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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
decreased circulating calcium level	Six1^em1(IMPC)Mbp	HET	Early adult	4.80×10^-05
enlarged heart	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
prolonged RR interval	Six1^em1(IMPC)Mbp	HET	Late adult	1.91×10^-10
abnormal blood vessel morphology	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
small kidney	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
preweaning lethality, complete penetrance	Six1^em1(IMPC)Mbp	HOM	Early adult	0.00
edema	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal skin morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal blood vessel morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged spleen	Six1^em1(IMPC)Mbp	HET	Late 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
small spleen	Six1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased heart rate	Six1^em1(IMPC)Mbp	HET	Late adult	1.14×10^-07
abnormal craniofacial morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal kidney morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta vasculature	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
decreased prepulse inhibition	Six1^em1(IMPC)Mbp	HET	Early adult	3.87×10^-08
abnormal heart morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta morphology	Six1^em1(IMPC)Mbp	HET	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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Human diseases caused by Six1 mutations

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

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

Human diseases associated with Six1 (4 diseases)
Human diseases predicted to be associated with Six1 (2920 diseases)

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

Disease	Matching phenotypes	Source
Bor Syndrome	Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal...	ORPHA:107
Branchiootic Syndrome	Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte...	ORPHA:52429
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
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
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Sprengel Deformity	Torticollis, Shoulder muscle hypoplasia, Cleft palate, Abnormal shoulder morphology, Abnormality ...	ORPHA:3181
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal thorax morphology, Neonatal deat...	OMIM:253310
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia...	ORPHA:251061
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Bor Syndrome	Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal...	ORPHA:107
Branchiootorenal Syndrome 1	High palate, Vesicoureteral reflux, Conductive hearing impairment, Microdontia, Bifid uvula, Faci...	OMIM:113650
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Unilateral deafness	OMIM:612097
Congenital Patella Dislocation	Aplasia/Hypoplasia of the quadriceps, Genu valgum, Knee flexion contracture, Patellar dislocation...	ORPHA:295036
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Underdeveloped nasal alae, Short...	OMIM:616549
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia, Neck muscle hypoplasia	OMIM:184400
Middle Ear Neuroendocrine Tumor	Abnormality of the tympanic membrane, Facial palsy, Carcinoid tumor, Abnormality of the auditory ...	ORPHA:100084
Branchiootic Syndrome	Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte...	ORPHA:52429
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Glossoptosis, Mandibular condyle apla...	OMIM:614669
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Absent tragus, Accessory oral frenulum, Micrognathia, Hypoplasia of the ...	ORPHA:79113
Pendred Syndrome	Hyperparathyroidism, Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ...	ORPHA:705
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Short philtrum, Bifid uvula, Depre...	OMIM:301022
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Kne...	OMIM:305620
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Monosomy 22	Low-set, posteriorly rotated ears, Wide nose, Epicanthus, Aplasia of the thymus, Synophrys, Hypoc...	ORPHA:96123
Ring Chromosome 8 Syndrome	Epicanthus, Anteverted nares, Abnormality of the ureter, Round ear, Short nose, Hydronephrosis, A...	ORPHA:1450
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Deafness, Unilateral	Unilateral deafness	OMIM:125000
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o...	OMIM:609813
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy	ORPHA:1513
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis	OMIM:184460
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment	ORPHA:2669
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis	OMIM:185800
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hypospadias, Malar prominence, Micrognathia, Short neck, Hyperlordosi...	ORPHA:2522
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus...	ORPHA:2463
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma...	ORPHA:559
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Recurrent urinary tract infections, Apnea, Prominent nose, Optic atrophy...	OMIM:619527
Becker Nevus Syndrome	Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerary ribs, Sh...	ORPHA:64755
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Micrognathia, Downturned corners of mouth, Choanal stenosis, Gastroesophageal reflux, Severe sens...	OMIM:620186
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Flexion contracture, Short philt...	OMIM:620369
Multiple Synostoses Syndrome	Conductive hearing impairment	ORPHA:3237
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal oral mucosa morphology, Micr...	ORPHA:1968
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Abnormal pinna morphology, Hypospadias, Micrognathia, Anencep...	OMIM:236680
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Tor...	ORPHA:2790
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Limited wrist...	ORPHA:602
Meier-Gorlin Syndrome 8	Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-set ears, Decreased body weight	OMIM:617564
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal	OMIM:221320
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Cervical Rib	Cervical ribs	OMIM:117900
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Lipedema	Edema	OMIM:614103
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplas...	ORPHA:861
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen...	OMIM:256030
Nager Syndrome	Low-set, posteriorly rotated ears, Unilateral renal agenesis, Micrognathia, Hypoplasia of the max...	ORPHA:245
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Apnea, Micrognathia, Synophrys, Deep philtrum, Opisthotonus, Choreoathet...	OMIM:614969
Distal 17P13.1 Microdeletion Syndrome	Prominent nasal bridge, Limited elbow movement, Generalized joint laxity, Protruding ear, High pa...	ORPHA:319171
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Nephrogenic diabetes insipidus, Supernumerary tooth, Limitation of j...	ORPHA:3145
Wieacker-Wolff Syndrome	Apnea, Micrognathia, High palate, Neonatal respiratory distress, Anteverted nares, Facial palsy, ...	OMIM:314580
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Thin upper lip vermilion, Anteverted nares, Micrognathia, Upslanted palpebral fissure, Long eyela...	OMIM:618608
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Protruding ear, Genu valgum, Joint hype...	ORPHA:1778
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Depressed nasal bridge, Decreased response to growth hormone stim...	OMIM:618223
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
17Q21.31 Microduplication Syndrome	Epicanthus, Anteverted nares, Abnormality of the dentition, Micrognathia, Synophrys, High palate,...	ORPHA:217340
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr...	OMIM:602450
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Childhood-Onset Nemaline Myopathy	Micrognathia, Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, High ...	ORPHA:171439
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Otofaciocervical Syndrome 1	Mixed hearing impairment, Scapular winging, Hypoplasia of the cochlea, Cupped ear, High palate, C...	OMIM:166780
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Dysostosis, Stanescu Type	Narrow nasal bridge, Persistent open anterior fontanelle, Increased bone mineral density, Abnorma...	ORPHA:1798
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Gastroesophageal reflux, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, L...	OMIM:614701
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, A...	ORPHA:293939
Toluene Embryopathy	Micrognathia, Cryptorchidism, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ...	ORPHA:1920
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Aplasia/Hyp...	ORPHA:3236
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Apnea, Rigidity, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Low-s...	OMIM:610127
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Joubert Syndrome 3	Central apnea, Epicanthus, Anteverted nares, Ataxia, Highly arched eyebrow, Episodic tachypnea, W...	OMIM:608629
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea, Micrognathia, Tremor, Flexion contracture, Choreoathetosis, High palate, Male hypogonadism...	OMIM:300055
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis...	ORPHA:1452
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Micrognathia, Respiratory insufficiency due to muscle weakness, Flexion c...	ORPHA:171442
Aural Atresia, Congenital	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hearing impairment, Hand muscle weakness, Action tremor, ...	ORPHA:254886
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Respiratory distress, Telecanthus, Tented upper lip vermilion, Depressed nasal br...	ORPHA:314655
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co...	ORPHA:87
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Abnormal rib morphology, Rib fusion, Cleft palate, Orofaci...	ORPHA:1988
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Distal Deletion 10Q	Clonus, Prominent nose, Micrognathia, Functional abnormality of the bladder, Short metatarsal, Pr...	ORPHA:96148
Acrofacial Dysostosis, Catania Type	Microretrognathia, Low-set, posteriorly rotated ears, Preauricular pit, Hypospadias, Abnormality ...	ORPHA:1786
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteverted nares, Choanal atresia, Depressed nasal bridge, Preauricular skin furrow, Craniosynost...	ORPHA:1555
Frontometaphyseal Dysplasia	Limited elbow movement, Metaphyseal widening, Short metatarsal, Oligodontia, Short phalanx of fin...	ORPHA:1826
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Choanal atresia, Re...	ORPHA:83
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her...	ORPHA:958
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Multiple pterygia, Cleft upper lip, Flexion contracture, Cle...	OMIM:312150
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, High palate, Hypoplasia of the musculature	ORPHA:85323
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Joint stiffness, Radial deviation o...	ORPHA:1388
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Anteverted nares, Prominent nasal bridge, Depressed nasal...	OMIM:617796
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Congenital diaphragma...	ORPHA:2311
Noonan Syndrome	Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Micrognathia, Aplasia of the se...	ORPHA:648
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Ataxia, Apnea, Dyspnea, Sensorineural hearing impairment,...	OMIM:615636
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic...	ORPHA:2549
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana...	OMIM:609166
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ...	ORPHA:1110
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Micromelia, Flexi...	OMIM:610015
Craniometaphyseal Dysplasia	Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n...	ORPHA:1522
Snakebite Envenomation	Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, Muscle fiber necrosis, R...	ORPHA:449285
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft...	ORPHA:3253
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Posteriorly rotated ears, Aggressive behavior, Macrotia...	OMIM:609425
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Distal Deletion 1Q	Epicanthus, Depressed nasal bridge, Micrognathia, Thin vermilion border, Low-set ears, Smooth phi...	ORPHA:36367
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,...	OMIM:619048
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Ptosis, Telecanthus, Anteverted nares, Prominent nasal bridge,...	ORPHA:949
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Apnea, Micrognath...	OMIM:602483
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism, Sensorin...	ORPHA:1131
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
48,Xxyy Syndrome	Hypoplasia of penis, Apnea, Tremor, Gastroesophageal reflux, Chronic otitis media, Ataxia, Abnorm...	ORPHA:10
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:560
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Anteverted nares, Prominen...	ORPHA:220497
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Ethanolaminosis	Cardiomegaly	OMIM:227150
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Hypoplasia of penis, Hypogonadotropic hypogonadism, Joint stiffness, An...	ORPHA:1295
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf...	OMIM:155100
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas...	ORPHA:2141
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Depressed nasal bridge, Anteverted nares, Clonus, ...	OMIM:617301
3Mc Syndrome 2	Torticollis, Diastasis recti, Hypoplasia of the musculature, Cleft upper lip, Partial abdominal m...	OMIM:265050
Warsaw Breakage Syndrome	Epicanthus, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, Wide mouth, High palate, ...	OMIM:613398
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Crypto...	ORPHA:193
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares, Long philtrum	ORPHA:3074
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Melkersson-Rosenthal Syndrome	Facial palsy, Furrowed tongue	OMIM:155900
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Underdeveloped nasal alae, Prominent nose, Conical tooth, Sensorineural hearing impairment, Synop...	ORPHA:90024
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment	ORPHA:85179
Shashi-Pena Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Unilateral renal agenesis, Broad nasal tip, A...	OMIM:617190
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Ragged-red muscle fibers, Gait ataxia, Muscle fiber necrosis, Generalize...	OMIM:258450
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Hydrocephalus, R...	ORPHA:163961
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Calf muscle hypertrophy,...	OMIM:158900
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Anteverted nares, Microg...	ORPHA:2015
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con...	OMIM:254940
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Apnea, Cryptorchidism, Thick lower lip vermilion, Widely spaced teeth,...	OMIM:619797
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Cleft palate, Thin r...	OMIM:253290
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic fronta...	OMIM:136760
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the spleen, Abnormality of the ure...	ORPHA:2487
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Low-set...	OMIM:617333
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ...	OMIM:612290
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep...	ORPHA:2162
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Intellectual Developmental Disorder, Autosomal Dominant 56	Thin upper lip vermilion, Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impai...	OMIM:617854
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Narrow chest, Bifid ribs, Sprengel anomaly...	ORPHA:1394
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Preauricular pit, Wide nose, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Subm...	OMIM:619227
Congenital Myopathy 19	Skeletal muscle atrophy, Posteriorly rotated ears, Facial hypotonia, Hearing impairment, Microgna...	OMIM:618578
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Chromosome 22Q11.2 Duplication Syndrome	Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasa...	OMIM:608363
Schinzel-Giedion Syndrome	Respiratory distress, Micrognathia, Abnormality of the gingiva, Vocal cord paralysis, Renal cyst,...	ORPHA:798
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip...	ORPHA:1812
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Cleft pala...	ORPHA:2345
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Sensorineural hearing impairment, Optic a...	OMIM:601338
9Q33.3Q34.11 Microdeletion Syndrome	Patellar hypoplasia, Micropenis, Abnormality of the kidney, Highly arched eyebrow, Cryptorchidism...	ORPHA:495818
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl...	ORPHA:206549
Monosomy 13Q34	Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Epistaxis, Broad nasal tip, Promine...	ORPHA:96168
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Dental crowding, Underdevel...	OMIM:619941
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment,...	OMIM:122880
Glass Syndrome	Dental crowding, Apnea, Conical tooth, Long nose, Micrognathia, Oligodontia, High palate, Antever...	OMIM:612313
Acute Promyelocytic Leukemia	Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Vertigo, Leukocytosis, Gingival overgrowt...	ORPHA:520
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Depressed nasal bridge, Micrognathia, Cryptorchidism, Bulbous nose, Optic atrop...	OMIM:618766
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Depresse...	ORPHA:1832
Ring Chromosome 7 Syndrome	Unilateral ptosis, Mandibular prognathia, Short philtrum, Holoprosencephaly, Small earlobe, Media...	ORPHA:1449
Maxillonasal Dysplasia	Mandibular prognathia, Patchy distortion of vertebrae, Depressed nasal bridge, Hypoplasia of the ...	ORPHA:1248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardio...	OMIM:618815
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Gait ataxia, Upper limb muscle weakness, C...	ORPHA:1435
Severe X-Linked Intellectual Disability, Gustavson Type	Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory tract infections, Optic atro...	ORPHA:3078
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Cleft palate, Joint contracture, Hypoplasia of the musculature, Pterygium	OMIM:225790
