ureteral...	OMIM:272950
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Depressed nasal bridge, Prominent crus of helix, Open mouth, Protruding tongue, Joi...	OMIM:617804
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Microglossia, Short thumb, Narrow mouth, Neonatal death, Fibular hypoplasia, Hy...	OMIM:227270
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ataxia, Hypotension, Diarrhea, Ketonuria, Dilated cardiomyopathy, Spas...	ORPHA:20
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Sparse eyebrow, Thin eyebrow, Prominent nasal bridge, Micrognathia, Malar flattening,...	OMIM:609944
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia	OMIM:607143
Hyperekplexia 3	Gastroesophageal reflux, Apnea, Myoclonus, Hiatus hernia, Syncope, Hypertonia, Exaggerated startl...	OMIM:614618
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous system physiology...	OMIM:300894
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Congenital diaphragmatic hern...	ORPHA:250999
Fanconi Anemia, Complementation Group L	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Anotia, Attention deficit hyperactivit...	OMIM:614083
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Hooded upper eyelid, Broad nasal tip, Downturned corners of mouth, Long philtrum, Anteverted nare...	OMIM:618548
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Gastroesophageal reflux, Dental crowding, Urinary retention, Widely spaced teeth, Apnea, ...	OMIM:617799
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Hypospadias, Cholelithiasis, High, narrow palate, Retrognathia, Male urethral meatu...	ORPHA:464738
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Thrombocytosis, Leukoc...	ORPHA:94093
C Syndrome	Multicystic kidney dysplasia, Limitation of joint mobility, Micrognathia, Congenital diaphragmati...	ORPHA:1308
14Q22Q23 Microdeletion Syndrome	Atresia of the external auditory canal, Hearing impairment, Micrognathia, Cryptorchidism, Epicant...	ORPHA:264200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, C...	ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Apnea, Cryptorchidism, Tremor, Hypertonia, Flexion contracture	OMIM:608093
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Osteopenia, Broad femoral neck, Thickened cortex of l...	ORPHA:488434
Generalized Arterial Calcification Of Infancy	Hearing impairment, Adrenal calcification, Sensorineural hearing impairment, Pancreatic calcifica...	ORPHA:51608
Microcephaly-Micromelia Syndrome	Low-set ears, Short palpebral fissure, Absent thumb, Short tibia, Micromelia, Micrognathia, Narro...	OMIM:251230
Osteogenesis Imperfecta, Type Xv	Thin ribs, Recurrent fractures, Bowing of limbs due to multiple fractures, Joint hypermobility	OMIM:615220
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogo...	ORPHA:465508
Intellectual Developmental Disorder, X-Linked 98	Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereot...	OMIM:300912
Immunodeficiency 9	Lymphopenia, Recurrent aphthous stomatitis, Myopathy, Death in infancy, Hypoplasia of the thymus,...	OMIM:612782
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili...	OMIM:620076
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul...	OMIM:618027
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypocalcemia, Hyperammonemia, Elevated circulating c...	ORPHA:26793
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Cardiomegaly, A...	ORPHA:42
Tetraamelia Syndrome 2	Low-set ears, Absent nipple, Microretrognathia, Ankyloglossia, Micrognathia, Bilateral cleft lip,...	OMIM:618021
Ulnar-Mammary Syndrome	Pectus carinatum, Short distal phalanx of finger, Abnormal clavicle morphology, Camptodactyly of ...	ORPHA:3138
Hermansky-Pudlak Syndrome 5	Epistaxis, Bruising susceptibility, Absent platelet dense granules, Thrombocytopenia, Prolonged b...	OMIM:614074
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint hypermobility, Bowing of the ...	ORPHA:2050
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Low-set ears, Choanal atresia, Secretory diarrhea, Optic disc coloboma, Intestinal malrotation, R...	OMIM:270420
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Atresia of the external auditory canal, Velopharyngeal insufficiency, Micrognathia,...	OMIM:154400
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia	ORPHA:391307
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Cryptorchidism, Wide nasal ridge, Verteb...	ORPHA:531151
Parkinson Disease, Late-Onset	Resting tremor, Tremor, Rigidity, Parkinsonism, Constipation, Abnormal autonomic nervous system p...	OMIM:168600
Osteogenesis Imperfecta, Type I	Otosclerosis, Hearing impairment	OMIM:166200
Joubert Syndrome 30	Ptosis, Tachypnea, Apnea	OMIM:617622
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Abnormal helix morphology, Micrognathia, Abnormal antihelix morphology, Cryptorchid...	ORPHA:261337
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Hamamy Syndrome	Low-set ears, Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Mitral regurgi...	OMIM:611174
Jacobsen Syndrome	Low-set ears, Spasticity, Micrognathia, Cryptorchidism, Epicanthus, Holoprosencephaly, Hypospadia...	OMIM:147791
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Small hand, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Blephar...	OMIM:309590
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Posteriorly rotated ears, Conductive hearing impairment	OMIM:617877
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Bradykinesia, Intenti...	OMIM:619725
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ...	OMIM:266810
Hurler Syndrome	Abnormal clavicle morphology, Limitation of joint mobility, Abnormal rib morphology, Camptodactyl...	ORPHA:93473
Ciliary Dyskinesia, Primary, 1	Anosmia, Nasal polyposis, Conductive hearing impairment, Chronic sinusitis, Chronic rhinitis, Abs...	OMIM:244400
Pai Syndrome	Bifid uvula, Depressed nasal bridge, Nasal polyposis, Downslanted palpebral fissures, Midline def...	ORPHA:1993
Alazami Syndrome	Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere...	ORPHA:319671
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal helix morphology, Hearing impairment, Open mouth, Cryptorchidism, High palate, Osteopeni...	ORPHA:453499
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ...	OMIM:232300
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal sternum morphology, Intestinal malrotation, Congenital diaphragmati...	ORPHA:2847
Orofaciodigital Syndrome I	Low-set ears, Carious teeth, Hearing impairment, Ankyloglossia, Ovarian cyst, High palate, Polycy...	OMIM:311200
Menke-Hennekam Syndrome 1	Low-set ears, Hearing impairment, Everted upper lip vermilion, Micrognathia, Cryptorchidism, Chro...	OMIM:618332
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Finger syndactyly,...	ORPHA:2907
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari...	OMIM:608670
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid...	OMIM:619313
Rubinstein-Taybi Syndrome 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Narrow mouth, Cry...	OMIM:180849
Pseudotrisomy 13 Syndrome	Low-set ears, Renal hypoplasia, Renal agenesis, Micropenis, Posteriorly rotated ears	OMIM:264480
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Cardiomegaly, Arrhyt...	OMIM:255120
7Q11.23 Microduplication Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingual frenulum, Congenital...	ORPHA:96121
Vici Syndrome	Optic atrophy, Cardiomyopathy, Depressed nasal tip, Renal tubular acidosis, Death in infancy, Ure...	ORPHA:1493
Dextrocardia	Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Abnormal heart morphology, A...	ORPHA:1666
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyper...	OMIM:617061
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Nasal congestion, Recurrent otitis media, Chronic sinusitis, Absent outer dynein...	OMIM:616037
Holoprosencephaly 7	Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft...	OMIM:610828
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Breast aplas...	ORPHA:238468
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, Wide nasal bridge, High, narrow palate, Bifid uvula, Conductive hearing impairment,...	ORPHA:2780
Pallister-Killian Syndrome	Low-set ears, Aortic valve stenosis, Small hand, Hearing impairment, Supernumerary nipple, Microg...	OMIM:601803
Mucolipidosis Type Iii Alpha/Beta	Recurrent otitis media, Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:423461
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Shock, Lymphopeni...	ORPHA:99826
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Sideroblastic anemia, Sensorineural hearing impairment, Hydronephrosi...	OMIM:598500
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Carious teeth, Widely spaced teeth, Hypoplasia of the capital femoral epi...	OMIM:253010
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Motor stereotypy, Hyperac...	OMIM:617751
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Micrognathia,...	ORPHA:3301
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Cranial nerve paralysis	OMIM:602080
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Gastroesophageal reflux, Central hypoventilation, Apnea, Myoclonus, Rigidity	OMIM:300673
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Dilatation of the renal pelvis, Speech apraxia, Cryptorchidism, Celi...	ORPHA:2044
Perry Syndrome	Central hypoventilation, Hypoventilation, Rigidity, Tremor, Parkinsonism, Bradykinesia	OMIM:168605
Retinitis Pigmentosa	Optic atrophy, Optic disc pallor, Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:791
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Simple ear, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:602471
Developmental And Epileptic Encephalopathy 6B	Chorea, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis	OMIM:619317
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Splenomegaly, Abnormal platelet morpholo...	ORPHA:3318
Trichorhinophalangeal Syndrome Type 2	Low-set, posteriorly rotated ears, Protruding ear, Conductive hearing impairment	ORPHA:502
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Macrogl...	OMIM:105830
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Bradycardia	ORPHA:226313
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Intestinal atresia, Abnormal rib morphology	ORPHA:93941
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Underdeveloped superior crus of antihelix, Enuresis, Hearing impairment, Del...	ORPHA:369950
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Kyphomelic Dysplasia	Limitation of joint mobility, Thoracic hypoplasia, Cleft upper lip, Radial bowing, Short femur, D...	OMIM:211350
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Preaxial polydactyly, Hamartoma of tongue, Congenital diaphragma...	OMIM:616546
Coach Syndrome 2	Hyperechogenic kidneys, Apneic episodes in infancy, Oculomotor apraxia, Hydrocephalus, Hypertension	OMIM:619111
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
D-Glyceric Aciduria	Micropenis, Aminoaciduria, Bradycardia	OMIM:220120
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proxim...	OMIM:260400
Endocrine-Cerebroosteodysplasia	Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa...	OMIM:612651
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Hearing impairment, Pituitary prolactin cell adenoma, Increa...	ORPHA:300385
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepati...	OMIM:614921
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Dubowitz Syndrome	Low-set ears, Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Micrognathia, Cryptor...	OMIM:223370
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Cerebral Creatine Deficiency Syndrome 1	Failure to thrive, Aganglionic megacolon, Attention deficit hyperactivity disorder, Aggressive be...	OMIM:300352
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bradykinesia	OMIM:619911
Neuroferritinopathy	Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Hypomi...	ORPHA:157846
Craniofrontonasal Syndrome	Abnormal rib cage morphology, Abnormality of the dentition, Coronal craniosynostosis, Toe syndact...	OMIM:304110