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Glossoptosis, High palate, Squared iliac bones, Rib fusion, Ulnar...	OMIM:611209
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Wide nasal bridge, Aplasia/Hypoplasia of the external ear, ...	ORPHA:168486
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsa...	OMIM:619841
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Parapares...	OMIM:615157
Pfeiffer Syndrome	Mandibular prognathia, Short neck, Hyperlordosis, Wide nasal bridge, High palate, Hypoplasia of t...	ORPHA:710
Pontocerebellar Hypoplasia, Type 6	Appendicular spasticity, Lower limb spasticity, Apnea, Elbow contracture, Prominent nasal bridge,...	OMIM:611523
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Cleft upper lip, Short neck, Sensorineural hearing impairment, Cleft p...	OMIM:214300
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Cleft palate, Posterior rib fusion	ORPHA:1797
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Broad nasal tip, Moderate hearing impairment, Upper limb muscle weaknes...	ORPHA:370010
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Block vertebrae, Rib fusion, Vertebral fusion	OMIM:277300
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Dental crowding, Hypoplasia of the musculature, Ankl...	ORPHA:2020
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, Cryptorchidism...	OMIM:618393
Lamb-Shaffer Syndrome	Broad nasal tip, Micrognathia, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion borde...	ORPHA:530983
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,...	ORPHA:1703
Joubert Syndrome	Encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Aganglionic megac...	ORPHA:475
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Abnormal cartilage col...	ORPHA:485
Primary Pulmonary Hypoplasia	Epicanthus, Ureteral stenosis, Apnea, Abnormal hemidiaphragm morphology, Neonatal respiratory dis...	ORPHA:2257
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Central apnea, Camptodactyly of finger, Cleft palate, Abnormal...	ORPHA:1617
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Giant Cell Arteritis	Ptosis, Renal insufficiency, Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Diabetes insi...	ORPHA:397
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee...	OMIM:617402
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Renal insufficiency, Proteinuria, Malar prominence, Wide mouth, Large earl...	ORPHA:2715
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Hypoplastic nasal septum, Short philtrum, Lower limb undergrowth, C...	OMIM:186500
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Anteverted nares, Prominen...	ORPHA:2318
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Downturned corners of mo...	ORPHA:955
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate,...	ORPHA:2306
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Aarskog-Scott Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of ...	ORPHA:915
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Ataxia, Hamartoma of tongue, Apnea, Low-set ears, Oculomotor apraxia, Ret...	OMIM:617563
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Apnea, Micrognathia, Abnormal pyramidal sign, Hypertonia, High palate...	OMIM:617527
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Renal hypoplasia...	ORPHA:2863
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Prolonged bleeding time, Proteinuria, Myoc...	ORPHA:182050
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, H...	ORPHA:990
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac...	OMIM:617114
Hypophosphatasia, Childhood	Premature loss of primary teeth, Bowing of the legs, Carious teeth, Craniosynostosis, Myopathy, R...	OMIM:241510
Atelosteogenesis, Type I	Encephalocele, Depressed nasal bridge, Micrognathia, Short neck, Cryptorchidism, Thoracic platysp...	OMIM:108720
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Carious teeth, Splenomegaly, Depressed nasal ridge, Reduced...	ORPHA:742
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus ex...	ORPHA:2990
Treacher Collins Syndrome 2	Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Cleft palate, Fusion of middl...	OMIM:613717
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Apnea, Promi...	ORPHA:85201
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal...	ORPHA:101110
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Cutis Laxa, Autosomal Recessive, Type Iid	Entropion, Bilateral cryptorchidism, Congestive heart failure, Bulbous nose, Pneumothorax, Wide n...	OMIM:617403
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Lateral Meningocele Syndrome	Telecanthus, Neurogenic bladder, Posteriorly rotated ears, Decreased muscle mass, Dental crowding...	OMIM:130720
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Cerebral palsy, Epistaxis, Nausea, Spastic paraplegia, Nephrolithiasis, Abno...	ORPHA:369929
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo...	ORPHA:2635
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Increased muscle lipid content, Knee flexion contracture, High palat...	OMIM:608836
Tetraamelia Syndrome 1	Renal agenesis, Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Micr...	OMIM:273395
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h...	OMIM:620285
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormal...	ORPHA:1695
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, H...	ORPHA:261120
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Hydrocephalus, Wi...	OMIM:613603
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Tenorio Syndrome	Mandibular prognathia, Wide nose, Telecanthus, Anteverted nares, Cerebral palsy, Apnea, Raynaud p...	OMIM:616260
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, ...	OMIM:616367
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Widely spaced teeth, Cough, Chronic otitis media, Microdontia, Thick nasal alae...	ORPHA:579
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Treacher Collins Syndrome 4	Conductive hearing impairment	OMIM:618939
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Tr...	OMIM:277720
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased propor...	ORPHA:83471
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Vertebral fusion, Down-slo...	OMIM:109400
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Palpebral edema, Apnea, Micrognathia, Cryptorchidism, Optic nerve dysplasia, Cleft pa...	OMIM:214110
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, Epicanthus, Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, U...	OMIM:248910
Brooke-Spiegler Syndrome	Abnormal bleeding, Facial palsy, Hearing impairment, Salivary gland neoplasm, Abnormality of the ...	ORPHA:79493
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia, Spasticit...	OMIM:616277
Intellectual Developmental Disorder, Autosomal Dominant 26	Micrognathia, Deep philtrum, Hypertonia, Short philtrum, Depressed nasal bridge, Anteverted nares...	OMIM:615834
Charge Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Hem...	OMIM:214800
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Recurrent fractures, Limitation of joint mobility, Abnormal rib morpholo...	ORPHA:1486
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft palate, Ha...	ORPHA:261197
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Abnormality of the max...	ORPHA:141099
Thakker-Donnai Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Congenital diaphragmatic...	ORPHA:1780
Aredyld Syndrome	Low-set, posteriorly rotated ears, Smooth philtrum, Mandibular prognathia, Craniofacial hyperosto...	ORPHA:1133
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Micrognathia, Opisthotonus, Neonatal death, Depressed nasal bridge, ...	OMIM:608013
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Primary Familial Polycythemia	Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Dyspnea, Vertigo, Cough, Polycythemia, Exertio...	ORPHA:90042
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the...	ORPHA:776
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Prolonged bleeding after dental extract...	OMIM:202400
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Pro...	ORPHA:1454
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Burn-Mckeown Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Conductive hearing impairmen...	OMIM:608572
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ...	ORPHA:2750
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia, Generalized amyotrophy	OMIM:616540
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Kinetic tremor, Sensorineural hearing impairment, Renal hypoplasia, Ga...	OMIM:616817
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microgn...	ORPHA:1387
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Tracheobronchomalacia, Protruding ear, Micr...	OMIM:613458
Waardenburg Syndrome, Type 2E	Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, D...	OMIM:611584
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Anteverted nares, Micromelia, Abnormality of the ureter, High ...	ORPHA:1035
Autosomal Dominant Spastic Paraplegia Type 3	Distal lower limb amyotrophy, Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Br...	ORPHA:100984
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Cryptorchidism, Osteoarthritis, General...	OMIM:618000
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Anteverted nares, Broad...	OMIM:615583
Familial Hypofibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:98881
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, High, narrow palate, Ul...	ORPHA:1101
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Recurrent otitis media	OMIM:616726
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Encephalocele, Anteverted nares, Prominent nasal bridge, Highl...	ORPHA:220493
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Prot...	ORPHA:1495
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Broad nasal tip, ...	ORPHA:480907
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Urban-Rogers-Meyer Syndrome	Epicanthus, Hypoplasia of penis, Abnormality of the philtrum, Prominent nasal bridge, Camptodacty...	ORPHA:3409
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Grant Syndrome	Joint dislocation, Bowing of the long bones, Open bite, Abnormal cortical bone morphology, Abnorm...	ORPHA:2097
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin...	OMIM:168000
Adamantinoma	Hypercalcemia	ORPHA:55881
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hearing impairment	OMIM:615996
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Choanal stenosis,...	OMIM:101200
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Fetal pyelectasis, Nephrocalcinosis, Aplasi...	ORPHA:264450
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog...	ORPHA:3068
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Narrow pal...	ORPHA:207
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Abnormal oral cavity morphology, Chronic otitis m...	ORPHA:900
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Spondylocostal Dysostosis 5	Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs	OMIM:122600
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Micrognathia, Glossoptosis, Small earlobe, Low-set, posterio...	ORPHA:2886
Catel-Manzke Syndrome	Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metacarpal, Cleft upper lip, Cryptorc...	OMIM:616145
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Full cheeks, ...	ORPHA:261295
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Split-Hand/Foot Malformation 3	Abnormal pinna morphology, Renal hypoplasia	OMIM:246560
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, Tremor, Lobulated tongue, High...	ORPHA:2754
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Purpura, Ataxia, Epistaxis, ...	ORPHA:33226
Familial Expansile Osteolysis	Conductive hearing impairment	OMIM:174810
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Hadziselimovic Syndrome	Failure to thrive, Posteriorly rotated ears, Renal hypoplasia, Low-set ears	OMIM:612946
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary...	ORPHA:251274
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Ataxia, Portal hyperte...	OMIM:609136
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver...	OMIM:309620
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Proximal amyotrophy, Pect...	OMIM:605355
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Underdeveloped nasal alae, Prominent no...	ORPHA:2471
Cooper-Jabs Syndrome	Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu...	ORPHA:1488
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Spastic tetraparesis, Underdeveloped nasal alae,...	ORPHA:435628
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Perlman Syndrome	Epicanthus, Hypoplasia of penis, Anteverted nares, Posteriorly rotated ears, Nephroblastoma, Micr...	ORPHA:2849
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s...	ORPHA:240103
Ravine Syndrome	Spasticity, Ataxia, Apnea, Abnormal auditory evoked potentials	ORPHA:99852
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Multiple small vertebral fractures, Osteoporosis of vertebrae, Platysp...	OMIM:156510
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Epistaxis, Oral ulcer	ORPHA:46488
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Orofaciodigital Syndrome Xvii	Renal hypoplasia, Low-set ears, Decreased body weight, Micropenis, Hearing impairment	OMIM:617926
Typhoid	Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Diarrhea, H...	ORPHA:99745
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Midface retrus...	OMIM:618737
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Ventricular tachyca...	OMIM:212138
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Tented upper lip vermilion, Apne...	ORPHA:521426
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Gastroesop...	ORPHA:254892
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,...	OMIM:618388
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E...	OMIM:613885
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he...	OMIM:617519
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of...	ORPHA:90103
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Tremor, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by ill...	OMIM:312170
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Abnormality of the nose, Tremor, Rigidity, Hyperhidrosis, Bradykinesia, Hypomimic...	ORPHA:70594
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:133705
Lowry-Maclean Syndrome	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy, Spasticity, Flexion contracture, Broad nasal tip	ORPHA:500545
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive manner...	OMIM:618718
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Protr...	ORPHA:85279
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Low-set ears	OMIM:617661
Wyburn-Mason Syndrome	Cerebral palsy, Epistaxis, Cerebral hemorrhage, Subarachnoid hemorrhage, Hemiparesis, Gingival bl...	ORPHA:53719
Kbg Syndrome	Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Anteverted nares...	ORPHA:2332
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorc...	ORPHA:1340
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Abnormal pinna morphology, Neonatal insulin-dependent diabetes mellitus, Abno...	ORPHA:556955
8Q22.1 Microdeletion Syndrome	Underfolded helix, Camptodactyly of finger, Abnormal pinna morphology, Abnormality of the dentiti...	ORPHA:178303
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo...	OMIM:602196
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Spastic tetraparesis, Underdeveloped nasal alae,...	OMIM:614098
Myasthenic Syndrome, Congenital, 10	Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy, Tongue atrophy	OMIM:254300
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypospadias, Dental crowding,...	OMIM:615761
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Unilateral renal agenesis, Short neck,...	OMIM:118100
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Apnea, Micrognathia, Tachypnea, Abnormal optic disc morphology, Gastroes...	ORPHA:397715
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Deep philtrum, High palate,...	OMIM:617137
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Nausea, Abnormal circulating renin, Intracranial hemorrhage, Hype...	ORPHA:403
Congenital Factor Xiii Deficiency	Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ...	ORPHA:331
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ...	ORPHA:466722
Charge Syndrome	Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Abnormality of bone min...	ORPHA:138
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged...	ORPHA:849
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,...	ORPHA:169189
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy...	ORPHA:85447
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Protruding ear, Knee f...	OMIM:614976
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Depressed nasal bridge, Anteverted nares, Hypospadias, Spastic tetraparesis, Renal ag...	ORPHA:171839
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned corners of mouth, Short...	ORPHA:1507
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/Hypoplasia of the maxi...	ORPHA:40366
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Spinocerebellar Ataxia, Autosomal Recessive 32	Ptosis, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Abnormal...	OMIM:619862
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nar...	OMIM:614744
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Cle...	OMIM:213980
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment	OMIM:615706
Myotonia With Skeletal Abnormalities And Mental Retardation	Irregular femoral epiphysis, Pectus carinatum, Skeletal muscle hypertrophy, Bell-shaped thorax, G...	OMIM:255710
Renpenning Syndrome	Skeletal muscle atrophy, Macrodontia, Joint stiffness, Pectus excavatum, High, narrow palate, Abn...	ORPHA:3242
Microphthalmia, Syndromic 12	Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Cryptorch...	OMIM:615524
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Depressed nasal bridge, Sensorineural hearing impairment, Lobar holoprosencep...	OMIM:618500
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment	ORPHA:3246
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Ab...	ORPHA:166100
Aicardi Syndrome	Intestinal polyposis, Block vertebrae, Hiatus hernia, Cleft upper lip, Malabsorption, Missing rib...	ORPHA:50
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia	ORPHA:721
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Vesicoureteral reflux, Conductive hearing impairment, Joint laxi...	OMIM:157800
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:141400
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ...	ORPHA:90653
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Micrognathia, Splenomegaly, Abnormali...	ORPHA:1046
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeve...	ORPHA:920
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn...	ORPHA:1801
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han...	OMIM:268310
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Slender nose, Skeletal muscle atrophy, Thin upper lip ...	OMIM:615419
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Ab...	ORPHA:404
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Ragged-red muscle fibers, Hand tremor, Gait ataxia, Muscle fiber necrosi...	OMIM:157640
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl...	OMIM:273800
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Myoclonus, Intractable, Neonatal	Optic disc pallor, Apnea, Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability in muscl...	OMIM:617235
Purpura Simplex	Ptosis, Epistaxis, Menorrhagia, Bruising susceptibility, Purpura	OMIM:179000
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ...	ORPHA:1520
Poliomyelitis	Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Abnormal skeletal muscle morp...	ORPHA:2912
Heart Defects-Limb Shortening Syndrome	Death in infancy, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest	ORPHA:1354
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Prominent...	ORPHA:1307
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Congestive heart failure, Thrombocytopenia, Splenomegaly, Enlarged kid...	OMIM:617303
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, High palate, Gastroesophageal ...	OMIM:300373
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, EEG with generalized epileptiform discharges	OMIM:617976
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Conductive hearing impairment, ...	ORPHA:2363
Hypomandibular Faciocranial Dysostosis	Death in infancy, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosy...	ORPHA:1790
Rubinstein-Taybi Syndrome 2	Prominent nose, Micrognathia, High palate, Posterior helix pit, Highly arched eyebrow, Talon cusp...	OMIM:613684
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Autism Spectrum Disorder Due To Auts2 Deficiency	Micrognathia, Congenital contracture, Hypertonia, Short philtrum, Joint contracture of the 5th fi...	ORPHA:352490
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Lymphatic Malformation 13	Unilateral deafness	OMIM:620244
Factor V And Factor Viii, Combined Deficiency Of, 2	Menorrhagia, Epistaxis, Persistent bleeding after trauma	OMIM:613625
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ...	ORPHA:464329
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Abnormal f...	ORPHA:93262
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy...	OMIM:236500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cryptorchidism, Cleft palate, Pro...	ORPHA:1166
Endocardial Fibroelastosis	Low-set, posteriorly rotated ears, Telecanthus, Hypoplasia of penis, Micrognathia, Cryptorchidism...	ORPHA:2022
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:129900
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili...	OMIM:609821
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,...	OMIM:608978
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	ORPHA:2213
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose,...	OMIM:613604
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Aplasia/Hypoplasia of the patella, Sensorineural...	ORPHA:3320
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Apnea, Abnormal pyramidal sign, Optic atrophy...	OMIM:618228
6Q16 Microdeletion Syndrome	Abnormal ear morphology, Depressed nasal bridge, Anteverted nares, Micrognathia, Almond-shaped pa...	ORPHA:171829
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asple...	OMIM:185070
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness	ORPHA:1010
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Wildervanck Syndrome	Fused cervical vertebrae, Preauricular skin tag, Abnormality of the outer ear, Hearing impairment	OMIM:314600
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment	OMIM:132450
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Optic atrophy,...	OMIM:617595
Cornelia De Lange Syndrome 5	Micrognathia, Synophrys, Downturned corners of mouth, High palate, Widely spaced teeth, Gastroeso...	OMIM:300882
Koolen-De Vries Syndrome	Ureteral duplication, High, narrow palate, Protruding ear, Vertebral segmentation defect, Vesicou...	ORPHA:96169
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim...	OMIM:300911
Nabais Sa-De Vries Syndrome, Type 2	Prominent nose, Micrognathia, Chorea, Protruding ear, High palate, Gastroesophageal reflux, Hypot...	OMIM:618829
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Rectal prolapse, Short metatarsal, High palate, Gastroesophageal reflux, Short m...	OMIM:617157
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:604292
Ohdo Syndrome	Ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Sparse e...	OMIM:249620
Folinic Acid-Responsive Seizures	Respiratory distress, Ataxia, Apnea, Spastic tetraparesis, Sensorineural hearing impairment, Chor...	ORPHA:79097
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas...	OMIM:183050
Otofaciocervical Syndrome	Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive...	ORPHA:2792
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ...	ORPHA:52368
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia	ORPHA:93945
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphad...	OMIM:614034
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Parkinsonism with ...	ORPHA:240085
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemip...	ORPHA:71277
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, High palate, Gastroesophageal reflux, Depre...	OMIM:613792
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Lethal Congenital Contracture Syndrome 5	Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Thin ribs, Con...	OMIM:615368
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Jejunal atresia, Apnea, High, narrow palate, Narrow palate, Darwin tubercle of helix, Myoclonus, ...	OMIM:612949
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231169
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Cryptorchidism, Cleft lip, Kyphosis, Limited pronation/supination...	ORPHA:1724
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ...	ORPHA:474
Spastic Paraplegia 78, Autosomal Recessive	Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia...	OMIM:617225
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Osteolysis, Midface ret...	ORPHA:2776
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy,...	ORPHA:166108
Cln3 Disease	Vacuolated lymphocytes, T-wave inversion, Bradycardia, Left ventricular hypertrophy, Urinary blad...	ORPHA:228346
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Epicanthus, Posteriorly rotated ears, Dental crowding, Abnormality of ...	ORPHA:2789
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow or...	OMIM:268300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Renal hypoplasia/apla...	ORPHA:1770
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Primary Release Disorder Of Platelets	Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia	OMIM:176630
Developmental And Epileptic Encephalopathy 61	Apnea, Optic atrophy, Spasticity, High palate, Thick vermilion border, Open mouth	OMIM:617933
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, Self-injurious behavior, Abnormal...	OMIM:618914
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Micromelia, Micrognathia, Hypertonia, High palate, Wrist flexion ...	ORPHA:800
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy, High palate, N...	OMIM:300219
Spinocerebellar Ataxia 17	Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:607136
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Myasthenic Syndrome, Congenital, 16	Apnea, Periodic paralysis, Bilateral ptosis, High palate, Ptosis	OMIM:614198
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ...	OMIM:601455
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Pontocerebellar Hypoplasia Type 4	Central apnea, Respiratory failure requiring assisted ventilation, Micrognathia, Hypertonia, Myoc...	ORPHA:166063
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa...	OMIM:128230
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bri...	ORPHA:989
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, Abnor...	ORPHA:98755
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, ...	OMIM:102700
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Ina...	ORPHA:79330
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines...	OMIM:213600
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Telecanthus, Posteriorly rotated ears, Anteverted nares, Camptodacty...	ORPHA:2462
Ramon Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:3019
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Limbal dermoid, Cleft lip, ...	ORPHA:398156
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Stapes ankylosis, Wide nose, Papilledema, Depressed nasal bridge, Conv...	OMIM:614188
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F...	ORPHA:171430
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Central diaphragmatic hernia, ...	OMIM:614608
Marshall-Smith Syndrome	Irregular dentition, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossopt...	OMIM:602535
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery...	ORPHA:324636
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Ankle swelling, Congenital diaphragmatic hernia, Mi...	OMIM:166300
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Micrognathia, Synophrys, Downturned corners of mouth, Short philtrum,...	OMIM:619320
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Shoulder dislocation, Choanal stenosis, Vesicoureteral reflux, S...	OMIM:607323
Bresek Syndrome	Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Renal hypoplasia, Protr...	ORPHA:85284
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali...	ORPHA:98914
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali...	ORPHA:590
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Wide nasal bridge, Short phil...	ORPHA:1516
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia, Mu...	OMIM:613869
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Urinary incontinence, Hearing impairment, Parkinsonism, Action t...	OMIM:300623
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Conductive hearing impairment, Low-set ears	OMIM:616910
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Joubert Syndrome 1	Central apnea, Optic disc pallor, Epicanthus, Hemifacial spasm, Anteverted nares, Ataxia, Highly ...	OMIM:213300
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Synophrys, Microtia, E...	ORPHA:357175
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper mot...	OMIM:500001
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Urinary urgency, Bradykine...	OMIM:618418
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Cleft Velum	Recurrent otitis media, Conductive hearing impairment	ORPHA:99772
Wilson-Turner Syndrome	Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Broad nasal tip, Micro...	ORPHA:3459
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Recurrent pharyngitis, Chorea, Aplasia/Hypoplasia of the abdo...	ORPHA:3099
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Apnea, Vomiting, Myoclonus, Death in childhood, Lethargy, Spasticity, Ptosis	OMIM:618225
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abnormal rib mo...	ORPHA:93351
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Urinary incontinence, Optic atrophy, Limb ataxia, Gait ataxia, Ur...	ORPHA:98768
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear	OMIM:618302
Retinitis Pigmentosa	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy	ORPHA:791
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Depressed nasal bridge, Elbow dislocation, Hypoplastic frontal si...	ORPHA:90650
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Synophrys, Downturned ...	OMIM:615162
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Thin upper lip vermilion, Apnea, Respiratory insufficiency, Upslanted palpebral fissure, Hyperton...	OMIM:617290
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Wide nose, Apnea, Vomiting, Sensorineural hearing impairment	ORPHA:137754
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, R...	OMIM:613686
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Diarrhea, Cardiore...	ORPHA:99828
Severe Neonatal-Onset Encephalopathy With Microcephaly	Apnea, Involuntary movements, Respiratory insufficiency, High palate, Gastroesophageal reflux, Sp...	ORPHA:209370
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Machado-Joseph Disease	Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Dyspha...	OMIM:109150
Dominant Beta-Thalassemia	Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentition, Osteoporos...	ORPHA:231226
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb...	OMIM:113000
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge...	OMIM:121300
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, High palate, Conductive hearing impairment, ...	OMIM:201000
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Bilateral conductive hearing impairment, Atresia of the external auditory canal	ORPHA:2010
Gillessen-Kaesbach-Nishimura Syndrome	Posteriorly rotated ears, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Micrognathi...	OMIM:263210
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th...	ORPHA:508498
Trisomy 20P	Micrognathia, Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, ...	ORPHA:261318
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnor...	ORPHA:2671
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Scapular winging, Congenital hip dislocation, Wormian bone...	OMIM:278250
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card...	OMIM:602390
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Walker-Warburg Syndrome	Skeletal muscle atrophy, Submucous cleft hard palate, Cleft palate, Muscular dystrophy, Metatarsu...	ORPHA:899
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Decreased response to growth hormone stimulation test, Unilateral renal agenesis,...	OMIM:609757
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Treacher Collins Syndrome 1	Sparse lower eyelashes, Choanal atresia, Lacrimal duct stenosis, Cleft soft palate, Micrognathia,...	OMIM:154500
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Constipation, Parkinsonism with ...	OMIM:616710
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Anteverted na...	OMIM:618342
Distal Duplication 6P	Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormal antitragus morphology, Abnormality...	ORPHA:1745
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, Facia...	OMIM:218000
Relapsing Fever	Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Diarrhea...	ORPHA:91547
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Mucopolysaccharidosis Type 3	Adenoiditis, Synophrys, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, Hyp...	ORPHA:581
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Anteverted nares, Joint hypermobility, Hearing ...	ORPHA:481152
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Prominent nose, Micrognathia, Flexion contracture, ...	ORPHA:261290
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Congenital sensorineural hearing impairment, Mixed hearing impairment	ORPHA:2698
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral...	ORPHA:628
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Wide nasal bridge, Short middle phalanx of finger, Low...	OMIM:612626
Chung-Jansen Syndrome	Epicanthus, Anteverted nares, Micrognathia, Cryptorchidism, Synophrys, Upslanted palpebral fissur...	OMIM:617991
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Micrognathia, Knee flexion contracture, Upslanted palpebral fissure,...	OMIM:619694
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnormal d...	ORPHA:2916
Alopecia Antibody Deficiency	Conductive hearing impairment	ORPHA:1006
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:619267
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment	OMIM:618497
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Nausea, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231625
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Ecchymosis, Bruising su...	OMIM:614201
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:619473
Fetal Minoxidil Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Depressed nasal bridge, Micrognathia	ORPHA:1918
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte...	OMIM:615888
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Abnormality of the philtrum, Abnormality o...	ORPHA:276422
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi...	ORPHA:377
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol...	OMIM:619092
Variant Abeta2M Amyloidosis	Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Abnormal skeletal musc...	ORPHA:314652
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Benign Familial Neonatal-Infantile Seizures	Apnea, Vertigo, Slurred speech, Episodic ataxia, Nausea	ORPHA:140927
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:300946
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica...	ORPHA:3456
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres...	ORPHA:1959
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra...	ORPHA:521406
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Apnea, Micrognathia, Flexion contracture, Dysmetria, Gastroesophagea...	ORPHA:98889
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Facial palsy	OMIM:614688
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Anosmia, Spastic...	OMIM:606693
Juvenile Nasopharyngeal Angiofibroma	Nasal congestion, Juvenile colonic polyposis, Epistaxis	ORPHA:289596
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Short philtrum, Gastr...	ORPHA:819
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Apnea, Sensorineural hearing impairment, Opisthotonus, Hypertonia, Hyper...	OMIM:616896
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Inappropriate laughter, Bruxism, Abnormal repetiti...	OMIM:619150
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem...	OMIM:619897
Otosclerosis 10	Otosclerosis	OMIM:615589
Distal Monosomy 7Q36	Hypoplasia of penis, Micrognathia, Cryptorchidism, Bulbous nose, Non-midline cleft lip, Optic atr...	ORPHA:1636