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Conductive hearing impairment, Urinary ...	ORPHA:90324
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Bradycardia	ORPHA:95716
Hereditary Pheochromocytoma-Paraganglioma	Conductive hearing impairment, Cranial nerve compression, Adrenal pheochromocytoma, Paroxysmal ve...	ORPHA:29072
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Depressed nasal ridge, Tooth agenesis, Bilateral cleft palate, Ataxia, Meningocele, Absent nasal ...	ORPHA:2003
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to...	OMIM:606324
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Spasticity, Micrognathia, Cryptorchidism, Sensorineural hearing im...	OMIM:305450
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Infantile Neuroaxonal Dystrophy	Optic atrophy, Spasticity, Spastic tetraparesis, Abnormality of peripheral nerve conduction, Apne...	ORPHA:35069
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Cleft lip, Meckel diverticulum, Intestinal malrotation, Dia...	OMIM:265380
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Gastroesophageal reflux, Everted upper lip vermilion, Hyperplasia of the ...	ORPHA:513456
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment	OMIM:126550
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Hartsfield Syndrome	Low-set ears, Hypospadias, Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar ho...	OMIM:615465
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Bronchopulmonary Dysplasia	Right ventricular failure, Respiratory distress, Diaphragmatic paralysis, Central apnea, Dyspnea,...	ORPHA:70589
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Abnormal tibia morphology, Congeni...	ORPHA:1335
Double Outlet Right Ventricle	Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Narrow mouth, H...	ORPHA:3426
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Nocturi...	OMIM:612953
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Thin ribs, Congenital contracture, Thoracic hypoplasia, Long philtrum, Decre...	OMIM:208150
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Death in childhood, Hypoplasia of the thymus	OMIM:200900
Xia-Gibbs Syndrome	Low-set ears, Depressed nasal bridge, Downslanted palpebral fissures, Micrognathia, Upslanted pal...	OMIM:615829
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Spasticity, Decreased muscle mass, Acanthocytosis, Myopathy, Rigidi...	OMIM:234200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo...	OMIM:614376
Primary Ciliary Dyskinesia	Nasal polyposis, Conductive hearing impairment, Hearing impairment, Polysplenia, Nasal congestion...	ORPHA:244
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms,...	OMIM:614935
Deafness-Craniofacial Syndrome	Wide nasal bridge, Abnormality of the dentition, Underdeveloped nasal alae, Short lingual frenulu...	ORPHA:3241
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Ectopic kidney, Renal agenesis	OMIM:212780
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Abnormality of the ureter, Joint stiffne...	ORPHA:3027
Schisis Association	Unilateral cleft lip, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Anal atresia, C...	ORPHA:63862
Metaphyseal Chondrodysplasia, Jansen Type	Choanal atresia, Nephrocalcinosis, Tooth malposition, Hearing impairment, Micrognathia, Hyperphos...	OMIM:156400
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, High palate, Joint hypermobility	ORPHA:456328
Renpenning Syndrome 1	Joint contracture of the hand, Spasticity, Hearing impairment, Micrognathia, Narrow mouth, Death ...	OMIM:309500
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno...	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome, Car...	OMIM:617713
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Hydrolethalus	Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Low-se...	ORPHA:2189
Hartnup Disorder	Glossitis	OMIM:234500
Central Hypoventilation Syndrome, Congenital, 3	Central hypoventilation, Apnea, Chronic constipation, Episodic hypertension, Episodic vomiting	OMIM:619483
Spinocerebellar Ataxia Type 8	Spasticity, Limb ataxia, Gait ataxia, Rigidity, Ataxia, Urinary incontinence, Bradykinesia, Spast...	ORPHA:98760
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Distal Deletion 6P	Low-set ears, Depressed nasal bridge, Abnormality of the dentition, Hearing impairment, Underdeve...	ORPHA:96125
Congenital Disorder Of Glycosylation, Type Iit	Low-set ears, Posteriorly rotated ears, Conductive hearing impairment	OMIM:618885
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Depressed nasal ridge, Ectopic anterior pituitary gland, Decreased r...	ORPHA:90695
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Apnea, Opisthotonus, Letharg...	OMIM:210200
Ramos-Arroyo Syndrome	Abnormal midface morphology, Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Lo...	ORPHA:1051
Hajdu-Cheney Syndrome	Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Absent frontal sinuses, Epicanthus, Hig...	OMIM:102500
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Developmental And Epileptic Encephalopathy 99	Eyelid myoclonus, Central apnea	OMIM:619606
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Neonatal death, Short foot, Short toe, Hamartoma of tongue, Me...	OMIM:269860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatosplenomegaly, Micrognathia, Narrow mouth, Cryptorchidism, Large placenta, Short neck, Wide ...	ORPHA:96334
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Micrognathia, Short n...	ORPHA:96149
Rett Syndrome, Congenital Variant	Bruxism, Chorea, Protruding ear, Tongue thrusting, Dystonia, Athetosis, Motor stereotypy	OMIM:613454
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Proximal 16P11.2 Microduplication Syndrome	Thin upper lip vermilion, Smooth philtrum, Congenital diaphragmatic hernia, Arachnodactyly	ORPHA:370079
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Joint dislocation, Thoracic hypoplasia, Femora...	OMIM:618019
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Say-Barber-Miller Syndrome	Tooth malposition, Carious teeth, Spastic paraparesis, Micrognathia, Cryptorchidism, Impaired neu...	ORPHA:3132
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Gerstmann-Straussler Disease	Spasticity, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Pa...	OMIM:137440
Isolated Anencephaly	Cleft lip, Congenital diaphragmatic hernia	ORPHA:563609
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Lip pit, Fibrous syngnathia, Finger syndactyly, Popliteal pterygium, Joint stiffn...	ORPHA:1300
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin...	ORPHA:449291
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Wide nasal bridge, Conical tooth, Sparse eyebrow, Conductive hearing impairment, Delayed eruption...	ORPHA:1071
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Microphallus, Gait ataxia, Self-mutilation, Hyperactivity, Micropenis, Motor stereotypy, Macrotia	OMIM:300486
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Hypoplasia of the premaxilla, Umbilical hernia, Low-set, posteriorly rotated ears, I...	ORPHA:2166
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Optic atrophy, Spastic paraparesis, Lower limb muscle weakness, Apnea, Hemiparesi...	ORPHA:395
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy, Skeletal muscle atrophy	OMIM:614153
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han...	OMIM:277170
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Polycythemia, Tremor, Rigidity, Abnormality of extrapyramidal motor function...	OMIM:613280
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Pagod Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphol...	ORPHA:991
Nijmegen Breakage Syndrome	Diarrhea, Recurrent otitis media, Micrognathia, Epicanthus, Long nose, Anal atresia, Macrotia, Ch...	OMIM:251260
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,...	ORPHA:500159
Cerebellar-Facial-Dental Syndrome	Low-set ears, Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Sparse eyebr...	ORPHA:444072
Primrose Syndrome	Hearing impairment, Genu valgum, Narrow mouth, Cryptorchidism, Hip contracture, Torus palatinus, ...	OMIM:259050
Scalp-Ear-Nipple Syndrome	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Cupped ear, Underdeveloped tragus, Pye...	OMIM:181270
Trisomy 18	Choanal atresia, Narrow palate, Microretrognathia, Delayed skeletal maturation, Camptodactyly of ...	ORPHA:3380
Crane-Heise Syndrome	Depressed nasal bridge, Hypoplastic scapulae, Aplastic clavicle, Short distal phalanx of finger, ...	ORPHA:1512
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadenopathy, Myocarditis,...	ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Vomiting, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart fa...	OMIM:620646
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele...	ORPHA:79404
Leprechaunism	Clitoral hypertrophy, Long penis, Nephrocalcinosis, Overgrowth of external genitalia, Hypertrophi...	ORPHA:508
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos...	OMIM:613808
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Hypocalcemia	OMIM:618476
Yellow Fever	Neutrophilia, Acute kidney injury, Pancreatic hyperplasia, Anuria, Shock, Reduced left ventricula...	ORPHA:99829
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Nestor-Guillermo Progeria Syndrome	Thin ribs, Dental crowding, Dental malocclusion, Pathologic fracture, Joint stiffness, Mandibular...	OMIM:614008
Arterial Tortuosity Syndrome	Bifid uvula, Long philtrum, Umbilical hernia, Micrognathia, Congenital diaphragmatic hernia, Mala...	OMIM:208050
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi...	OMIM:300280
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Torticollis, Apla...	OMIM:609945
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Distal Deletion 3P	Spasticity, Hearing impairment, Downturned corners of mouth, Long philtrum, Low-set, posteriorly ...	ORPHA:1620
Silver-Russell Syndrome 1	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Retinal telangiectasia, Esophageal varix,...	ORPHA:774
15q26 overgrowth syndrome	Low-set ears, Wide nasal bridge, Mandibular prognathia, Duplication of renal pelvis, Long philtru...	DECIPHER:81
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
Pontocerebellar Hypoplasia Type 7	Wide nasal bridge, Depressed nasal bridge, Optic atrophy, Spasticity, Skeletal muscle atrophy, In...	ORPHA:284339
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated...	ORPHA:36234
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Head-banging, Recurrent urinary tract infections, Horseshoe kidney, Frequent temper...	OMIM:619103
Waardenburg Syndrome	Aganglionic megacolon, Conductive hearing impairment, Hearing impairment	ORPHA:3440
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia, Pancreatitis	OMIM:145980
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Garg-Mishra Progeroid Syndrome	Thin ribs, Narrow chest, Dental crowding, Slender long bone, Persistent open anterior fontanelle,...	OMIM:620601
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Apnea, Lethargy, Dyspnea, Hyperventilation, Tachycardia	OMIM:229700
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Conductive hearing impairment, Atresia of the exte...	ORPHA:1393
Fryns Syndrome	Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Cryptorchidism, Blepharop...	OMIM:229850
Osteogenesis Imperfecta, Type Viii	Thin ribs, Dentinogenesis imperfecta, Osteopenia, Radial bowing, Slender long bone, Femoral bowin...	OMIM:610915
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, Blephar...	OMIM:616975
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Micrognathia, Narrow mouth, Sensorineural hearing impairment, Elliptocytosis, Renal dysplasia, Do...	OMIM:300990
19P13.12 Microdeletion Syndrome	Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing imp...	ORPHA:254346
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microglossia, Short tibia, Sandal gap, Short thumb, Radial club hand, Narrow mo...	ORPHA:1972
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg...	ORPHA:91138