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spas...	OMIM:300423
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia	OMIM:605909
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:601390
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Apnea, Clonus, Micrognathia, Rigidity, Babinski sign, Optic atrophy, Hypertonia...	OMIM:614498
Multiple System Atrophy	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abnormal pyramidal s...	ORPHA:102
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Bilateral renal hy...	OMIM:619695
Moebius Syndrome	Respiratory distress, Abnormal nasopharynx morphology, Micrognathia, Congenital fibrosis of extra...	OMIM:157900
Alg9-Cdg	Thin upper lip vermilion, Torticollis, Villous atrophy, Prominent metopic ridge, Delayed cranial ...	ORPHA:79328
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Nausea, Increased urinary potassium, Glucocortocoid-insensitive p...	ORPHA:231580
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Renal hypoplasia, Protruding ear	ORPHA:2256
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:615546
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Limitation of joint mobility, Flexion contractur...	ORPHA:171719
Even-Plus Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Microtia, Renal hypoplasia	OMIM:616854
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Atelosteogenesis, Type Iii	Cervical segmentation defect, Depressed nasal bridge, Cervical kyphosis, Micrognathia, Hypoplasia...	OMIM:108721
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Accel...	ORPHA:950
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limit...	OMIM:121050
Isolated Cleft Lip	Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology	ORPHA:199302
Otopalatodigital Syndrome Type 2	Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Synostosis o...	ORPHA:90652
Mitochondrial Complex I Deficiency, Nuclear Type 5	Ataxia, Apnea, Babinski sign, Optic atrophy, Respiratory insufficiency, Vomiting, Dysphagia, Leth...	OMIM:618226
Coffin-Siris Syndrome 6	Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Micrognathia, High...	OMIM:617808
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Hepatosplenomegaly,...	OMIM:242700
Marden-Walker Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, C...	ORPHA:2461
Familial Afibrinogenemia	Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo...	ORPHA:2260
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:611722
Potocki-Shaffer Syndrome	Epicanthus, Prominent nasal bridge, Nephroblastoma, Underdeveloped nasal alae, Broad nasal tip, M...	ORPHA:52022
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Hyperextensibility of the finger joints, Joint lax...	OMIM:309520
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Abnormal rib...	ORPHA:93267
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Anteverted nares, Apnea, Renal cyst, Multiple renal cysts	OMIM:614883
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Diabetes insipidus, Campt...	ORPHA:391474
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo...	ORPHA:1120
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ...	ORPHA:794
Isolated Atp Synthase Deficiency	Ataxia, Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aci...	ORPHA:254913
Distal Deletion 10P	Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Hearing abnormality, Crypto...	ORPHA:1580
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Low-set ears, Vesicoureteral reflux, Overfolded helix, Failure to thrive, Hydro...	OMIM:613735
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Bohring-Opitz Syndrome	Apnea, Micrognathia, Synophrys, Congenital contracture, Vomiting, Prominent palatine ridges, Low-...	ORPHA:97297
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Posteriorly rotated ears, Unilateral renal agenesis, Renal hypoplasia, Low-set ears, Dysphagia, R...	OMIM:618494
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Enuresis, Co...	OMIM:613670
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cr...	OMIM:613823
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormo...	ORPHA:529962
Gorham-Stout Disease	Osteopenia, Abnormality of the cervical spine, Torticollis, Abnormality of the temporomandibular ...	ORPHA:73
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abnormal pyramidal s...	ORPHA:98933
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Cleft Palate, Deafness, And Oligodontia	Bilateral conductive hearing impairment	OMIM:216300
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Highly arched eyebrow, Hypospadias,...	OMIM:614541
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Multiple System Atrophy, Cerebellar Type	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abnormal pyramidal s...	ORPHA:227510
Christianson Syndrome	Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Macrotia, Abn...	ORPHA:85278
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho...	OMIM:240300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia	ORPHA:210571
Mosaic Variegated Aneuploidy Syndrome	Apnea, Micrognathia, Depressed nasal ridge, Holoprosencephaly, Stomach cancer, Hypothyroidism, Lo...	ORPHA:1052
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Abnormal renal cor...	OMIM:617397
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment	OMIM:607634
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome...	OMIM:105200
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Ogden Syndrome	Apnea, Maternal diabetes, Abnormal eyelid morphology, Micrognathia, Deep philtrum, Ventricular ta...	OMIM:300855
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Dystonia 16	Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr...	OMIM:612067
Lipoyltransferase 1 Deficiency	Lacticaciduria, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyperglutaminuria	OMIM:616299
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Incoordination, Underdeveloped nasal alae, Diastema, Micrognathia, Dental maloc...	ORPHA:436245
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Epicanthus, Prominent nose, Micrognathia, Achalasia, Macrotia	ORPHA:929
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Broad nasal tip, Short neck, Recurrent up...	ORPHA:284180
Frontoocular Syndrome	Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Narrow philtrum, Upsl...	OMIM:605321
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Abnormal pinna morphology, Camptodactyly of finger...	ORPHA:251056
Acrocallosal Syndrome	Abnormal clavicle morphology, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Tripha...	ORPHA:36
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protru...	ORPHA:192
Spinocerebellar Ataxia 2	Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, ...	OMIM:183090
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Failure to thrive in infancy, Small for gestational age...	OMIM:614104
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Anosmia, Single naris, Cleft pa...	ORPHA:2250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Apnea	OMIM:615228
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Missing ribs, Rib f...	OMIM:304050
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Micrognathia, Hypothyroidism, Cryptorchidism, Wide nasal bridge, Renal hypop...	ORPHA:85321
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Ectopic Aldosterone-Producing Tumor	Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal...	ORPHA:231632
Congenital Diaphragmatic Hernia	Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Intestinal malrotation, Congenital diaphr...	ORPHA:2140
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Accelerated skele...	ORPHA:439822
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis i...	OMIM:259440
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve	ORPHA:90117
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Nephr...	OMIM:269920
Beta-Thalassemia Major	Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentition, Osteoporos...	ORPHA:231214
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Ectopic kidney, Cleft upper lip, Micrognathia, Cleft palate, Small thenar eminen...	OMIM:239800
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Thrombocytopenia	OMIM:173590
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorc...	OMIM:613544
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Microtia, Short mandibu...	OMIM:141300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Bradykinesia, Spastic gait	OMIM:619052
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy, Epiphyseal stippling	OMIM:614876
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Synophrys, Hydrocephalus, Respiratory insufficie...	ORPHA:1895
Developmental And Epileptic Encephalopathy 64	Smooth philtrum, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, ...	OMIM:618004
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Hemiatrophy	ORPHA:306669
Stuve-Wiedemann Syndrome 1	Apnea, Micrognathia, Knee flexion contracture, Hyperhidrosis, Smooth tongue, Short tibia, Pursed ...	OMIM:601559
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora...	ORPHA:1436
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Optic atrophy, H...	ORPHA:289560
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Abnormal pinna morphology, M...	OMIM:618291
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia, Hypomimic face	ORPHA:71517
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Wormian bones, Anterior rib cupping, Metaphyseal widening, Flexion contr...	OMIM:300232
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, Truncal a...	OMIM:608636
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Sensorineural hearing impairment, Renal hypoplasia, Incomplete partition o...	OMIM:617660
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Sh...	ORPHA:1752
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos...	OMIM:606612
Combined Oxidative Phosphorylation Deficiency 57	Death in infancy, Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, ...	OMIM:620167
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dysphagia, Hypomimic face	OMIM:128235
Abruzzo-Erickson Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Macrotia	ORPHA:921
Keipert Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Exaggerated cupid's b...	ORPHA:2662
Ciliary Dyskinesia, Primary, 38	Conductive hearing impairment, Chronic otitis media	OMIM:618063
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:782
Mohr Syndrome	Median cleft lip, Depressed nasal bridge, Wormian bones, Accessory oral frenulum, Micrognathia, H...	OMIM:252100
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Chops Syndrome	Anteverted nares, Tracheomalacia, High, narrow palate, Cryptorchidism, Splenomegaly, Vesicoureter...	OMIM:616368
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Epicanthus, Hypospadias, Microcytic anemia, Micrognathia, Cryp...	ORPHA:98791
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Prominent nasal bridge, Decreased res...	OMIM:216550
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Smooth philtrum, Posteriorly rotated ears, Anteverted nares, Micrognathia, Synophrys, Wide nasal ...	OMIM:602562
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Tonne-Kalscheuer Syndrome	Decreased testicular size, Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, ...	OMIM:300978
Pontocerebellar Hypoplasia, Type 1B	Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations	OMIM:614678
Birk-Aharoni Syndrome	Duplicated collecting system, Macrocytic anemia, Micrognathia, Cryptorchidism, Chorea, Spastic te...	OMIM:620071
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb...	OMIM:178110
Phosphoserine Aminotransferase Deficiency	Death in infancy, Hypertonia, Apnea, Myoclonus	OMIM:610992
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, High palate, ...	OMIM:300676
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart failure, Splenomegaly...	OMIM:235200
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Joubert Syndrome 2	Encephalocele, Central apnea, Renal insufficiency, Depressed nasal bridge, Ataxia, Episodic tachy...	OMIM:608091
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebrow, Und...	ORPHA:2083
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears	OMIM:618672
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Depressed nasal bridge, Urinary incontinence, Bowel incontin...	OMIM:616482
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ...	OMIM:609029
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment	ORPHA:1997
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Tongue atrophy, Anteverted nares, Congenital hip dislocation, Limited elbo...	OMIM:615065
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Oligodontia, Platy...	OMIM:601216
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short neck, Hyposegmentation of neutrophil nuclei, Delayed skeletal maturation, Thin vermilion bo...	OMIM:614800
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, Tremor, High, narrow palate, Synophrys, High palate, Short philtru...	OMIM:619312
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Cranios...	ORPHA:380
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Clinodactyly...	OMIM:601163
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Upper limb muscle weakness, Tongue atrophy, Lower limb muscle weakness, Foot dorsiflexor weakness	OMIM:616155
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Xq28 (MECP2) duplication	Macrotia, Functional abnormality of the bladder, Gait ataxia, Dysphagia, Failure to thrive, Abnor...	DECIPHER:45
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia, Decreased body weight	OMIM:614063
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor...	OMIM:239500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Epicanthus, Death in infancy, Sparse eyelashes, Depressed nasal bridge, Proteinuria,...	OMIM:616901
Tetraploidy	Convex nasal ridge, Renal hypoplasia/aplasia, Micrognathia, Cleft palate, Aplasia/Hypoplasia of t...	ORPHA:3305
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Apnea, Micrognathia, Depressed nasal ridge, Patellar h...	OMIM:114290
Lethal Congenital Contracture Syndrome 10	Torticollis, Thoracic scoliosis, Overlapping fingers, Stiff neck, Narrow palate, Femoral bowing, ...	OMIM:617022
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Paroxysmal vertigo, Cranial nerve compression...	ORPHA:94080
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diarrhea, Wide nasal bridge, Spas...	OMIM:300215
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell...	ORPHA:95433
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Conjunctiviti...	ORPHA:99827
Fetal Trimethadione Syndrome	Epicanthus, Depressed nasal bridge, Hypospadias, Micrognathia, Synophrys, Overfolded helix, High ...	ORPHA:1913
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypogonad...	OMIM:613313
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop...	ORPHA:363417
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea, Dental crowding, Spastic paraplegia, Dysmetria, Gait ataxia, Gastroesophageal refl...	OMIM:615031
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Cryptorchidism, Cupped ear, Fl...	OMIM:617159
Huntington Disease	Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Chorea, Babinski sign, Clumsi...	ORPHA:399
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Wide nose, Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Cari...	OMIM:272430
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal stenosis, Micropenis, Pancre...	ORPHA:83617
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op...	ORPHA:1215
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614009
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Vomitin...	OMIM:252010
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Vesicoureteral reflux, Hypospadias, Exaggerated cupid's bow, Cryptorchidism, Short ...	OMIM:618659
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju...	ORPHA:382
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Beta-Propeller Protein-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous system ph...	ORPHA:329284
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal pinna morphology, Dental crowding, Prominent nose, Micrognathia...	ORPHA:228410
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop...	ORPHA:2643
1P36 Deletion Syndrome	11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Rib ...	ORPHA:1606
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Vertebral segmentation defect, Vertebral fusion, Scapular winging, Anteve...	OMIM:272460
Spinocerebellar Ataxia 10	Incoordination, Urinary incontinence, Decreased nerve conduction velocity, Babinski sign, Abnorma...	OMIM:603516
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Sensorineural hearing impairment, Abnormal salivary gland morphology	ORPHA:3225
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Microphal...	ORPHA:94065
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia	ORPHA:141152
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia, Hypomimic face	OMIM:618824
Al Amyloidosis	Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormal salivary gland morphology, Abnorma...	ORPHA:85443
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Cupped ear, Microtia, Conductive hearing impairment, Abnormali...	ORPHA:246
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Micrognathia, Flexion contracture, High palate, Gastro...	OMIM:618186
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Vesicoureteral reflux, Genu varum, Death in infancy, Antevert...	OMIM:274000
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency, Lower limb spasticity, Bradykinesia	OMIM:618878
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Williams Syndrome	Osteopenia, Hypoplasia of penis, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bo...	ORPHA:904
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Crouzon Syndrome	Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Sagittal craniosynosto...	OMIM:123500
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Protruding ear, High palate, Conductive hearing impairment, Short...	ORPHA:2751
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Kbg Syndrome	Short palm, Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Rib fusion, Cu...	OMIM:148050
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia	ORPHA:93950
Codas Syndrome	Delayed eruption of teeth, Epicanthus, Hydroureter, Depressed nasal bridge, Anteverted nares, Abn...	ORPHA:1458
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ...	OMIM:614072
Trisomy 18P	Telecanthus, Abnormal pinna morphology, Facial palsy, Highly arched eyebrow, Underdeveloped nasal...	ORPHA:1715
Pontocerebellar Hypoplasia, Type 11	Decreased body weight, Ataxia, Limb ataxia, Self-injurious behavior, Attention deficit hyperactiv...	OMIM:617695
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial ossification, A...	OMIM:618265
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo...	ORPHA:340
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
22Q11.2 Duplication Syndrome	Wide nose, Epicanthus, Hearing impairment, Micrognathia, Urethral stenosis, Depressed nasal ridge...	ORPHA:1727
Parenti-Mignot Neurodevelopmental Syndrome	Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Synophrys, Cupped ear...	OMIM:619873
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Oligodontia, High palate, Narrow chest, Broad ribs, Premature...	OMIM:224300
Aromatic L-Amino Acid Decarboxylase Deficiency	Ptosis, Torticollis, Exaggerated startle response, Apnea, Diarrhea, Babinski sign, Limb tremor, C...	OMIM:608643
Necrotizing Enterocolitis	Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropeni...	ORPHA:391673
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Prominent...	ORPHA:363528
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Hype...	ORPHA:238455
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor...	OMIM:305400
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo...	ORPHA:314632
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation	OMIM:614100
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Short neck, Vesicoureteral reflux, Horsesh...	OMIM:609053
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ...	OMIM:612098
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormality of the philtrum, Arachnodact...	ORPHA:280
Van Bogaert-Hozay Syndrome	Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Tooth malposition, Distal ulnar ...	OMIM:277150
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Small hand, Bradykinesia, Ankle clonus, Short foot, Hypertonia, ...	OMIM:617435
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Sensorineural hearing impairment, Obesity, Renal hypoplasia	ORPHA:464288
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Micrognathia, Flexion contracture, Hypertonia, High palate, Gastroesophageal reflux, Pursed lips,...	ORPHA:562528
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Nablus Mask-Like Facial Syndrome	Short neck, Hypoplasia of the maxilla, High palate, Small earlobe, Micropenis, Anteverted nares, ...	OMIM:608156
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hyd...	OMIM:601499
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Abn...	OMIM:179613
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Elevated circu...	OMIM:101800
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Prominent nasal bridge, Micrognathia, Cryptorchidism, Synophrys, Horseshoe kidney, Orofacial clef...	ORPHA:502434
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia	ORPHA:306692
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathia, Abnormality of the splee...	ORPHA:1834
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Neon...	ORPHA:79345
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Intestinal malrotation, Underdeveloped nasal alae, Micrognathia, Deep ...	ORPHA:77300
Bleeding Disorder In Hemophilia A Carriers	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed...	ORPHA:177926
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Dental crowding, Thorac...	ORPHA:313892
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation,...	ORPHA:2958
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Broad nasal t...	OMIM:620157
Hemophilia B	Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after surgery, Join...	ORPHA:98879
Skraban-Deardorff Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's bow, Cleft palate, Hyperpl...	OMIM:617616
Ablepharon-Macrostomia Syndrome	Microtia, third degree, Abnormal nasal morphology, Microtia, first degree, Anteriorly placed anus...	OMIM:200110
Attenuated Chédiak-Higashi Syndrome	Incoordination, Epistaxis, Hypertonia, Abnormality of extrapyramidal motor function, Gingival ble...	ORPHA:352723
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Bernard-Soulier Syndrome	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gastrointestinal hemorrhage, Partially dupli...	ORPHA:274
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Xerostomi...	ORPHA:1896
Hypophosphatasia, Infantile	Death in infancy, Elevated urine pyrophosphate, Apnea, Micromelia, Abnormality of the dentition, ...	OMIM:241500
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Joubert Syndrome 7	Encephalocele, Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disea...	OMIM:611560
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Large earlobe, Cupped ear, Unilateral renal hypoplasia	OMIM:619955
Cebalid Syndrome	Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Posteriorly rotated ea...	OMIM:618774
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor...	ORPHA:2075
Fraser Syndrome 2	Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa...	OMIM:617666
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Congenital diaphra...	ORPHA:1915
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D...	OMIM:618317
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tracheomalacia, Micrognath...	ORPHA:513456
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Me...	OMIM:276700
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o...	ORPHA:2475
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Micrognathia, Flexion contracture, Patellar hypoplasia, Protruding ear, Hypogonadism, Macrotia, C...	OMIM:251240
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Progressive flexion contractures, Ataxia, Parkinsonism, Postural tremor, Rigidity, B...	ORPHA:98808
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf...	OMIM:620107
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl...	ORPHA:1647
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Abnormal pinna morphology, Renal agenesis, Unilateral renal agenesis, Ectopi...	OMIM:617641
Axial Spondylometaphyseal Dysplasia	Osteopenia, Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Cox...	ORPHA:168549
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis	OMIM:615643
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,...	ORPHA:615
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow...	ORPHA:93946
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ...	OMIM:227500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Tremor, Large fleshy ears, C...	OMIM:614080
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Hypomimic face, Bradykinesi...	OMIM:615528
Epistaxis, Hereditary	Epistaxis	OMIM:132500
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption	OMIM:152800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Mandibular prognathia, Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia...	ORPHA:3082
Zechi-Ceide Syndrome	Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin...	ORPHA:217017
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment	ORPHA:1861
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism, Apnea, Episodic tachypnea,...	ORPHA:79264
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Telecanthus, Anteverted nares, Hypospadias, Aganglionic me...	ORPHA:3339
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Biotinidase Deficiency	Ataxia, Apnea, Splenomegaly, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Diarrhea...	OMIM:253260
Orofaciodigital Syndrome Iii	Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot...	OMIM:258850
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Recurrent upper respiratory tract inf...	ORPHA:225147
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab...	ORPHA:436
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosen...	OMIM:202650
Wiedemann-Steiner Syndrome	Micrognathia, Synophrys, High palate, Brow ptosis, Exaggerated cupid's bow, Highly arched eyebrow...	OMIM:605130
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Hypospadias, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Obsessive-compu...	ORPHA:544254
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl...	OMIM:612840
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe...	ORPHA:17
Recon Progeroid Syndrome	Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Joint laxity, Anteverted...	OMIM:620370
Pallister-Hall-Like Syndrome	Death in infancy, Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Micrognathia...	OMIM:241800
Leukodystrophy, Hypomyelinating, 4	Apnea, Head titubation, Babinski sign, Flexion contracture, Spastic paraplegia, Choreoathetosis, ...	OMIM:612233
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Pectus carinatum,...	OMIM:612921
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Epicanthus, Prominent nasal bridge, Malabso...	ORPHA:1225
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr...	ORPHA:251282
Non-Distal Duplication 13Q	Abnormality of the dentition, Abnormal eyelash morphology, Cryptorchidism, Synophrys, Aplasia/Hyp...	ORPHA:1702
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Joubert Syndrome 23	Sensorineural hearing impairment, Tachypnea, Apnea	OMIM:616490
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, High, narrow palate, Conduct...	ORPHA:2980
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnorm...	OMIM:618504
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy, Hypertrophic cardiomyopathy, Optic atrophy, Apnea	OMIM:618236
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Antegonial no...	OMIM:170390
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Vesicourete...	OMIM:614261
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic girdle bone ...	ORPHA:2928
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Esophageal varix, Ecchymosis, Pet...	OMIM:619463
Zaki Syndrome	Wide nose, Sacral dimple, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Cupped...	OMIM:619648
Pancreatic And Cerebellar Agenesis	Death in infancy, Diabetes mellitus, Abnormal pinna morphology, Optic nerve hypoplasia, Apnea, Fl...	OMIM:609069
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex...	OMIM:608257
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca...	OMIM:608800
Charlie M Syndrome	Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh...	ORPHA:1406
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Synophrys, Short philtrum, Gastroesophageal reflux, Long philtrum, Wide nasal bridg...	OMIM:620250
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the upper urinary tract, Micromelia, Abnormality of the urethra, Micrognathia, Cle...	ORPHA:2145
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Bilateral ptosis, Babinski sign, Abnormal pyrami...	ORPHA:97349
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal ti...	OMIM:300602
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati...	ORPHA:96170
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypoplasia of the max...	OMIM:106260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of...	ORPHA:79259
Kagami-Ogata Syndrome	Anteverted nares, Diastasis recti, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill...	OMIM:608149
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Temple Syndrome	Decreased testicular size, Wide nose, Posteriorly rotated ears, Depressed nasal bridge, Anteverte...	OMIM:616222
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Apraxia, Spasticity	OMIM:221820
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy...	OMIM:301000
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Schilbach-Rott Syndrome	Epicanthus, Posteriorly rotated ears, Hypospadias, Prominent nose, Long nose, Micrognathia, Submu...	OMIM:164220
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block...	ORPHA:398124
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment	ORPHA:3238
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo...	ORPHA:465
White-Kernohan Syndrome	Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Gastroesopha...	OMIM:619426
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Beaded ribs, Bowing of the legs, Abnormal hand bone ossif...	OMIM:200600
Spastic Paraplegia 16, X-Linked	Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary...	OMIM:300266
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cupped ear, Limb ataxia, Pe...	OMIM:617101
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short...	ORPHA:261304
Orofaciodigital Syndrome Xv	Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Low...	OMIM:617127
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Bell-shaped...	ORPHA:2021
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Respiratory insufficiency, Knee flexion contracture, Dysphagia, Distal arthrogryposis, Cam...	OMIM:618198
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ...	OMIM:618886
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Bul...	OMIM:619188
Sarcoidosis	Abnormal nasal mucosa morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial ne...	ORPHA:797
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Abnormality of dental color, Dental crowding, Micrognathia, Hypo...	ORPHA:37553
Zygomycosis	Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Colitis, Vomiting, Coug...	ORPHA:73263
Parkinson Disease 2, Autosomal Recessive Juvenile	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:600116
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Sinusitis, Pericarditis, Epista...	ORPHA:727
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
H Syndrome	Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosp...	ORPHA:168569
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia	OMIM:300624
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me...	ORPHA:90362
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Tenosynovial Giant Cell Tumor	Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ...	ORPHA:66627
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Epistaxis, Impaired neutrop...	OMIM:260570
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia	ORPHA:228169
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineura...	ORPHA:79241
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Depressed nasal bridge, Highly arched eyebrow, Unilateral renal agen...	OMIM:618142
X-Linked Agammaglobulinemia	Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Hyp...	ORPHA:47
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing ribs, Abno...	ORPHA:2759
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Abnormality of the thyroid gland, Xerostomia, Enlarged lacrima...	ORPHA:449432
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of...	ORPHA:252164
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures	ORPHA:1129
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Microdontia, Bifid uvula, Depressed nasal bridge, Hypos...	OMIM:129400
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, Oliguria, Brad...	ORPHA:90051
Juvenile Huntington Disease	Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus	ORPHA:248111
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Fused th...	ORPHA:97360
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Elbow flexion contracture, Flared metaphysi...	OMIM:184252
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the...	OMIM:257850
Neuroocular Syndrome	Unilateral deafness, Cupped ear, Low-set ears, Anterior creases of earlobe	OMIM:619539
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia	OMIM:609161
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hypospadias, Microgna...	OMIM:603736
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Flared, irregular rib ends, Coxa vara, Short palm	ORPHA:168555
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, E...	OMIM:610536
Craniorachischisis	Anal atresia, Bifid sternum, Congenital diaphragmatic hernia	ORPHA:63260
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Horizon...	ORPHA:239
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea, Dental crowding, Dysmetria, Gait ataxia, Hypomimic face	ORPHA:320385
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,...	ORPHA:1716
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hea...	OMIM:182212
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ...	OMIM:277450
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia	OMIM:617820
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Trismus, De...	OMIM:227330
Raine Syndrome	Mandibular prognathia, Micrognathia, Short neck, Protruding ear, Choanal stenosis, High palate, M...	OMIM:259775
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio...	OMIM:612530
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Achondrogenesis Type 1B	Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, Narrow chest...	ORPHA:93298
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
49,Xxxyy Syndrome	Low-set, posteriorly rotated ears, Decreased serum testosterone concentration, Epicanthus, Mandib...	ORPHA:261534
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech, Thick vermilion border, Nephrolithiasis	OMIM:619827
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Fetal Encasement Syndrome	Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth	OMIM:613630
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Prominent nose, Micrognathia, Cryptorchidism, Short thumb, Abs...	OMIM:617516
Zimmermann-Laband Syndrome	Wide nose, Telecanthus, Micrognathia, Splenomegaly, Bulbous nose, Sensorineural hearing impairmen...	ORPHA:3473
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triangular sh...	ORPHA:73230
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Restrictive ventilatory de...	OMIM:203300
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology, Anal atresia	ORPHA:195
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysphagia, Lim...	OMIM:261640
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Abnormal renal morphology, Abnormality of the outer ear, ...	OMIM:182290
Matthew-Wood Syndrome	Renal hypoplasia, Horseshoe kidney, Low-set ears, Vesicoureteral reflux, Failure to thrive	ORPHA:2470
Wolfram Syndrome	Male hypogonadism, Nephropathy, Ataxia, Respiratory insufficiency, Cardiomyopathy, Constipation, ...	ORPHA:3463
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of paro...	ORPHA:79078
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Microcytic anemia, Intes...	ORPHA:774
Propionic Acidemia	Pancytopenia, Apnea, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemo...	OMIM:606054
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Anteverted nares, Posteriorly rotated ears, Hypopla...	ORPHA:228396
Cach Syndrome	Optic atrophy, Renal hypoplasia, Limb ataxia, Dysmetria, Dysphagia, Truncal ataxia	ORPHA:135