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Tooth malposition, Narrow palate, Delayed skel...	OMIM:608328
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Abnormal rib morphology	ORPHA:2234
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Primary Progressive Freezing Gait	Frequent falls, Postural tremor, Rigidity, Hypertension, Babinski sign, Clonus, Urinary incontine...	ORPHA:75567
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Highly arched eyebrow, Hearing impairment, Anteverted nares, Cleft soft palate...	ORPHA:2282
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Decreased body weight, Proteinuria, Paroxysmal bursts of laug...	OMIM:618347
Distal Deletion 19P	Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:96129
Scarf Syndrome	Pectus carinatum, Long philtrum, Diastasis recti, Joint hypermobility, Short sternum, Enamel hypo...	ORPHA:3134
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Failure to thrive, Recurre...	OMIM:620494
White-Sutton Syndrome	Depressed nasal bridge, Abnormality of the outer ear, Broad nasal tip, Midface retrusion, Downtur...	ORPHA:468678
Craniofacioskeletal Syndrome	Choanal atresia, Hypospadias, Small hand, Short palpebral fissure, Downslanted palpebral fissures...	OMIM:300712
Proteus-Like Syndrome	Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Anteverted ...	ORPHA:2969
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Bell-shaped thorax, Anterior rib cupping, Broad phalanx, High palate, Short met...	OMIM:271665
Mucopolysaccharidosis, Type Vii	Thoracolumbar kyphosis, Pectus carinatum, Limitation of joint mobility, Widely spaced teeth, Join...	OMIM:253220
Feingold Syndrome 1	Low-set ears, Hearing impairment, Micrognathia, Epicanthus, Everted lower lip vermilion, Blepharo...	OMIM:164280
Meckel Syndrome, Type 1	Low-set ears, Natal tooth, Occipital encephalocele, Abnormality of the ureter, Micrognathia, Cryp...	OMIM:249000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Failure to thrive, Recurrent otitis media, Bruxism, Unilateral ...	OMIM:619950
Isolated Exencephaly	Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton mo...	ORPHA:563612
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Bartsocas-Papas Syndrome 1	Low-set ears, Micrognathia, Short neck, Anal atresia, Ectopic kidney, Short nose, Hypoplasia of t...	OMIM:263650
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Optic atrophy, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circ...	ORPHA:2785
Pseudoaminopterin Syndrome	Hypoplasia of the antihelix, Synostosis of carpal bones, Micrognathia, Cryptorchidism, Mild condu...	ORPHA:221120
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Spasticity, Micrognathia, Cryptorchidism, Abnormality of the kidney, Aplasia/hypopl...	ORPHA:2636
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Azoospermia, Hepatosplenomegaly, Facial telangie...	OMIM:602782
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Congenital Myopathy 11	Apneic episodes in infancy, Weakness of facial musculature	OMIM:619967
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Rett Syndrome	Skeletal muscle atrophy, Abnormal pattern of respiration, Increased serum leptin, Abnormal autono...	ORPHA:778
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Xerostomia, Skeletal muscle atrophy, Lower limb muscle weakn...	ORPHA:803
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, C...	OMIM:616462
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms,...	OMIM:615444
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Low-set ears, Tented philtrum, Micrognathia, Cryptorchidism, Hypospadias, Slurred speech, Sparse ...	ORPHA:495875
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Micrognathia, Thick vermilion ...	OMIM:618651
Kniest Dysplasia	Recurrent otitis media, Conductive hearing impairment	OMIM:156550
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Type I diabetes mellitus, Duplication of renal pelvis, Delayed erup...	ORPHA:2036
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, Lymphadenopathy, ...	ORPHA:507
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Mend Syndrome	Low-set ears, Aortic valve stenosis, Microretrognathia, Bulbous nose, Crossed fused renal ectopia...	OMIM:300960
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Skeletal muscle atrophy, Death in childhood, Hand muscle atrophy, Ankle cl...	OMIM:211530
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Restrictive Dermopathy 1	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Absent eyelashes, Neonat...	OMIM:275210
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Triangular nasal tip, Micrognathia, Open mouth, Cryptorchidism, Protruding tongue, ...	OMIM:309580
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hearing impairment, Displacement of the urethral meatus, Esophageal...	ORPHA:1775
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Abnormal retinal morphology	ORPHA:89844
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenom...	OMIM:618495
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ...	ORPHA:275864
Ciliary Dyskinesia, Primary, 5	Recurrent otitis media, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:608647
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy	OMIM:616881
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Tolchin-Le Caignec Syndrome	Low-set ears, Abnormal vestibular function, Wide nasal bridge, Precocious puberty, Short palpebra...	OMIM:618971
Familial Osteodysplasia, Anderson Type	Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Bifi...	ORPHA:2769
Alkaptonuria	Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D...	OMIM:203500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pectus carinatum, Narrow chest, Microglossia, Polysyndactyly of hallux, Postaxial polysyndactyly ...	OMIM:263520
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Head tremor, Proteinuria, Motor stereotypy, Glomerular sclerosis, Glomerulonephritis, Ataxia, Nep...	OMIM:619428
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Distal Deletion 15Q	Low-set ears, Abnormality of the dentition, Multicystic kidney dysplasia, Broad nasal tip, Hip di...	ORPHA:1596
Choreoacanthocytosis	Temporomandibular joint crepitus, Resting tremor, Muscle fiber atrophy, Acanthocytosis, Protrudin...	ORPHA:2388
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Micrognathia, Perine...	ORPHA:2753
Maternal Phenylketonuria	Hypoplastic helices, Wide nasal bridge, Long philtrum, Bilateral ptosis, Anteverted nares, Microg...	ORPHA:2209
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy, Skeletal muscle atrophy	ORPHA:276198
Down Syndrome	Atlantoaxial dislocation, Type II diabetes mellitus, Narrow mouth, Acute megakaryocytic leukemia,...	ORPHA:870
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Anosmia, Cryptorchidism, Sensorineural hearing impairment, Hypogonadotropi...	OMIM:612702
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Laryngotracheal Angioma	Respiratory distress, Apnea, Vomiting, Intercostal retractions	ORPHA:137935
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Ragged-red muscle fibers, Babinski sign, Ptosis, Bradykinesia, Cleft palate	OMIM:614924
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl...	OMIM:619151
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Knee flexion contracture, Hip contracture, Hypoplasia of the nasal bone, Sc...	OMIM:118650
Pyruvate Dehydrogenase E2 Deficiency	Generalized dystonia, Paroxysmal dystonia, Jerky head movements, Ataxia, Dystonia, Choreoathetosis	OMIM:245348
Kabuki Syndrome 1	Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent otitis media, Micrognathia, Cryp...	OMIM:147920
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Low-set ears, Depressed nasal bridge, Broad nasal tip, Hydroureter, Hypoplasia of the bladder, Va...	OMIM:300707
Microphthalmia, Lenz Type	Abnormality of the dentition, Ankyloblepharon, Hydroureter, Hearing impairment, Delayed eruption ...	ORPHA:568
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hor...	OMIM:617925
Coffin-Siris Syndrome 12	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Chronic constipation, S...	OMIM:619325
Gm1 Gangliosidosis Type 1	Pectus carinatum, Long philtrum, Gingival overgrowth, Broad long bone diaphyses, Acetabular dyspl...	ORPHA:79255
Gaucher Disease, Type Ii	Spasticity, Gastroesophageal reflux, Apnea, Splenomegaly, Death in infancy, Rigidity, Oculomotor ...	OMIM:230900
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Rothmund-Thomson Syndrome, Type 2	Small hand, Micrognathia, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Epicanthus, Telangi...	OMIM:268400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Uterus didelphys, Abnormal heart morphology, Septate vagina, Renal ins...	ORPHA:2237
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Low-set ears, Impaired pain sensation, Gait ataxia, Overfriendliness, Motor stereotypy	OMIM:616579
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy, Hearing impairment	OMIM:616351
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Microcytic anemia, Protruding tongue, Neutrophilia, Depressed nasal ridge...	ORPHA:99843
Focal Dermal Hypoplasia	Low-set ears, Abnormality of the dentition, Multicystic kidney dysplasia, Hearing impairment, Cam...	ORPHA:2092
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Retinal hemorrhage, Oral ulcer, Localized p...	OMIM:608710
Alagille Syndrome 1	Low-set ears, Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple s...	OMIM:118450
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Micrognathia, Ovarian cyst, Hemiparesis, Blepharophimosis, ...	OMIM:188400
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Narrow mouth, Metopic synostosis, Polydactyly, Joint hy...	ORPHA:77301
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Low-set ears, Cupped ear, Optic disc coloboma, Sensorineural hearing impairment, Mixed hearing im...	OMIM:300472
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Motor stereotypy, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition	OMIM:612069
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bifid nasal tip, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilio...	OMIM:618874
Aymé-Gripp Syndrome	Low-set ears, Limitation of joint mobility, Delayed cranial suture closure, Narrow mouth, Congeni...	ORPHA:1272
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia, Pancreatitis	OMIM:145981
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Illum Syndrome	Bradycardia	OMIM:208155
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Hypercalcemia, Chronic noninfectious lymphadenopathy, Pancreatic islet ce...	ORPHA:97289
Manganese Poisoning	Postural tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hypertonia, Bra...	ORPHA:306682
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Bell-shaped thorax, Diastasis rec...	ORPHA:254519
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Optic atrophy, Progressive sensorineural hearing imp...	ORPHA:191
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Micrognathia, Aplasia/Hypoplasia of the thumb, Ep...	ORPHA:96176
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia	OMIM:618732
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Micrognathia, Epicanthus, ...	OMIM:266920
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di...	OMIM:620141
9q subtelomeric deletion syndrome	Anteverted nares, Midface retrusion, Protruding tongue, Short nose	DECIPHER:52
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Poor fine motor coordination, Polycythemia, Hypertrophic cardiomyopathy, Por...	ORPHA:309854
Saethre-Chotzen Syndrome	Low-set ears, Lambdoidal craniosynostosis, Hypoplasia of the maxilla, Coronal craniosynostosis, H...	OMIM:101400
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Smith-Lemli-Opitz Syndrome	Low-set ears, Hypospadias, Renal hypoplasia, Unilateral renal agenesis, Renal agenesis, Hearing i...	OMIM:270400
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Abnormality of the ocular adnexa, Sialadenitis, Hashimo...	ORPHA:64744