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Splenomegaly, Wheezing, Diarrhea, Cholelithiasis, Fat malabsorption	OMIM:211600
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi...	OMIM:618775
Trisomy 13	Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,...	ORPHA:3378
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Short...	ORPHA:2484
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Choanal atresia, Congenital di...	OMIM:613309
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Stiff...	ORPHA:268882
Donnai-Barrow Syndrome	Posteriorly rotated ears, Depressed nasal bridge, Congenital diaphragmatic hernia, Intestinal mal...	ORPHA:2143
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, High palate, Short philtrum, Finger ...	OMIM:212720
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Ritscher-Schinzel Syndrome 1	Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adren...	OMIM:220210
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Protruding tongue, Ma...	OMIM:242860
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Meckel Syndrome 12	Anteverted nares, Ureteral hypoplasia, Micrognathia, Antecubital pterygium, Wide nasal bridge, Re...	OMIM:616258
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Kyphoscolio...	ORPHA:412035
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Telecanthus, Hypospadias, Gastritis, Megaloblastic anemia, Abnormal erythrocyte morphology, Folat...	ORPHA:2575
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
46,Xy Sex Reversal 4	Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Prominent nose, Micrognathia, ...	OMIM:154230
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Congenital diaphragmatic hernia, Crowded maxillary incisors, Abnormal fe...	ORPHA:2063
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Pectus excavatum, Postaxial polydac...	OMIM:258860
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ...	OMIM:184250
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Johnson Neuroectodermal Syndrome	Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin...	ORPHA:2316
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Koolen-De Vries Syndrome	Anteverted ears, High palate, Widely spaced teeth, Vesicoureteral reflux, Vertebral fusion, Promi...	OMIM:610443
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:604804
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con...	ORPHA:373
Trisomy 12P	Epicanthus, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corne...	ORPHA:1699
Eales Disease	Optic disc pallor, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, M...	ORPHA:40923
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormal pinna morphology, Renal hypoplasia	ORPHA:75389
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Depressed nasal bridge, Abnormality of the kidney, Micrognathia, Sparse eyebrow, Hydr...	ORPHA:459061
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Delayed closure of the anterior fontane...	OMIM:607872
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Short p...	OMIM:619142
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Neonatal respiratory distress, Tachycardia, Apnea, Flexion contract...	OMIM:614653
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Prominent nasal br...	OMIM:619951
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Renal hypoplasia/aplasia, Micrognathia, Wide nasal bridge, Abnormal antihe...	ORPHA:1438
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Telecanthus, Hearing impairment, Micromelia, Aplasia/Hypoplasia of t...	ORPHA:2496
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Exaggerated cupid's bow, Diastasis recti, Overlapping toe, Pectus excavat...	ORPHA:254528
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Abnormal pinna morphology, Hypospadias, Per...	OMIM:610253
19P13.3 Microduplication Syndrome	Epicanthus, Telecanthus, Posteriorly rotated ears, Unilateral cryptorchidism, Underdeveloped nasa...	ORPHA:447980
Huntington Disease	Rigidity, Chorea, Bradykinesia, Gait ataxia	OMIM:143100
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Aganglionic megacolon, Posteriorly rotated ears, Apnea, Central hypoventilation,...	OMIM:209880
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m...	OMIM:187601
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Renal cyst, Cleft palate, ...	OMIM:614815
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Enlargement of the costochondral junction, Capitate-hama...	OMIM:271650
Isotretinoin Syndrome	Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality o...	ORPHA:2305
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo...	ORPHA:251004
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, Epicanthus, Depressed nasal bridge, Posteriorly rotated ...	OMIM:610733
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Hypogonadism, Bradycardia	OMIM:609286
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat...	OMIM:600649
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
German Syndrome	Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Heari...	ORPHA:2077
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cl...	OMIM:620269
Microphthalmia, Syndromic 3	Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Missing ribs, Cryptorc...	OMIM:206900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs, Anal atresia	OMIM:271520
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, An...	ORPHA:404440
Duane Retraction Syndrome	Skeletal muscle atrophy, Anteverted nares, Micrognathia, External ear malformation, Ectopic kidne...	ORPHA:233
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Metaphyseal widening, Cleft palate,...	ORPHA:440354
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Joint stiffness, Thick lower lip vermilion, Genu valgum, Macroglossia, Broa...	ORPHA:583
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Anteverted nares, Facial palsy, Aplasia/Hypoplasia of the tongue, Microg...	ORPHA:1358
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk...	ORPHA:13
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Dysphagia, Aspirati...	OMIM:618253
Intellectual Developmental Disorder, Autosomal Dominant 22	Smooth philtrum, Thin upper lip vermilion, Epicanthus, Telecanthus, Abnormal pinna morphology, De...	OMIM:612337
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Pectus excavatum, Metaphyseal widen...	OMIM:608728
Congenital Factor Xi Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Kyphoscoliosis, Protruding...	ORPHA:324410
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Hypertension, Mi...	OMIM:230800
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Genu valgum, Hip...	OMIM:619698
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Acrofacial Dysostosis, Palagonia Type	Posteriorly rotated ears, Sparse eyelashes, Abnormal eyelid morphology, Micrognathia, High, narro...	ORPHA:1787
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Syndactyly, ...	ORPHA:2839
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Short philtrum, Anteverted nares, Hypospadias, Sparse eyebrow, Cryptorchidism, Wide...	OMIM:613026
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Bradykinesia, Ataxia, Rigidity	OMIM:617836
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Unilateral Polymicrogyria	Apnea, Epistaxis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordi...	ORPHA:268943
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Benign Familial Neonatal Epilepsy	Limb myoclonus, Apnea, Clonus, Gastroesophageal reflux	ORPHA:1949
Monosomy 18P	Epicanthus, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, Downtur...	ORPHA:1598
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia, Heari...	OMIM:614922
X-Linked Dystonia-Parkinsonism	Resting tremor, Protruding tongue, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Impaired oro...	ORPHA:53351
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo...	OMIM:616589
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Absence of renal corticomedullary differentiation, Renal hypoplasia, Low-set ears, Recu...	OMIM:619758
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture, Narrow mouth	OMIM:614833
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ...	OMIM:616331
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Multiple glomerular cysts, Ataxia, Apnea, Cardiac conduction ab...	ORPHA:255210
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Pontocerebellar Hypoplasia Type 2	Apnea, Oral-pharyngeal dysphagia, Babinski sign, Viral infection-induced rhabdomyolysis, Choreoat...	ORPHA:2524
Alagille Syndrome	Hypoplasia of the ulna, Telangiectasia of the skin, Renal hypoplasia/aplasia, Long nose, Cryptorc...	ORPHA:52
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Atypical Rett Syndrome	Sudden episodic apnea, Involuntary movements, Episodic tachypnea, Tremor, Limb myoclonus, Small h...	ORPHA:3095
Trisomy 1Q	Microretrognathia, Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Camptodactyly...	ORPHA:261344
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna...	OMIM:269250
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia...	ORPHA:570
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th...	OMIM:101600
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Action tremor	OMIM:606438
Donnai-Barrow Syndrome	Diaphragmatic eventration, Depressed nasal bridge, Posteriorly rotated ears, Congenital diaphragm...	OMIM:222448
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Cardiomyopathy, Hypogonadism, Hepatomegaly	OMIM:608540
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears, C...	OMIM:167730
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Abnormal repetitive mannerisms	OMIM:617830
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, High, narrow palat...	ORPHA:436003
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Ap...	OMIM:619503
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Camptodactyly of ...	ORPHA:1106
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Kyphosis, ...	OMIM:615108
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Optic disc pallor, Death in infancy, Tented up...	OMIM:618580
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia	ORPHA:254534
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Micrognathia, Synophrys, Downturned corners of mouth, High palate, Gastroesophagea...	OMIM:610759
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Chromosome 18P Deletion Syndrome	Epicanthus, Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, Depressed n...	OMIM:146390
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Highly arched eyebrow, Short columella, Low-set ears, ...	OMIM:300867
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Cardiac arrest	ORPHA:77260
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Enlarged joints, Posteriorly rotated ears, Depressed nasal bridge,...	ORPHA:1427
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Abnormal enchondral ossification, Short thorax, Shor...	ORPHA:93299
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Mixed hearing impairment, Epicanthus, Posteriorly rotated ears, Macrocytic ...	OMIM:606164
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa v...	OMIM:608940
Zttk Syndrome	Craniosynostosis, Abnormality of the dentition, Flexion contracture, Submucous cleft hard palate,...	OMIM:617140
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Anhidrosis, Ataxia, Urinary incontinence, Parki...	OMIM:146500
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro...	ORPHA:101085
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Epicanthus, Tented upper lip vermilion, Exaggerated startle response, Apnea, Tremor, Truncal titu...	OMIM:618056
Hermansky-Pudlak Syndrome 10	Apnea, Splenomegaly, Retrognathia, Low-set ears, Neutropenia, Macrotia, Smooth philtrum	OMIM:617050
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Sensorineural hearing impairment...	OMIM:612938
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit...	ORPHA:828
Gabriele-De Vries Syndrome	Micrognathia, Tremor, High palate, Simple ear, Sparse eyebrow, Cryptorchidism, Low-set ears, Uret...	OMIM:617557
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Prominent nose, Micrognathia, High, narrow palate...	ORPHA:435638
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Paralysis, Respiratory insufficiency due to ...	ORPHA:18
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Midface retrusion, Convex nasal ridge, Abnormal...	ORPHA:1540
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure...	ORPHA:30
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Hypospadias, Tracheomalacia, Micrognathia, Hypopl...	ORPHA:314679
Squalene Synthase Deficiency	Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Hypospadias, Optic nerve hypoplasia...	OMIM:618156
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Nephrolithiasis, Hypertension, F...	OMIM:232200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Telecanthus, Neonatal respiratory distress, Abnormal pinna morphology, Depr...	OMIM:217980
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den...	OMIM:214500
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Exaggerated cupid's ...	ORPHA:2215
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Abnormality of the dentition, Gait...	OMIM:312750
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Wide anterior fontanel, Decreased proportion of CD8-positive T cells, Hyp...	OMIM:617241
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Hypo...	OMIM:164745
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment	OMIM:601076
Joubert Syndrome 9	Encephalocele, Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Oculomotor apraxia	OMIM:612285
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu...	ORPHA:2038
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Abnormal midface morphology, Short neck, Hypoplasia of t...	ORPHA:1299
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia, Malabsorption	ORPHA:99811
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, ...	ORPHA:2437
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ...	OMIM:613443
Femoral-Facial Syndrome	Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Toe syndactyly, Short ...	OMIM:134780
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Periana...	OMIM:612541
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Congestive heart fail...	ORPHA:108
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
8Q21.11 Microdeletion Syndrome	Ptosis, Wide nose, Epicanthus, Hypoplasia of penis, Camptodactyly of finger, Exaggerated cupid's ...	ORPHA:284160
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Decreased fibular...	OMIM:616897
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia...	ORPHA:306542
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Orofacial cleft, Downturned corners of mouth, Short philtrum, Vertebral fu...	OMIM:194190
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma...	ORPHA:276280
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormality of the ea...	OMIM:601680
Idiopathic Congenital Hypothyroidism	Bradycardia, Prolonged neonatal jaundice	ORPHA:95717
Neurofibroma	Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib...	ORPHA:252183
Tarp Syndrome	Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted nares, Wide nasal bridge, Ath...	OMIM:311900
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Apnea, Micrognathia, Glutaric aciduria, D-2-hydroxyglutaric aciduria, Cardi...	OMIM:600721
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Micromelia, High, narrow palate, Synophrys, Micr...	OMIM:122470
Chromosome 1P35 Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Ataxia, Micrognathia, Almond-shaped palpebral...	OMIM:617930
Prune Belly Syndrome	Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Ap...	ORPHA:2970
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Hyperparathyroidism, Hydroureter, Anteverted nares, Prominent ...	ORPHA:2604
Ohdo Syndrome, X-Linked	Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Micropenis, Depresse...	OMIM:300895
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Pa...	ORPHA:217085
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micromelia, Micrognathia, Cry...	ORPHA:93329
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, ...	ORPHA:2131
Zellweger Syndrome	Death in infancy, Epicanthus, Multicystic kidney dysplasia, Depressed nasal bridge, Hypospadias, ...	ORPHA:912
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia, Episodic vomiting	OMIM:301095
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Hig...	OMIM:224690
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Larsen-Like Syndrome	Conductive hearing impairment, Recurrent otitis media, Low-set ears	OMIM:608545
Postaxial Acrofacial Dysostosis	Conical tooth, Micrognathia, Eyelid coloboma, Conductive hearing impairment, Micropenis, Hypoplas...	OMIM:263750
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Bradykinesia, Chronic consti...	ORPHA:411602
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr...	OMIM:600920
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo...	ORPHA:167
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Short Stature, Microcephaly, And Endocrine Dysfunction	Ataxia, Unilateral renal agenesis, Ectopic kidney, Sensorineural hearing impairment, Renal hypopl...	OMIM:616541
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Kyphosis, ...	OMIM:615109
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Micrognathia, Short philtrum, Hypoplasia of the thymus, Gastroesophag...	ORPHA:567
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of th...	ORPHA:582
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Furrowed tongue	ORPHA:2743
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morph...	ORPHA:79430
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,...	OMIM:109120
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Coxa valga, Pierre-Robin sequence, Rib fusion, Posterior ri...	ORPHA:263508
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Urinary incontinence, Parkinsonism, Bowel incontinence, Tremor, Rigidity, Head tit...	OMIM:618877
Baker-Gordon Syndrome	Ataxia, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms	OMIM:618218
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, D...	OMIM:600795
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Micropenis, Depressed nasal bridge...	OMIM:158170
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Adrenal hypoplasia, Morgagni diaphragmatic hernia, Micrognathia, Rectal prolapse, Hyp...	OMIM:613177
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Pa...	ORPHA:217093
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan...	ORPHA:163966
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, Laryngotracheomalacia, Renal cyst, Short philtrum,...	OMIM:618454
Hypermanganesemia With Dystonia 2	Limb joint contracture, Parkinsonism, Tremor, Achilles tendon contracture, Babinski sign, Scissor...	OMIM:617013
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Delayed skeletal maturat...	OMIM:608154
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ...	ORPHA:90037
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microti...	OMIM:616462
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Pelvic girdle muscle atrophy, Cleft ala nasi...	ORPHA:3044
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,...	OMIM:615398
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Eruption failure, High ...	OMIM:166250
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Marden-Walker Syndrome	Epicanthus, Decreased muscle mass, Anteverted nares, Hypospadias, Micrognathia, High, narrow pala...	OMIM:248700
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Absent platelet dense granules, Epistaxis, Restrictive ventilatory defect, Men...	OMIM:614073
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Downturn...	ORPHA:247262
Myhre Syndrome	Short palm, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Submucous cleft hard palat...	ORPHA:2588
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia	OMIM:617384
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib...	OMIM:223800
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Abnormality of neutrophils, Protruding tongu...	ORPHA:2268
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Depressed nasal bri...	ORPHA:994
Phosphoribosylpyrophosphate Synthetase Superactivity	Ptosis, Epicanthus, Renal insufficiency, Depressed nasal bridge, Hypospadias, Ataxia, Cryptorchid...	OMIM:300661
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Accelerated skeletal matu...	ORPHA:561
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Micrognathia, Flexion contracture, Hand tremor, Hypertonia, Death in infancy, ...	OMIM:618947
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Celiac disease, Rib fusion, Clinodactyly of the 5th finger	ORPHA:544488
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Developmental And Epileptic Encephalopathy 90	Fetal pyelectasis, Babinski sign, Ankle clonus, Apneic episodes in infancy, Constipation, Hypothy...	OMIM:301058
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Protruding ear, Downt...	OMIM:156200
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec...	OMIM:616037
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Micrognathia, Gastroesophageal reflux, Death in infancy, Neonatal asphyx...	OMIM:608779
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Trisomy 10P	Decreased muscle mass, Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Gastro...	ORPHA:171929
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft lip, Supernumer...	OMIM:619122
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Seckel Syndrome 1	11 pairs of ribs, Pancytopenia, Abnormal pinna morphology, Hypospadias, Dental crowding, Prominen...	OMIM:210600
Larsen Syndrome	Cervical kyphosis, Knee dislocation, Conductive hearing impairment, Spina bifida occulta, Hypopla...	OMIM:150250
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Microscopic hematuria, Myocarditis, Fulminant hepatitis, Leukocytosis...	ORPHA:319213
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Communicating hydrocephalus, Micrognathia, Cryptorchidism, Bul...	ORPHA:1237
Rubinstein-Taybi Syndrome	Ptosis, Epicanthus, Telecanthus, Highly arched eyebrow, Abnormality of the dentition, Carious tee...	ORPHA:783
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Broad long bones, Dental crowding, Wormian bones, Coxa valga, Carious te...	OMIM:269300
Oculoskeletodental Syndrome	Splenomegaly, Hypercalcemia, Hypocalcemia, Hepatomegaly	OMIM:618440
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th...	OMIM:117650
Fraser Syndrome 3	Hypoplasia of the bladder, Wide nose, Hypoplasia of penis, Convex nasal ridge, Micrognathia, Hydr...	OMIM:617667
Foxg1 Syndrome	Dystonia, Bruxism, Choreoathetosis, Decreased body weight, Abnormal repetitive mannerisms, Paroxy...	ORPHA:561854
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Unilateral ptosis, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide nasal bridge, Pro...	ORPHA:3304
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal morphology, F...	OMIM:610883
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Progressiv...	ORPHA:522077
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Optic nerve hypoplasia, Highly arched eyebrow, Broad nasa...	OMIM:620155
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ...	ORPHA:2878
Benign Familial Infantile Epilepsy	Limb myoclonus, Hypertonia, Apnea	ORPHA:306
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Tetanus	Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens...	ORPHA:3299
Fanconi Anemia, Complementation Group F	Vesicoureteral reflux, Renal hypoplasia, Microtia, Pelvic kidney, Microphallus, Conductive hearin...	OMIM:603467
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Apnea, Hearing impairment, Protruding tongue, Gait ataxia, Choreoathetosis, Opisthotonus,...	OMIM:619580
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Conical incisor, Conjunctivitis, Nephrosclerosis, Microdonti...	OMIM:149730
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Paroxysmal ver...	ORPHA:276621
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Hearing impairment	OMIM:166220
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Stridor, Dysphagia, Arthrogryposis...	OMIM:617143
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Gingival o...	OMIM:614753
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral ref...	OMIM:616894
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect...	OMIM:617092
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Protruding ear, Reduced bone mineral density, Iron deficiency anemia, High palate, Ab...	ORPHA:93315
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ...	OMIM:617895
Hypoglossia With Situs Inversus	Micrognathia, Asplenia, High palate, Hypodontia, Low-set ears, Narrow mouth, Polysplenia, Microgl...	OMIM:612776
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive...	OMIM:618917
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia,...	OMIM:613327
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Obesity...	OMIM:600430
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Blepharospasm, Choreoathetosis, Br...	OMIM:606159
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti...	ORPHA:79312
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Delayed skeletal matura...	OMIM:613804
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Dental crowding, Intestinal malrotation, Congenital diaphragmatic hernia, Hyposp...	OMIM:617602
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom...	OMIM:153670
Joubert Syndrome 33	Oculomotor apraxia, Splenomegaly, Ataxia, Apnea	OMIM:617767
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment	ORPHA:238750
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Generalized amyotrophy, 2-ethylhydracylic aciduria	OMIM:610006
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Ataxia, Decreased response to growth hormone...	OMIM:610978
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Bruising susceptibility,...	OMIM:614076
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Prominent nasal bridge, Anisocytosis, Micrognathia, Flexion contracture, Lacticaciduria, Renal hy...	OMIM:604273
Oxoglutaric Aciduria	Skeletal muscle atrophy, Ataxia, Hydrocephalus, Hypertonia, Abnormal urine alpha-ketoglutarate co...	ORPHA:31
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Hypospadias, Prominent nasal bridge, Micrognathia, Carious te...	ORPHA:96097
Nasal Bones, Absence Of	Short columella, Narrow naris	OMIM:161480
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Gait ataxia, Prominent antihelix, Dystonia, Abnormal repetitive mannerisms	OMIM:617807
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Pulmonary venous hypertension, Enl...	ORPHA:79128
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp...	OMIM:235255
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Xp21 Deletion Syndrome	Decreased muscle mass, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Myopathy, Ca...	ORPHA:261476
Mitochondrial Complex I Deficiency, Nuclear Type 10	Ataxia, Central hypoventilation, Apnea, Optic atrophy, Dysmetria, Respiratory failure, Dysphagia	OMIM:618233
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Vertebral fusion, C...	OMIM:139210
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hypertonia, Ecchymosis, Papilledema, Paralysis, Hepatosplenomegaly, De...	ORPHA:2072
Monosomy 9P	Congenital diaphragmatic hernia, Micrognathia, Synophrys, Anotia, High palate, Hypertonia, Depres...	ORPHA:261112
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Accessory spleen, Depres...	ORPHA:3379
Phaver Syndrome	Posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing im...	ORPHA:2876
Corticobasal Syndrome	Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad...	ORPHA:454887
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Micrognathia, C...	OMIM:614230
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Apnea, Premature loss of primary teeth, Tremor, Splenomegaly, Hydrocep...	ORPHA:667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Tremor, Synophrys, Hypertrophy of the urinary bladder, Large fleshy e...	ORPHA:280633
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Short neck, Hypoplasia of the maxilla, Bulbous nos...	OMIM:609460
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, Wide nasal bridge,...	OMIM:618356
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Bifid uvula, Hy...	OMIM:218600
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Epicanthus, Intermittent hyperventilation, Prominent nasal bridge, Optic nerve...	OMIM:300749
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Ataxia, Micrognathia, Babinski sign, Optic atrophy, Gait ataxia, Elevate...	OMIM:620089
Martin-Probst Syndrome	Epicanthus, Telecanthus, Renal insufficiency, Proteinuria, Pancytopenia, Micrognathia, Cryptorchi...	OMIM:300519
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Synophrys, Hypertonia, Aplasia/Hypoplasia of the gallbladder, ...	ORPHA:96092
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Delayed skeleta...	OMIM:613805
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, High palate, Congenital diaphragmatic hernia	OMIM:619699
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines...	ORPHA:391411
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra...	OMIM:607155
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Absent inner and outer dynein a...	OMIM:606763
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir...	ORPHA:79301
Down Syndrome	Short neck, Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Mi...	ORPHA:870
Stromme Syndrome	Accessory spleen, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal mal...	OMIM:243605
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Left ventricul...	ORPHA:335
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Oligodontia, C...	ORPHA:2095
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, High palate, Sprengel ano...	ORPHA:2180
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Small earlobe, Tented upper lip vermilion, Prominent nasal bridge, Exagg...	ORPHA:364577
Mandibuloacral Dysplasia	Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of the large joint...	ORPHA:2457
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Young-Onset Parkinson Disease	Gastroparesis, Tremor, Rigidity, Diarrhea, Bradykinesia, Constipation, Abnormal autonomic nervous...	ORPHA:2828
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Seckel Syndrome 2	Hypospadias, Prominent nose, Micrognathia, Ectopic kidney, Microdontia, Microglossia	OMIM:606744
Perry Syndrome	Hypoventilation, Parkinsonism, Central hypoventilation, Tremor, Rigidity, Respiratory insufficien...	OMIM:168605
Craniometaphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Optic atrophy, Facial palsy	OMIM:218400
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Intestinal obstructio...	ORPHA:2323
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An...	ORPHA:2554
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Renal cyst, Micropenis, Multicystic kidney dysplasia, Depressed nasal bridge, Antev...	OMIM:257300
Telangiectasia, Hereditary Hemorrhagic, Type 5	Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom...	OMIM:139090
Xylt1-Cdg	Joint laxity, Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Th...	ORPHA:370930
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr...	OMIM:610017
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Microvesicular hepat...	OMIM:212140
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,...	OMIM:613803
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Kyphosis, ...	OMIM:158350
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Bardet-Biedl Syndrome 3	Obesity, Renal hypoplasia	OMIM:600151
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, High palate, Short philtrum, ...	OMIM:617746
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Nasal polyposis, Wheezing, Abnormal axonemal organization of respi...	OMIM:613808
Menke-Hennekam Syndrome 2	Narrow nasal bridge, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Duodenal ulcer...	OMIM:618333
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Unilateral renal agenesis, Aggressive behavior,...	ORPHA:3306
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors	ORPHA:397973
Brachycephaly, Trichomegaly, And Developmental Delay	Conductive hearing impairment, Overfolded helix, Low-set ears	OMIM:617412
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Clonus, Tremor, Sensorineural hearing impairment, Dysphagia, Hypopnea, 3...	OMIM:617248
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Decreased...	OMIM:241410
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic ...	ORPHA:1001
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac...	ORPHA:2772
Tetrasomy 5P	Respiratory distress, Epicanthus, Posteriorly rotated ears, Anteverted nares, Short hallux, Micro...	ORPHA:3309
Hermansky-Pudlak Syndrome 11	Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Bruising susceptibility	OMIM:619172
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Parkinsonism with favorab...	ORPHA:240071
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Elb...	ORPHA:3258
8P23.1 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, External ear ...	ORPHA:251071
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu...	OMIM:616229
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia, Hepatic st...	OMIM:255120
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su...	OMIM:601399
Lethal Congenital Contracture Syndrome 9	Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, Wrist flexion co...	OMIM:616503
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Posteriorly rotated ears, Congenital diaphragmatic hernia, Long philtrum	OMIM:300887
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Ovarian cyst, Enlarged kidney, Splenic cyst	OMIM:618188
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Vomiting, Cough	ORPHA:137935
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral ...	OMIM:231070
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Renal Hypoplasia, Bilateral	Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disease, Renal hypo...	ORPHA:97362
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Vesicourete...	OMIM:616580
Immunodeficiency 9	Death in infancy, Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, ...	OMIM:612782
12Q14 Microdeletion Syndrome	Ectopic kidney, Tremor, Renal hypoplasia, Horseshoe kidney, Failure to thrive	ORPHA:94063
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Facial palsy	OMIM:123000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Obesity, Compulsive behavio...	OMIM:618430
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, E...	ORPHA:3107
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Splenomegaly, Osteolysis, Fused cervical vertebrae, Join...	OMIM:612852
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,...	ORPHA:3097
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Wide...	OMIM:224410
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, High palat...	ORPHA:2059
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, ...	ORPHA:769
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic...	OMIM:151210
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:171695
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology	OMIM:266500
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea...	ORPHA:2838
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Atelis Syndrome 2	Prominent nose, Micrognathia, Elevated circulating thyroid-stimulating hormone concentration, Dys...	OMIM:620185
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia	OMIM:601709
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Neoplasm of the nose, Nasal polyposis, Pancreatic adenocarcinoma, In...	ORPHA:2869
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegaly, Exercise-induced myoglob...	OMIM:201475
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Accelerated skeletal matur...	OMIM:245600
Diaphanospondylodysostosis	Short neck, Myelomeningocele, Cleft palate, Multiple renal cysts, Absent or minimally ossified ve...	ORPHA:66637
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Neurogenic bladder, Epistaxis, Abnormality of the musculature of the limbs, Hi...	ORPHA:137667
Kinsship Syndrome	Mandibular prognathia, Micrognathia, Synophrys, Downturned corners of mouth, Short philtrum, Wide...	OMIM:619297
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness...	ORPHA:90658
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co...	ORPHA:85184
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Desmosterolosis	Micromelia, Micrognathia, Hypertonia, Bifid uvula, Low-set, posteriorly rotated ears, Depressed n...	ORPHA:35107
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyse...	OMIM:250420
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, L...	ORPHA:672
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r...	ORPHA:2399
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho...	ORPHA:1318
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Hypospadias, Repetitive compulsive behavior, Chorea, Bruxism, Dysphag...	OMIM:300260