Blomstrand Lethal Chondrodysplasia	Low-set ears, Depressed nasal bridge, Synostosis of joints, Platyspondyly, Natal tooth, Long phil...	ORPHA:50945
Stickler Syndrome, Type I	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:108300
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Pectus carinatum, Carious teeth, Hypoplastic acetabulae, Delayed eruption o...	OMIM:253200
Ring Chromosome 22 Syndrome	Wide nasal base, Midface retrusion, Bulbous nose, Protruding tongue, Full cheeks, Thick vermilion...	ORPHA:1446
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Rickets, Osteomalacia, Abnormal tibia morphology, Abnormal morpholo...	ORPHA:249
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Absent nipple...	OMIM:305100
Faundes-Banka Syndrome	Low-set ears, Long ear, Micrognathia, Cryptorchidism, Chronic constipation, Epicanthus, Dysphagia...	OMIM:619376
Fontaine Progeroid Syndrome	Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Protruding tongue, Neonatal death, Ever...	OMIM:612289
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Bradycardia	ORPHA:565624
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hepatic calcification, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Kleefstra Syndrome Due To 9Q34 Microdeletion	Midface retrusion, Hearing impairment, Downturned corners of mouth, Anteverted nares, Renal insuf...	ORPHA:96147
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Absent thumb, Downturned corners of mouth, Slender long bone, Cervical ribs, Submuco...	ORPHA:500150
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Leukocytosis, Autoimmune hem...	OMIM:243150
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Sens...	ORPHA:818
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Abnormal dense granule content, Pet...	OMIM:601399
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment	OMIM:620012
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Spleno...	ORPHA:565612
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Joint contracture of the hand, Proximal muscle weakness ...	ORPHA:466768
Ogden Syndrome	Low-set ears, Abnormal head movements, Macrotia, Torticollis	ORPHA:276432
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Short nose, Choanal atresia, Midface retrusion, Downturned corne...	OMIM:301044
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Depressed nasal bridge, Galactosuria, Small hand, Mandibular prognathia, Organic a...	ORPHA:85276
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Conductive hearing impairment, Abnormal pinna morphology	ORPHA:1297
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Kufor-Rakeb Syndrome	Blepharospasm, Leg muscle stiffness, Myoclonus, Upper motor neuron dysfunction, Rigidity, Babinsk...	ORPHA:306674
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Small hand, Rocker bottom foot, Downturned corners of mouth, Clinodactyly, Anky...	ORPHA:488642
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven...	OMIM:615616
Gabriele-De Vries Syndrome	Low-set ears, Oral-pharyngeal dysphagia, Micrognathia, Cryptorchidism, High palate, Sparse eyebro...	ORPHA:506358
Chromosome 18Q Deletion Syndrome	Optic atrophy, Conductive hearing impairment, Atresia of the external auditory canal, Hearing imp...	OMIM:601808
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hyper...	OMIM:610217
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Motor stereotypy, Renal tubular acidosis	ORPHA:79155
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate...	ORPHA:124
Blau Syndrome	Nephropathy, Dyspnea, Xerostomia, Camptodactyly of finger, Large vessel vasculitis, Stage 5 chron...	ORPHA:90340
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Iniencephaly	Low-set ears, Spinal dysraphism, Absent vertebra, Myelomeningocele, Narrow mouth, Congenital diap...	ORPHA:63259
Hennekam-Beemer Syndrome	Optic atrophy, Conductive hearing impairment, Hearing impairment, Microtia	ORPHA:2135
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Hypopl...	ORPHA:228402
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Increased circulating prolactin concentration, Cryptorchidism, Abnormality of the anterior pituit...	ORPHA:438213
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventri...	ORPHA:308552
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low-set ears, Depressed nasal bridge, Tracheomalacia, Anteverted nares, Gingival overgrowth, Vesi...	OMIM:618797
Cranioectodermal Dysplasia 2	Low-set ears, Micrognathia, Sparse eyelashes, Epicanthus, Everted lower lip vermilion, Blepharoph...	OMIM:613610
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of the femoral h...	OMIM:619127
Degcags Syndrome	Low-set ears, Hypospadias, Renal hypoplasia, Chronic kidney disease, Hearing impairment, Bilatera...	OMIM:619488
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Enuresis, Recurrent urinary tract infections, Overfriendliness, Motor stereotypy, P...	OMIM:619293
Lipoid Proteinosis	Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Abnorm...	ORPHA:530
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Cardiomyopathy, Abnormalit...	ORPHA:2842
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis, Facial palsy	ORPHA:2483
Snijders Blok-Campeau Syndrome	Low-set ears, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618205
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Splenomegaly, Ventricula...	OMIM:615630
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Apnea, Renal steatosis, Ketonuria	OMIM:261680
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Narrow chest, Osteopenia, Long philtrum, Crumpled long bones, Delayed ...	OMIM:610682
Ritscher-Schinzel Syndrome 2	Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, Protruding tongue, Short philtru...	OMIM:300963
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp...	OMIM:616028
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Apnea, Myoclonus, Joint contracture, Spastic tetraplegia	OMIM:614462
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Ureterocele, Decreased nerve conduction velocity, Adrenal insufficiency, Sensorine...	OMIM:614863
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Low-set ears, Overfolded helix, Mixed hearing impairment, Thickened helices	OMIM:608624
Thrombocytopenia 6	Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Micrognathia, Abnormal antihelix morphology, Cryptorchidism, Abnormal nasolacrimal ...	ORPHA:3047
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Camptodacty...	ORPHA:2908
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia	OMIM:239200
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Cantú Syndrome	Short distal phalanx of finger, Narrow chest, Finger syndactyly, Long philtrum, Broad ribs, Abnor...	ORPHA:1517
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani...	ORPHA:85212
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Motor stereotypy	ORPHA:208447
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Abnormal rib morphology, Broad ribs, Short ribs, Postaxial hand poly...	ORPHA:2519
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Intellectual Developmental Disorder, Autosomal Dominant 38	Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor ...	OMIM:616393
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia	OMIM:616812
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Wide mouth, Micrognathia, Tel...	ORPHA:1974
Sotos Syndrome	Low-set ears, Conductive hearing impairment, Otitis media, Posteriorly rotated ears, Macrotia	OMIM:117550
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79444
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Choanal atresia, Branchial fistula, Underdeveloped nasal alae, Camptodactyly...	ORPHA:261330
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Micrognathia, Death...	OMIM:619036
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thick lower lip vermilion, Elbow flexion contracture, Joint stiffness, Thic...	OMIM:252940
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Depressed nasal ridge, Ectopic anterior...	ORPHA:95494
Transketolase Deficiency	Increased level of ribose in urine, Self-injurious behavior, Hearing impairment, Renal cyst, Atte...	ORPHA:488618
Kleefstra Syndrome	Self-injurious behavior, Hearing impairment, Obesity, Renal insufficiency, Vesicoureteral reflux,...	ORPHA:261494
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia, Dysphagia, Urinary urgency	OMIM:168601
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Depressed nasal bridge, Ectopic anterior pituitary gland, Anteverted nares, Choanal stenosis, Pac...	OMIM:620558
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Low-set ears, Retrognathia, Micrognathia, Narrow mouth, Protruding ear, Narrow palpebral fissure,...	OMIM:301091
Weill-Marchesani Syndrome 1	Tooth malposition, Depressed nasal bridge, Hypoplasia of the maxilla, Spinal canal stenosis, Abno...	OMIM:277600
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Polysplenia...	OMIM:312870
Huntington Disease-Like 3	Abnormal head movements, Chorea, Progressive gait ataxia, Urinary incontinence, Dystonia	ORPHA:157946
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Small hand, Lymphopenia, Micrognathia, Cryptorchidism, Blepharophimosis, Depressed ...	OMIM:620005
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced...	ORPHA:980
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination	ORPHA:397612
Bazex-Dupre-Christol Syndrome	Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Narrow nasal ridge, Low hanging ...	OMIM:301845
Hallermann-Streiff Syndrome	High, narrow palate, Choanal atresia, Abnormality of the dentition, Natal tooth, Tracheomalacia, ...	ORPHA:2108
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Angioid streaks of the fundus, Calcinosis	OMIM:211900
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, F...	ORPHA:49
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Cardiomegaly...	ORPHA:268
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	High, narrow palate, Duplication of renal pelvis, Long philtrum, Hand tremor, Thick eyebrow, Hypo...	ORPHA:457212
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Hereditary Folate Malabsorption	Glossitis, Cheilitis, Skeletal muscle atrophy	ORPHA:90045
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, Brachydactyly, A...	ORPHA:2347
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Hematuria, Tubulointerstitial nephritis, Purpura, Dysphagia, Vasculitis, ...	ORPHA:183
Joubert Syndrome 5	Nephronophthisis, Occipital encephalocele, Episodic tachypnea, Stage 5 chronic kidney disease, Re...	OMIM:610188
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Scrub Typhus	Hypotension, Renal insufficiency, Splenomegaly, Lymphadenopathy, Myocarditis	ORPHA:83317
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Oliguria, Cardiomyopathy, Dicarboxylic aciduria, Rhabdomyolysis, Arrhythmia, Ventric...	ORPHA:159
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst	OMIM:614091
Serkal Syndrome	Malrotation of small bowel, Orofacial cleft, Congenital diaphragmatic hernia	ORPHA:139466
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Tick-Borne Encephalitis	Tongue fasciculations, Hearing impairment, Incoordination, Speech apraxia, Abnormal cranial nerve...	ORPHA:297
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Cryptorchidism,...	OMIM:615873
Peters-Plus Syndrome	Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited e...	OMIM:261540
ERI1-related disease	Low-set ears, Conductive hearing impairment, Macrotia	OMIM:608739
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Kapur-Toriello Syndrome	Low-set ears, Conductive hearing impairment	OMIM:244300
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Fraser Syndrome	Abnormality of the outer ear, Atresia of the external auditory canal, Cryptorchidism, Encephaloce...	ORPHA:2052
Peutz-Jeghers Syndrome	Nasal polyposis, Intestinal bleeding, Bladder polyp, Abnormality of the ureter, Labial melanotic ...	OMIM:175200
Seckel Syndrome 9	Protruding ear, Micrognathia, Congenital diaphragmatic hernia, Convex nasal ridge	OMIM:616777
Non-Syndromic Posterior Hypospadias	Anal atresia, Esophageal atresia, Congenital diaphragmatic hernia, Cleft palate	ORPHA:95706
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Vasculitis in the skin	OMIM:620296
Ring Chromosome 21 Syndrome	Diabetes insipidus, Thoracic hemivertebrae, Fused thoracic vertebrae, Holoprosencephaly, Scoliosis	ORPHA:1445
Meckel Syndrome	Accessory spleen, Depressed nasal ridge, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the ...	ORPHA:564
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Gastrointestinal arteriovenous ...	OMIM:600376
Mungan Syndrome	Renal hypoplasia, Abnormality of the autonomic nervous system, Vesicoureteral reflux	OMIM:611376
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, EEG abnorma...	ORPHA:206448
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Narrow mouth, Humeroradial syno...	ORPHA:95699
Hypoadrenocorticism, Familial	Apnea, Adrenal insufficiency, Vomiting, Adrenal hypoplasia	OMIM:240200
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, Self-injurious behavior, Head-banging, Failure to thrive, Recurrent otitis media, F...	OMIM:619575
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, Nasal polyposis, Downslanted palpebral fissures, Median cleft upper lip, High palate	OMIM:155145
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Thin upp...	OMIM:174300
Fructose-1,6-Bisphosphatase Deficiency	Vomiting, Diarrhea, Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Intermi...	ORPHA:348
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Obesity, Tremor, Decreased body weight, Stereotypical hand wr...	OMIM:619229
Foxg1 Syndrome Due To 14Q12 Microdeletion	Protruding ear, Motor stereotypy, Abnormal antihelix morphology	ORPHA:261144
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment, Optic disc pallor	ORPHA:309288
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Radio-Renal Syndrome	High, narrow palate, Depressed nasal bridge, Multicystic kidney dysplasia, Downturned corners of ...	ORPHA:3015
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Horizontal inferior border of sca...	OMIM:250220
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperac...	OMIM:617600
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Witteveen-Kolk Syndrome	Flared nostrils, Hearing impairment, Hyperplasia of the maxilla, Male urethral meatus stenosis, G...	OMIM:613406
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De...	ORPHA:206436
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Tented upper lip vermilion, Congenital diaphragmatic hernia, Long fingers, Thin ...	OMIM:614294
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u...	OMIM:158330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle...	ORPHA:79644
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto...	OMIM:185000
Hennekam Syndrome	Lymphopenia, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma	ORPHA:2136
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u...	OMIM:137920
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Hearing impairment, Aplasia/Hypoplasia of the uvula, Micrognathia,...	ORPHA:84
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypopl...	OMIM:135900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177901
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Opisthotonus, Abnormal nasopharynx morphology, Splenopancreatic fusion, Hypospadias...	OMIM:269150
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Waisman Syndrome	Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t...	OMIM:311510
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Portal hypertensio...	ORPHA:77259
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycysti...	ORPHA:2348
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Alpha-Mannosidosis, Infantile Form	Pectus carinatum, Osteopenia, Cranial hyperostosis, Widely spaced teeth, Talipes valgus, Joint st...	ORPHA:309282
Insulin-Resistance Syndrome Type B	Nephritis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fastin...	ORPHA:2298
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Chikungunya	Gingival bleeding, Epistaxis, Vomiting, Diarrhea, Abnormal bleeding, Cervical lymphadenopathy, Pe...	ORPHA:324625
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98754
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Cranium bifidum occultum, Midface retrusion, Underde...	OMIM:229400
Sheehan Syndrome	Palpitations, Hyposthenuria, Orthostatic hypotension, Bradycardia, Normochromic anemia	ORPHA:91355
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Distal amyotrophy, Facial paralysis, Foot ...	ORPHA:99949
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria	OMIM:619053
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Rectal prolapse, Convex nasal ridge	OMIM:619793
Diets-Jongmans Syndrome	Broad nasal tip, Hearing impairment, Umbilical hernia, Long ear, Wide mouth, Congenital diaphragm...	OMIM:618846
Thrombocytopenia 10	Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou...	OMIM:620484
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Ileal atresia, Streak ovary, Micrognathia, Cryptorchi...	OMIM:618820
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Prominent antihelix, Failure to thrive, Inappropriate laughter, Motor stereotypy, Macrotia	OMIM:615802
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Small hand, Apnea, Abnormal autonomic nervous system physiology, Hyperventilation, Short foot	OMIM:617903
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Congestive...	OMIM:615895
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal...	ORPHA:322
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:98793
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Open mouth, Protruding ton...	ORPHA:258
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Genera...	OMIM:181000
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Phelan-Mcdermid Syndrome	Hearing impairment, Impaired pain sensation, Bruxism, Vesicoureteral reflux, Protruding ear, Moto...	OMIM:606232
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Genu valgum, Intestinal obstruction, Decreas...	ORPHA:666
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi...	ORPHA:177904
Immunodeficiency 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:615816
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Neurogenic bladder, Dysphagia, Ataxia, Urinary incontinence, Dystonia, Motor stere...	ORPHA:496641
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Short hallux, Small thenar...	OMIM:268305
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Thickened ribs, Everted lower lip vermilion, Dense calvaria	OMIM:252930
Hyperekplexia 1	Apnea, Myoclonus, Hypertonia, Exaggerated startle response, Frequent falls	OMIM:149400
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Cardiomegaly, Hypertensi...	OMIM:208000
Chromosome 13Q14 Deletion Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Bulbous nose, Micrognathia, Cryptorchidis...	OMIM:613884
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness...	ORPHA:199351
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv...	OMIM:618825
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Abnormal epiphysis morphology, Metaphyseal spurs, Flared metap...	ORPHA:85167
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Proximal Spinal Muscular Atrophy	Atrial septal defect, Bradycardia	ORPHA:70
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly, Atrial fibril...	OMIM:300842
Thrombocytopenia 1	Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo...	OMIM:313900
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Smooth tongue, Micromelia, Camptodactyly of finger, Elbow flexion c...	ORPHA:3206
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car...	ORPHA:391428
Felty Syndrome	Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Atresia of the external auditory canal, Elbow dislocation, Microgna...	ORPHA:199
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Cryptorchi...	ORPHA:3310
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Peters Plus Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Anal atresi...	ORPHA:709
Thrombocytopenia 3	Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia	OMIM:273900
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Wide nasal bridge, Cupped ear, Umbilical hernia, Anteverted nares, Micrognathia, Pr...	OMIM:617062
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, An...	ORPHA:829
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Narrow chest, Long philtrum, Pelvic bone exostoses, Persistent...	OMIM:304150
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Difficulty in t...	ORPHA:99956
Larsen Syndrome	Conductive hearing impairment	ORPHA:503
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79443
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Ketonuria, Inflexible adherence to routines	OMIM:608049
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Joint stiffness, Femor...	OMIM:608940
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attenti...	OMIM:300986
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, 3-Methylglutaconic aciduria, Increased hepatic glycogen...	OMIM:619259
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors, Motor stereotypy, Macrotia	OMIM:615656
Myotonia Fluctuans	Spasticity of facial muscles, Apnea	ORPHA:99734
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Brittle Cornea Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:90354
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Familial Mediterranean Fever	Nephropathy, Vasculitis, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Orchitis, Protein...	ORPHA:342
Q Fever	Vasculitis, Granuloma, Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormalit...	ORPHA:781
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur...	OMIM:613426
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Death in infancy, Neonatal death, Tachypnea, Pulmonary arterial hypertension, Dyspnea	OMIM:265120
Lumbar Syndrome	Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas...	ORPHA:83628
Velocardiofacial Syndrome	Hypocalcemia, Retinal vascular tortuosity	OMIM:192430
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycysti...	ORPHA:79083
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right...	ORPHA:3427
Otopalatodigital Syndrome, Type I	Conductive hearing impairment	OMIM:311300
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodact...	ORPHA:2879
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor...	OMIM:252600
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Anemia, Retinal calcification, Hypocalcemic ...	ORPHA:93325
Telangiectasia, Hereditary Hemorrhagic, Type 4	Dyspnea, Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, ...	OMIM:610655
Immunodeficiency 10	Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyt...	OMIM:612783
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Congestive heart failure, Abnormal hea...	OMIM:230500
Myotonia, Potassium-Aggravated	Apneic episodes in infancy, Skeletal muscle atrophy, Skeletal muscle hypertrophy	OMIM:608390
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Flared nostrils, Micrognathia, Narrow mouth, Chronic constipation, Ataxia, High pal...	OMIM:614756
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of...	ORPHA:84064
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Aspergillosis	Osteomyelitis, Abnormal esophagus morphology, Abnormal long bone morphology, Abnormal rib morphology	ORPHA:1163
Lelis Syndrome	Carious teeth, Midface retrusion, Furrowed tongue, Hypodontia, Mandibular prognathia	ORPHA:140936
Cutis Laxa, Autosomal Recessive, Type Ia	Arachnodactyly, Pectus excavatum, Congenital diaphragmatic hernia, Joint hypermobility	OMIM:219100
Meckel Syndrome 14	Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Aplasia of the uterus, Ambiguous...	OMIM:619879
Melioidosis	Foot osteomyelitis, Parotitis, Abnormality of the spleen, Splenic abscess, Osteoarthritis, Septic...	ORPHA:31202
Shukla-Vernon Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity	OMIM:301029
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Long philtrum, Prominent nasal bridge, Gingival overgrowth, Protruding tongue,...	OMIM:619179
Achondroplasia	Recurrent otitis media, Conductive hearing impairment	OMIM:100800
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Mesomelia-Synostoses Syndrome	Microretrognathia, Hearing impairment, Micromelia, Downslanted palpebral fissures, Telecanthus, M...	OMIM:600383
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serration, Metaphys...	ORPHA:93317
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Pancreatitis	OMIM:600740
Fetal Cytomegalovirus Syndrome	Hepatitis, Retinal hemorrhage, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:294
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal hypoplasia, Small for gestational age, Stahl ear, Renal dyspl...	OMIM:107480
Cronkhite-Canada Syndrome	Furrowed tongue, Stomach cancer, Intestinal polyposis, Tapered finger, Hypogeusia, Hamartomatous ...	ORPHA:2930
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Cholestasis, Pancytopenia, Portal hypertension, Hepatic steatosis, Hypocalcemia,...	OMIM:613658
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Short lingual frenulum, Diastasis recti, U...	ORPHA:1521
Intellectual Developmental Disorder, Autosomal Dominant 29	Low-set ears, Narrow palate, Dental crowding, Hearing impairment, Long philtrum, Ankyloglossia, L...	OMIM:616078
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bilateral cleft palate, Short neck, Bifid tongue	ORPHA:2001
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, ...	ORPHA:809
Slc39A8-Cdg	Low-set ears, Hearing impairment, Elbow flexion contracture, Knee flexion contracture, Limb under...	ORPHA:468699
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Long philtrum, Bulbous nose, Ankyloglossia, Vesicoureteral reflux, Cryptorchid...	ORPHA:250989
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function	ORPHA:229
Parkinson Disease 20, Early-Onset	Involuntary movements, Leg muscle stiffness, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid...	OMIM:615530
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Bradycardia	ORPHA:90673
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Cerebral vasculitis, Recurrent urinary tract infections, Elevated urinar...	OMIM:613179
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Infantile Myofibromatosis	Hypercalcemia, Neoplasm of the pancreas	ORPHA:2591
Proteus Syndrome	Long penis, Pulmonary embolism, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphan...	ORPHA:744
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Recurrent otitis media, Conductive hearing impairment	ORPHA:2502
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic cysts, Hypocalcemia, Hepatome...	OMIM:218330
Megalocornea-Intellectual Disability Syndrome	Protruding ear, Motor stereotypy, Ataxia, Sensorineural hearing impairment	ORPHA:2479
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Hyperkalemia, Hemolytic...	ORPHA:544482
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Sensorineural hearing impairment, Spastic ataxia, Abnormal autonomic nervous system...	ORPHA:300570
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Vacterl Association With Hydrocephalus	Renal hypoplasia	OMIM:276950
Focal Dermal Hypoplasia	Low-set ears, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Broad nasal ...	OMIM:305600
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Motor stereotypy, Failure to thrive, Agitation, Ataxia	ORPHA:927
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Townes-Brocks Syndrome	Hypospadias, Renal hypoplasia, Hearing impairment, Failure to thrive, Renal insufficiency, Vesico...	ORPHA:857
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Wide nasal bridge, Midface retrusion, Hearing impairment, Abnormal ear...	ORPHA:2556
Pgm3-Cdg	Mild neurosensory hearing impairment, Conductive hearing impairment, Chronic otitis media, Sensor...	ORPHA:443811
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm...	ORPHA:1772
Kcnq2-Related Epileptic Encephalopathy	Apnea, Poor gross motor coordination	ORPHA:439218
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Warburg-Cinotti Syndrome	Low-set ears, Hypoplasia of the ear cartilage, Conductive hearing impairment, Atresia of the exte...	OMIM:618175
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, L...	OMIM:194050
Restrictive Dermopathy	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Hypospadias, Choanal atresia, Microcolon, ...	ORPHA:1662
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Cockayne Syndrome Type 1	Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a...	ORPHA:90321
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d...	OMIM:142900
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, S...	ORPHA:71275
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Epilepsy With Eyelid Myoclonia	Abnormal head movements	ORPHA:139431
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Thrombocytopenia, Anemia	ORPHA:163979
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Thin ribs, Abnormal rib cage morphology, Natal tooth, Dental ...	OMIM:234100
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Apnea, Arrhythmia, Abnormal ST segment	ORPHA:1055
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Vomiting, Abnormality of the urethra, Ureterocele, Abnormality of the urinary...	ORPHA:158684
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Isolated Thyroid-Stimulating Hormone Deficiency	Prolonged neonatal jaundice, Macroorchidism, Bradycardia	ORPHA:90674
Cystinosis	Nephropathy, Aminoaciduria, Polydipsia, Failure to thrive, Renal insufficiency, Renal tubular dys...	ORPHA:213
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Vomiting, Gastroesophageal reflux, Hypopnea, Respiratory distress, Apnea, Myoclonus, ...	OMIM:618426
Orofaciodigital Syndrome Type 14	Microretrognathia, Lobulated tongue, Bilateral cryptorchidism, Low-set, posteriorly rotated ears,...	ORPHA:434179
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonit...	ORPHA:131
Renal Nutcracker Syndrome	Varicocele, Renal artery stenosis, Hematuria, Proteinuria, Vulval varicose vein, Syncope, Orthost...	ORPHA:71273
Wolman Disease	Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Ulbright-Hodes Syndrome	Low-set ears, Fibular aplasia, Micrognathia, Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of ...	ORPHA:3404
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy, Limb dystonia, Sensorineural hearing impairment	ORPHA:457351
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Cerebrooculonasal Syndrome	Low-set ears, Optic nerve hypoplasia, Posteriorly rotated ears, Conductive hearing impairment	OMIM:605627
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Viral hepatitis, Ascites, Splenomegaly, Sclerosin...	ORPHA:2137
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Mirage Syndrome	Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen	OMIM:617053
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni...	OMIM:249100
Meier-Gorlin Syndrome 6	Stenosis of the external auditory canal, Microtia, Posteriorly rotated ears, Conductive hearing i...	OMIM:616835
Oculodentodigital Dysplasia	Optic atrophy, Conductive hearing impairment, Hearing impairment, Abnormality of the ear, Abnorma...	ORPHA:2710
Shwachman-Diamond Syndrome 2	Death in childhood, Death in infancy, Anterior rib cupping, Metaphyseal widening, Steatorrhea, Hi...	OMIM:617941
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Chronic diarrhea, Impaired lymphocyte transformation with phytohemagglu...	OMIM:300400
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention deficit h...	ORPHA:476126
Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Renal tubular acidosis, Splenomeg...	ORPHA:264580
Scimitar Syndrome	Abnormality of the vertebral column, Abnormal hemidiaphragm morphology, Hypoplasia of the diaphragm	ORPHA:185
Loeys-Dietz Syndrome 6	Bifid uvula, Hip osteoarthritis, Broad uvula, Abnormal sternum morphology, Osteochondritis dissec...	OMIM:619656
Gm1-Gangliosidosis, Type Ii	Thoracolumbar kyphosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Protruding tongue, Th...	OMIM:230600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Failure to thrive, Protruding ear, Hydronephrosis, Renal ...	ORPHA:464311
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ...	ORPHA:168558
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs	OMIM:614857
Holoprosencephaly 13, X-Linked	Low-set ears, Gastroesophageal reflux, Optic nerve hypoplasia, Hearing impairment, Alobar holopro...	OMIM:301043
8Q24.3 Microdeletion Syndrome	Unilateral renal agenesis, Bilateral renal hypoplasia, Asymmetry of the ears, Vesicoureteral refl...	ORPHA:508488
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Incr...	OMIM:620376
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Abnormal temper tantrums, Aggressive behavior, Ataxia, Motor stereotypy	ORPHA:457279
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:235510
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence, Attention deficit hyperactivity disorder, Motor stereotypy, Paroxysmal dyst...	ORPHA:98784
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Limb Body Wall Complex	Cleft lip, Thoracic hypoplasia, Broad hallux, Aplasia of the proximal phalanges of the hand, Cuta...	ORPHA:2369
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ...	ORPHA:289548
Hunter-Macdonald Syndrome	Conductive hearing impairment, Cranial nerve paralysis, Sensorineural hearing impairment	OMIM:611962
Orofaciodigital Syndrome Xiv	Low-set ears, Microretrognathia, Natal tooth, Cleft lip, Anteriorly placed anus, Occipital enceph...	OMIM:615948
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona...	ORPHA:71493
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta...	OMIM:613812
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Moderate albuminuria, Type I diabetes mellitus, Scoliosis, Bilateral choanal atresi...	OMIM:619525
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,...	ORPHA:90793
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Developmental And Epileptic Encephalopathy 100	Thoracolumbar kyphosis, Depressed nasal bridge, Broad nasal tip, Elbow flexion contracture, Micro...	OMIM:619777
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:215150
Alzahrani-Kuwahara Syndrome	Low-set ears, Hypospadias, Hearing impairment, Long philtrum, Bulbous nose, Prominent nose, Micro...	OMIM:619268
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Decreased skull ossi...	ORPHA:3472
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:158061
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Abnormal pinna morphology, Conductive hearing impairment, Atresia of the external ...	OMIM:603457
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia	OMIM:620502
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Norrie Disease	Optic atrophy, Abnormal helix morphology, Narrow nasal bridge, Cryptorchidism, Malar flattening, ...	ORPHA:649
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Prominent ear helix, Ankyloglossia, Limited hip movement, Micrognat...	ORPHA:740
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Decreased response to growth hormone...	OMIM:180500
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Failure to thrive, Protruding ear, Hydronephrosis, Renal ...	ORPHA:464306
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Coffin-Lowry Syndrome	Narrow palate, Pectus carinatum, Bifid sternum, Dental malocclusion, Thick lower lip vermilion, W...	OMIM:303600
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Neoplasm of t...	ORPHA:358
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, ...	OMIM:620242
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epiglottis, Median cleft upp...	OMIM:617088
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Giant Axonal Neuropathy	Facial palsy, Limb muscle weakness, Abnormality of the Achilles tendon, Abnormal pituitary gland ...	ORPHA:643
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Mitral regurgitation, Juvenile gastrointestinal polyposis, Telangiectasi...	OMIM:175050
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Congenital Tracheomalacia	Recurrent upper respiratory tract infections, Gastroesophageal reflux, Intercostal retractions, A...	ORPHA:95430
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular se...	OMIM:309801
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei...	ORPHA:29073
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Abnormality of the outer ear, Prominent antihelix, Conductive hearing impairment, Sensorineural h...	ORPHA:466943
Codas Syndrome	Crumpled ear, Conductive hearing impairment, Sensorineural hearing impairment	OMIM:600373
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Conductive hearing impairment, Optic disc coloboma, Sensorineural hearing ...	ORPHA:959
Okamoto Syndrome	Low-set ears, Abnormal helix morphology, Exaggerated median tongue furrow, Open bite, Open mouth,...	ORPHA:2729
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebe...	ORPHA:247815
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Ankyloblepharon, Hydroureter, Agenesis of permane...	ORPHA:1401
Pitt-Hopkins Syndrome	Self-injurious behavior, Cupped ear, Gait ataxia, Micropenis, Thickened helices, Motor stereotypy	OMIM:610954
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Ambiguous genitalia, female, Absent sc...	OMIM:258040
5Q14.3 Microdeletion Syndrome	Motor stereotypy, Optic nerve hypoplasia	ORPHA:228384
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly,...	OMIM:615688
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Unilateral renal agenesis, Abnormal renal collecting system morphology, ...	ORPHA:468631
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Mandibular prognathia, Protruding tongue, Widely spaced teeth	ORPHA:98795
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Mixed hearing impairment, Conductive hearing impairment, High-frequency sensorineural hearing imp...	OMIM:614557
Congenital Myopathy 13	Low-set ears, Conductive hearing impairment	OMIM:255995
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Obesity, Vesicoureteral reflux, Hydronephrosis, Motor stereotypy, Micropenis, Overf...	OMIM:618653
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiom...	OMIM:105210
Holoprosencephaly 4	Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Me...	OMIM:142946
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Low-set ears, Hair-pulling, Protruding ear, Motor stereotypy, Hyperactivity, Urinary incontinence...	ORPHA:447997
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Facial diplegia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Trunca...	OMIM:619121
Hypotonia, Ataxia, And Delayed Development Syndrome	Low-set ears, Pain insensitivity, Vesicoureteral reflux, Gait ataxia, Dysmetria, Truncal ataxia, ...	OMIM:617330
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Renal hypoplasia, Failure to thrive, Renal cyst, Micropenis, Polycystic kidney dysp...	OMIM:210710
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmun...	OMIM:620565
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Wiedemann-Steiner Syndrome	Low-set ears, Failure to thrive, Motor stereotypy, Aggressive behavior, Hyperactivity, Dysphagia,...	ORPHA:319182
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Phakomatosis Pigmentokeratotica	Hyperesthesia, Unilateral renal hypoplasia, Renal transitional cell carcinoma, Nephroblastoma	ORPHA:2874
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Myocardial eosinophilic infiltration, Neutrophilia, Myeloprol...	ORPHA:3260
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia	OMIM:148210
Psoriasis 14, Pustular	Polyarticular arthritis, Furrowed tongue, Oligoarthritis, Geographic tongue	OMIM:614204
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Thin upper ...	OMIM:277380
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Optic atrophy, Self-injurious behavior, Failure to thrive, Frequent temper tantrums...	OMIM:619512
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Widely spaced teeth, Wide mouth, Limitation of movement at ankles, Protrud...	ORPHA:98794
Brucellosis	Arteritis, Hypersplenism, Glomerulonephritis, Hepatomegaly, Epididymitis, Endocarditis, Granuloma...	ORPHA:1304
Juvenile Sialidosis Type 2	Low-set ears, Hearing impairment, Abnormal form of the vertebral bodies, Umbilical hernia, Hepato...	ORPHA:93399
Native American Myopathy	Conductive hearing impairment	ORPHA:168572
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Open mouth, Everted lower lip...	ORPHA:534
Microphthalmia, Syndromic 6	Low-set ears, Renal hypoplasia, Hearing impairment, Failure to thrive, Protruding ear, Uplifted e...	OMIM:607932
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hyper...	ORPHA:199299
Angelman Syndrome Due To A Point Mutation	Wide mouth, Mandibular prognathia, Protruding tongue, Widely spaced teeth	ORPHA:411511
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Hypopnea, Apnea, Ineffective esophageal peristalsis, Chronic constipatio...	OMIM:619482
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy	ORPHA:54028
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Decreased body weight, Hematuria, Torticollis, Ataxia, Bilateral sensorineura...	OMIM:619475
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Mucolipidosis Type Ii	Conductive hearing impairment, Otitis media, Sensorineural hearing impairment	ORPHA:576
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Acute leukemia, Short distal phala...	ORPHA:289
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co...	OMIM:133540
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Skeletal muscle atrophy, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow...	ORPHA:89842
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamin...	ORPHA:653
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Cockayne Syndrome A	Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co...	OMIM:216400
Holoprosencephaly 2	Anterior pituitary agenesis, Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, ...	OMIM:157170
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy	ORPHA:158687
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Broad ri...	OMIM:619727
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronod...	OMIM:251880
Feingold Syndrome Type 1	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:391641
Hypoglossia-Hypodactylia	Microglossia, Adactyly, Aglossia, Narrow mouth, Split hand	OMIM:103300
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroi...	ORPHA:144
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad metacarpals, Cleft lip, Broad ribs, Genu valgum, Open mouth, Limited elbow extension, Broad...	OMIM:301066
Developmental And Epileptic Encephalopathy 66	Motor stereotypy	OMIM:618067
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
3Mc Syndrome 1	Conductive hearing impairment, Hearing impairment	OMIM:257920
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality...	ORPHA:909
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Monosomy 18Q	Bilateral conductive hearing impairment, Macrotia, Sensorineural hearing impairment	ORPHA:1600
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Neurogenic bladder, Dysphagia, Optic nerve hypoplasia	ORPHA:572013
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Death in childhood, Death in infancy, Multiple rib fractures...	OMIM:612301
Supranuclear Palsy, Progressive, 2	Postural tremor, Retrocollis, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia, Dysphagia	OMIM:609454
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc...	OMIM:230000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere...	OMIM:610042
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplasia of the odontoid process, Limitation of joint ...	OMIM:607326
Childhood Disintegrative Disorder	Urinary incontinence, Motor stereotypy	ORPHA:168782
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apneic episodes in infancy, Apnea, Hypertrophic cardiomyopathy, Ankle clonus	OMIM:618222
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Splenomegaly, Hepatic stea...	OMIM:269700
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Microphthalmia, Syndromic 1	Low-set ears, Renal hypoplasia, Hydroureter, Hearing impairment, Optic disc coloboma, Recurrent o...	OMIM:309800
Viss Syndrome	Low-set ears, Exostosis of the external auditory canal, Recurrent joint dislocation, Micrognathia...	OMIM:619472
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Singleton-Merten Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Carious teeth, Shallow acetabular fossae, Eruption failure...	OMIM:182250
Premature Ovarian Failure 7	Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis	OMIM:612964
Oculodentodigital Dysplasia	Conductive hearing impairment, Abnormal pinna morphology	OMIM:164200
Joubert Syndrome 6	Ataxia, Stage 5 chronic kidney disease, Motor stereotypy, Nephronophthisis	OMIM:610688
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Knee flexion contracture, Weakness of facial musculature, Ptosis, Meconium ileus	OMIM:617239
Hijazi-Reis Syndrome	Motor stereotypy	OMIM:301094
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Hypospadias, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelv...	OMIM:619522
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Choanal atresia, Hydroureter, Camptodactyly of finger, Abnormal dental enamel morphology, Thin ey...	ORPHA:2273
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal earlobe morphology, Duodenal stenosis, Abnormal stomach morphology,...	ORPHA:141127
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Cleft lip, Congenital diaphragmatic hernia, Cleft palate	OMIM:611812
Supranuclear Palsy, Progressive, 1	Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia, Dysphagia	OMIM:601104
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Tricuspid regur...	OMIM:300972
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy	ORPHA:168491
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Nephro...	OMIM:608594
Cowden Syndrome	Furrowed tongue, Bone cyst, Colorectal polyposis, Pectus excavatum, Brachydactyly, Macroglossia, ...	ORPHA:201
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Jerky head movements	ORPHA:64280
Acrofrontofacionasal Dysostosis 1	Mixed hearing impairment, Optic atrophy	OMIM:201180
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Distal lower limb amyotrophy, Oral mucosal blisters, Enamel hypoplasia, Craniosyno...	ORPHA:79396
Agel Amyloidosis	Xerostomia, Hearing impairment, Stage 5 chronic kidney disease, Proteinuria, Abnormal spleen morp...	ORPHA:85448
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Nephrocalcinosis, Abnormality of the urinary system, Hearing impairment, Obesity, R...	ORPHA:369837
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Self-injurious behavior, Fixated interests, Hair-pulling, Protruding ear, Hyd...	OMIM:620330
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Pulmonary hemorrhage, Stage 5 ch...	OMIM:222700
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth	ORPHA:1839
Houge-Janssens Syndrome 3	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618354
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypogonadotropic hypogonadism, Bradycardia	ORPHA:226307
Cystic Fibrosis	Nasal polyposis, Gastroesophageal reflux, Hearing impairment, Exocrine pancreatic insufficiency, ...	ORPHA:586
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Ascites, Arrhythmia, Lymphadenopathy, A...	ORPHA:139411
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment	ORPHA:536545
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Decreased erythrocy...	OMIM:611881
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormality of the urinary system, Conductive hearing impairment, Failur...	ORPHA:353281
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Conductive hearing impairment, Calcification of the auricular cartilage, Macrotia	ORPHA:3042
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Common Variable Immunodeficiency	Vasculitis, Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thro...	ORPHA:1572
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Congenital Sialidosis Type 2	Low-set ears, Hearing impairment, Umbilical hernia, Hepatosplenomegaly, Gingival overgrowth, Prot...	ORPHA:93400
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia, Dislocated radial head	ORPHA:2975
Acute Adrenal Insufficiency	Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin...	ORPHA:95409
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess...	ORPHA:251937
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Hypotension, Sho...	ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Prolactinoma	Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins...	ORPHA:2965
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Cervical ribs, Intestinal malrotation, Congenital diaphragmatic he...	OMIM:600001
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Thoracoabdominal Syndrome	Cleft palate, Congenital diaphragmatic hernia, Cleft upper lip	OMIM:313850
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Renal agenesis, Abnormal vagina morphology	ORPHA:247768
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Angelman Syndrome	Mandibular prognathia, Precocious puberty in females, Widely spaced teeth, Delayed menarche, Prot...	ORPHA:72
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Oligosacchariduria, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened...	ORPHA:365
Microsporidiosis	Nephritis, Lymphadenitis, Abnormality of the parathyroid gland, Urethritis, Abnormality of the sp...	ORPHA:2552
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials	ORPHA:401973
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Tricuspid regurgitation, Cryptorchidism, Patent foramen ovale, Spl...	OMIM:620371
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micropenis, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620073
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Renal hypoplasia, Abnormal pelvis bone ossification, Long philtrum, Cleft...	ORPHA:93271
Down Syndrome	Aganglionic megacolon, Conductive hearing impairment, Microtia	OMIM:190685
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Hypokalemia, Neoplasm ...	ORPHA:97282
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Ly...	ORPHA:32960
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Renal hypoplasia, Abdominal obesity, Micropenis, Optic nerve hypoplasia	OMIM:619321
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Addison Disease	Normocytic anemia, Thymoma, Thiamine-responsive megaloblastic anemia, Hyperuricemia, Hyponatremia...	ORPHA:85138
Cardiac-Valvular Ehlers-Danlos Syndrome	Severe conductive hearing impairment	ORPHA:230851
Arboleda-Tham Syndrome	Low-set ears, Small earlobe, Optic atrophy, Prominent antihelix, Recurrent urinary tract infectio...	OMIM:616268
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Overfolded helix, Conductive hearing impairment, Uplifted earlobe	OMIM:280000
Primary Sclerosing Cholangitis	Hepatic fibrosis, Spider hemangioma, Cholelithiasis, Palmar telangiectasia, Hepatitis, Congestive...	ORPHA:171
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Osteopenia, Congenital hip dislocation, Dental crowding, Joint dislocation, Joint hype...	OMIM:225400
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ...	OMIM:613471
Bladder Exstrophy	Bladder exstrophy, Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the...	ORPHA:93930
Abetalipoproteinemia	Hepatic fibrosis, Congestive heart failure, Acanthocytosis, Hepatic steatosis, Reticulocytosis, C...	ORPHA:14
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Osteopenia, Carious teeth, Foot joint contracture, Urinary bladder sphinc...	ORPHA:79408
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Van Esch-O'Driscoll Syndrome	Protruding ear, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Microtia	OMIM:301030
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega...	ORPHA:51
Diamond-Blackfan Anemia 1	Renal hypoplasia, Failure to thrive	OMIM:105650
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Neoplasm of the thymus, Neoplasm of the pancreas, Inter...	ORPHA:97261
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Neoplasm of the pancreas, Intermittent jaundice, Hepato...	ORPHA:97278
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Gonadal dysgenesis, Hypoplastic labia majora, Hypopl...	OMIM:618419
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Microcytic anemia, Splenomegaly, Cardiomegaly, Arrhythmia, Lymphadenopa...	OMIM:256040
Turnpenny-Fry Syndrome	Low-set ears, Microtia, Conductive hearing impairment, Satyr ear	OMIM:618371
Somatostatinoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Gallbladder dysfunctio...	ORPHA:97283
Niemann-Pick Disease, Type C2	Motor stereotypy, Dystonia, Dysphagia, Ataxia	OMIM:607625
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig...	ORPHA:90796
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Mucoepithelial Dysplasia, Hereditary	Hearing impairment, Erythematous oral mucosa, Furrowed tongue, Hematuria, Keratoconjunctivitis, E...	OMIM:158310
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Self-mutilation, Decreased body weight, Attention deficit hyperactivity ...	OMIM:619005
Vater/Vacterl Association	Short thumb, Abnormal sternum morphology, Preaxial polydactyly, Absent radius, Radioulnar synosto...	OMIM:192350
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia	OMIM:131100
Developmental And Epileptic Encephalopathy 31B	Low-set ears, Gingival overgrowth, Protruding tongue	OMIM:620352
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Sandifer Syndrome	Abnormal head movements, Torticollis	ORPHA:71272
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu...	OMIM:306400
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo...	ORPHA:158668
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Yunis-Varon Syndrome	Low-set ears, Micrognathia, Cryptorchidism, Anterior concavity of thoracic vertebrae, Sensorineur...	OMIM:216340
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Exocrine pancreatic insufficiency, Portal hypertensio...	OMIM:243800
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Duplication Of The Pituitary Gland	Hearing impairment, Thoracic scoliosis, Abnormal hypothalamus morphology, Abnormal pituitary glan...	ORPHA:314621
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine...	OMIM:619534
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Woodhouse-Sakati Syndrome	Abnormal T-wave, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia...	OMIM:241080
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria, Megaloblastic anemia, Neutropenia, Glossitis, ...	ORPHA:79284
Glucagonoma	Intrahepatic cholestasis, Acanthocytosis, Neoplasm of the pancreas, Intermittent jaundice, Hepato...	ORPHA:97280
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Self-injurious behavior, Abnormality of the urinary system, Conductive hearing impa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Self-injurious behavior, Abnormality of the urinary system, Conductive hearing impa...	ORPHA:353277
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Cervical ribs	ORPHA:2255
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Ketonuria, Methylmalonic aciduria, Renal insufficiency, Smooth philtrum, Megaloblas...	ORPHA:79282
Acrodermatitis Enteropathica	Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis	ORPHA:37
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia, Pancreatitis	ORPHA:99880
Cystic Fibrosis	Nasal polyposis, Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal p...	OMIM:219700
Floating-Harbor Syndrome	Low-set ears, Recurrent otitis media, Posteriorly rotated ears, Conductive hearing impairment	OMIM:136140
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus	OMIM:615300
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Obesity, Skin-picking, Attention deficit hyperactivity di...	ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Kawasaki Disease	Strawberry tongue, Sterile pyuria, Cervical lymphadenopathy, Lip fissure, Leukocytosis, Proteinur...	ORPHA:2331
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Adrenocorticotropin deficient adrenal insufficiency...	ORPHA:293978
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia, Pancreatitis	ORPHA:143
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Renal hypoplasia, Ureteral stenosis	OMIM:270100
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Nmda Receptor Encephalitis	Oculogyric crisis, Orthostatic tachycardia, Chorea, Opisthotonus, Orthostatic hypotension, Abnorm...	ORPHA:217253
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Mixed hearing impairment, Posteriorly rotated ears, Peripapillary atrophy	ORPHA:536467
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis,...	ORPHA:3464
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Self-injurious behavior, Failure to thrive, Tremor, Sensorineural hearing impairmen...	OMIM:612474
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Uterine rupture, Arterial rupture, Cystocele, Hemothorax, Cryptorchi...	OMIM:130050
Multiple Endocrine Neoplasia Type 4	Thymoma, Insulinoma, Abnormality of pancreas physiology, Hypercalcemia, Extrahepatic cholestasis	ORPHA:276152
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Horseshoe kidney, Opisthotonus, Motor stereotypy	ORPHA:508533
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Combined Immunodeficiency-Enteropathy Spectrum	Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Autoimmune hemolytic an...	ORPHA:436252
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia, Extrahepatic cholestasis	ORPHA:913
Neurooculorenal Syndrome	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:620305
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Renal malrotation	OMIM:615866
Coccidioidomycosis	Broad ribs, Osteomyelitis, Abnormal long bone morphology, Abnormal metacarpal morphology, Arthrit...	ORPHA:228123
Otopalatodigital Syndrome, Type Ii	Low-set ears, Posteriorly rotated ears, Conductive hearing impairment	OMIM:304120
Branchiootic Syndrome 3	Sensorineural hearing impairment	OMIM:608389
Sotos Syndrome	Conductive hearing impairment, Hearing impairment, Cholesteatoma, Aganglionic megacolon, Chronic ...	ORPHA:821
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Pachyonychia Congenita 3	Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip	OMIM:615726
Developmental And Epileptic Encephalopathy 2	Motor stereotypy	OMIM:300672
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Stage 5 chronic kidney diseas...	OMIM:309000
Multiple Endocrine Neoplasia Type 1	Thymoma, Insulinoma, Hypercalcemia, Neoplasm of the pancreas	ORPHA:652
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Simple ear, Conductive hearing impairment	OMIM:201750
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Recurrent otitis media, Sensorineural hearing impairment, Decreased...	ORPHA:2152
Plague	Inflammation of the large intestine, Lymphadenitis, Hearing impairment, Chapped lip, Splenomegaly...	ORPHA:707
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Hypospadias, Multicystic kidney dysplasia, Failure to thrive, Impaired pain sensati...	ORPHA:261537
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Neu-Laxova Syndrome 1	Renal agenesis, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of...	OMIM:256520
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Recurrent otitis media, Sensorineural hearing impairment, Chordee, ...	ORPHA:261552
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Abnormal heart valve morphology, Transient ischemic attack, Cystocele, Cryptorch...	ORPHA:286
Loeys-Dietz Syndrome	Cardiac arrest, Uterine rupture	ORPHA:60030
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Motor stereotypy	OMIM:616682
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Six1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Six1.

No publications found that use IMPC mice or data for Six1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Six1^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Six1 MGI:102780

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Six1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data