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Micro Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorch...	ORPHA:2510
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Recurrent upper respiratory tract infectio...	OMIM:614075
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Scapular winging, Lacrimal duct stenosis, Carious te...	OMIM:615560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation...	OMIM:618395
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Conductive hearing impairment, Papilledema, Chronic diarrhea, Tempor...	ORPHA:580
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Short neck, Thoracolumbar kyphoscoliosis, Diastema, Gingival o...	OMIM:212066
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ...	OMIM:615518
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomegaly, Oral ulcer...	ORPHA:50918
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Hypospadias, Uplifted earlobe, Kyphosis, Cleft pala...	OMIM:616449
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, A...	ORPHA:3035
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno...	ORPHA:1655
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, Abnormality of...	ORPHA:449563
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Hyposmia, Parkinsonism with favorable respo...	OMIM:607060
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention ...	OMIM:617914
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
White-Sutton Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Downturned corn...	OMIM:616364
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Gastroesophageal reflux, Myo...	OMIM:300673
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Micrognathia, Tremor, Cryptorchidism, Flexion contracture, Respiratory insufficiency, Hype...	OMIM:608093
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypertonia, Hypoplasia of the thy...	OMIM:264090
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Micrognathia, ...	ORPHA:1926
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Aspleni...	ORPHA:244
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Multicy...	OMIM:614527
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar hypoplasia...	OMIM:161200
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Abnormality of the kidney, Overweight, Repetitive compulsive behavior, Abnormality of the ear, At...	ORPHA:391372
Rhyns Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:602152
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:453504
Dentici-Novelli Neurodevelopmental Syndrome	Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Spinocerebellar Ataxia Type 8	Ataxia, Urinary incontinence, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesi...	ORPHA:98760
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:352665
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor, Obesity, Enures...	OMIM:619680
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hyperekplexia 3	Exaggerated startle response, Apnea, Hiatus hernia, Hypertonia, Syncope, Myoclonus, Gastroesophag...	OMIM:614618
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Fatal Familial Insomnia	Apnea, Ataxia, Dysphagia, Hyperhidrosis, Urinary retention, Abnormal autonomic nervous system phy...	OMIM:600072
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s...	OMIM:253250
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Sparse eyebrow, Carious teeth, Splenomegaly, R...	OMIM:604173
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Abnormality of the dentition, Sparse...	ORPHA:77258
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Deep philtrum, Knee flexion contracture, Hypertonia, Microdontia, Prominent cru...	OMIM:619194
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Conjunctiva...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Conjunctiva...	ORPHA:529808
Fanconi Anemia, Complementation Group P	Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Bulbous nose, Short thumb, Hypoplasia o...	OMIM:613951
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoaciduria, High palate, Death in child...	OMIM:214100
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr...	OMIM:264700
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Posteriorly rotated ears, Cleft soft palate, Broad nasal tip, Abnormality of th...	OMIM:618529
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ...	OMIM:164210
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi...	OMIM:215140
Congenital Myopathy 17	Failure to thrive in infancy, Renal hypoplasia, Low-set ears, Ureteropelvic junction obstruction,...	OMIM:618975
Mosaic Trisomy 1	Microretrognathia, Thoracic scoliosis, Depressed nasal bridge, Camptodactyly of finger, Congenita...	ORPHA:1692
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology	ORPHA:280195
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossification, High...	OMIM:271640
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Intellectual Developmental Disorder, Autosomal Dominant 58	Posteriorly rotated ears, Facial hypotonia, Dental crowding, Broad nasal tip, Protruding tongue, ...	OMIM:618106
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney disease, Renal a...	ORPHA:84081
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Warburg-Cinotti Syndrome	Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha...	OMIM:618175
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Bowel incontinence, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollaki...	ORPHA:93256
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Leprosy	Absent eyebrow, Skeletal muscle atrophy, Epistaxis, Abnormality of the spleen, Loss of eyelashes,...	ORPHA:548
Skin Creases, Congenital Symmetric Circumferential, 2	Uplifted earlobe, Micrognathia, Synophrys, Ureterocele, Short palm, Microdontia, Depressed nasal ...	OMIM:616734
Joubert Syndrome 30	Tachypnea, Apnea, Ptosis	OMIM:617622
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ...	ORPHA:90033
Hermansky-Pudlak Syndrome 8	Optic disc pallor, Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival blee...	OMIM:614077
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Prominent nasal bridge, Hypoplasia of the pre...	ORPHA:2673
Feingold Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, External ear malformation, Esophageal atr...	ORPHA:1305
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop...	OMIM:620210
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Hydrocephalus, Tracheoesophageal f...	ORPHA:268249
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Branchiooculofacial Syndrome	Micrognathia, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Ectopic thymus ...	OMIM:113620
Aminopterin/Methotrexate Embryofetopathy	Low-set, posteriorly rotated ears, Encephalocele, Epicanthus, Mandibular prognathia, Aplasia/Hypo...	ORPHA:1908
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Diabetes insipi...	OMIM:222300
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Abse...	OMIM:244400
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Small for gestational age, Abnormal pinna morphology, Hypospadia...	OMIM:123450
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Micrognathia, Rena...	OMIM:250410
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Vacterl/Vater Association	Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Non-midline cleft ...	ORPHA:887
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,...	OMIM:620099
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Absent nipple, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, High palate,...	OMIM:104350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn...	ORPHA:1352
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Failure to thrive, Abnormal repetitive mannerisms	OMIM:617393
C Syndrome	Epicanthus, Short metacarpal, Posteriorly rotated ears, Anteverted nares, Accessory oral frenulum...	OMIM:211750
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619690
Hennekam-Beemer Syndrome	Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Mastocytosis, Long nos...	ORPHA:2135
Jansen-De Vries Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hyperlordosis, Central diap...	OMIM:617450
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe	ORPHA:411986
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Menorrhagia, Bruising suscept...	OMIM:614074
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Underdeveloped...	ORPHA:2031
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Vesicoureteral...	OMIM:244600
Desmosterolosis	Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Posteriorly rotated ears, Rhizomelia, Mic...	OMIM:602398
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m...	OMIM:252500
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs...	OMIM:615444
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Orofacial cleft, Protruding ...	ORPHA:2322
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activity	OMIM:617802
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Anhidrosis, Dental crowding, Ataxia, Delayed eruption of primary teeth, Ap...	OMIM:617799
8P11.2 Deletion Syndrome	Hemolytic anemia, Epicanthus, Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypog...	ORPHA:251066
Mosaic Trisomy 8	Decreased testicular size, Wide nose, Anteverted nares, Abnormal pinna morphology, Camptodactyly ...	ORPHA:96061
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ...	OMIM:608647
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch...	OMIM:187600
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Joint hypermobility, Pro...	OMIM:617804
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr...	OMIM:267000
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent nose, Long nose, Micrognathia, Highly arched eyebrow, Abnormality of the upper urinary ...	ORPHA:2995
Caribbean Parkinsonism	Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ...	ORPHA:97355
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cleft palate, Upslant...	OMIM:156610
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo...	OMIM:613848
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Micropenis, Macrotia, Abn...	OMIM:619435
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Dysphagia, ...	OMIM:618460
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Cryptorchidism, A...	ORPHA:116
Severe Intellectual Disability And Progressive Spastic Paraplegia	Overweight, Abnormal repetitive mannerisms, Dystonia	ORPHA:280763
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Unilateral renal agenesis, Ureteral atresia, V...	OMIM:618845
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Posteriorly rotated ears, Self-injurious behavior, Compulsive behavior...	OMIM:613174
Teebi-Shaltout Syndrome	High, narrow palate, Oligodontia, Small earlobe, Prominent palatine ridges, Ureteral stenosis, Hi...	OMIM:272950
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Vesico...	ORPHA:2745
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Usher Syndrome, Type Ig	Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone	OMIM:606943
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Anotia, Microtia, Attention deficit hyperactivity di...	OMIM:614083
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Anteve...	OMIM:247200
Osteogenesis Imperfecta, Type I	Otosclerosis, Hearing impairment	OMIM:166200
Chromosome 14Q11-Q22 Deletion Syndrome	Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro...	OMIM:613457
Gaucher Disease, Type Ii	Death in infancy, Apnea, Rigidity, Thrombocytopenia, Splenomegaly, Trismus, Dysphagia, Stridor, H...	OMIM:230900
Cartilage-Hair Hypoplasia	Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short palm, Abnormal...	ORPHA:175
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bowing, Femoral...	OMIM:602111
Microphthalmia, Syndromic 9	Renal malrotation, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic lef...	OMIM:601186
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Miscarriage, Micromelia, Micrognathia, Cryptorchidism, H...	ORPHA:1865
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Sclerosteosis 1	Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Dental malocclusion, 2-3 finger sy...	OMIM:269500
Lathosterolosis	Epicanthus, Hypoplasia of penis, Anteverted nares, Hearing impairment, Micrognathia, Bulbous nose...	ORPHA:46059
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Micrognathia, Flexion contracture, Protruding ear, Oligodontia, High pal...	OMIM:309590
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Urinary urgency, Bradykinesia, Constipation, Abno...	OMIM:168600
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Spast...	OMIM:300894
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac...	OMIM:232300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, Short 5th fing...	OMIM:227270
Generalized Arterial Calcification Of Infancy	Respiratory distress, Adrenal calcification, Nephrocalcinosis, Vomiting, Conductive hearing impai...	ORPHA:51608
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Hypocalciuric Hypercalcemia, Familial, Type I	Pancreatitis, Hypermagnesemia, Hypercalcemia	OMIM:145980
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt...	ORPHA:26793
Infantile Neuroaxonal Dystrophy	Ataxia, Spastic tetraparesis, Flexion contracture, Optic atrophy, Abnormal pyramidal sign, Apneic...	ORPHA:35069
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Thrombocytopenia, Leukocytosi...	ORPHA:94093
Pseudotrisomy 13 Syndrome	Renal agenesis, Posteriorly rotated ears, Renal hypoplasia, Low-set ears, Micropenis	OMIM:264480
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Downturned corners of mouth, Sho...	ORPHA:264200
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Choanal atresia, Intestinal malrotation, Optic disc coloboma, Secretory dia...	OMIM:270420
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Sternocleidomastoid amyotrophy, Abnormal rib morphology, Small hand, Short foot, Thic...	ORPHA:488434
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma...	ORPHA:3138
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal deformities...	OMIM:253000
Recombinant 8 Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cleft upper lip, Abnormality o...	ORPHA:96167
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Micrognathia, Aqueductal stenosis, Absent thumb, Absent radius, Missing ri...	OMIM:251230
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvar...	OMIM:620076
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation, Chronic constipation, Respiratory failure, Episodic hypertension,...	OMIM:619483
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Urinary incontinence, Steroid-dependent nephrotic syndrome, Aggressive beh...	OMIM:300912
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteopor...	ORPHA:94068
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenosis, Conductive hearing impairment...	OMIM:154400
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ketonuria, Ataxia, Apnea, Cardiac arrest, Spastic hemiparesis, Thrombocytosis...	ORPHA:20
D-Glyceric Aciduria	Aminoaciduria, Bradycardia, Micropenis	OMIM:220120
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs	OMIM:615220
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Underdev...	ORPHA:250999
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow, Hyp...	ORPHA:464738
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E...	ORPHA:549
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Thin ribs, High palate, ...	OMIM:616294
C Syndrome	Joint dislocation, Congenital diaphragmatic hernia, Micrognathia, Short neck, High palate, Abnorm...	ORPHA:1308
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia, Prolonged neonatal jaundice	ORPHA:226313
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an...	OMIM:614886
Holoprosencephaly 7	Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Hypop...	OMIM:610828
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Jacobsen Syndrome	Micrognathia, Flexion contracture, Eyelid coloboma, Holoprosencephaly, Depressed nasal bridge, An...	OMIM:147791
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Chronic otitis media, Emphysema, Chronic sinusitis	OMIM:604571
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Bi...	OMIM:180849
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, Posteriorly rotated ears, Facial palsy, Micrognathia, High...	ORPHA:2780
Hamamy Syndrome	Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Hypoparathyroidism, Antevert...	OMIM:611174
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal reproduct...	ORPHA:1666
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri...	ORPHA:228308
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing...	OMIM:598500
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph...	OMIM:308240
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Arrhyt...	ORPHA:42
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Conductive hearing impairment, Posteriorly rotated ears, Low-set ears	OMIM:617877
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Telecanthus, Anteverted nares, Diastasis recti, Uplifted earlobe, Broad...	OMIM:618548
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum, Abnormal sternum morph...	ORPHA:2847
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Limitation of joint mobi...	ORPHA:93473
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea...	OMIM:618332
Vici Syndrome	Death in infancy, Sensorineural hearing impairment, Optic atrophy, Ureteral atresia, Depressed na...	ORPHA:1493
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Septo-optic dysplasia, Micro...	ORPHA:3301
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Entropion, Hypospadias, Prominent nasal bridge, Trichiasis, Micrognathia, Sparse eyebrow, Sensori...	OMIM:609944
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Trichorhinophalangeal Syndrome Type 2	Conductive hearing impairment, Low-set, posteriorly rotated ears, Protruding ear	ORPHA:502
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Familial Thyroid Dyshormonogenesis	Bradycardia, Prolonged neonatal jaundice	ORPHA:95716
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti...	OMIM:619725
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia	ORPHA:93941
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Conductive hearing impairment, Atresia of the external auditory canal, Simple ear	OMIM:602471
Autosomal Dominant Hypocalcemia	Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Hamartoma of tongue, Congenital diaphragmatic hernia, Aplastic clavicle,...	OMIM:616546
Congenital Myopathy 11	Weakness of facial musculature, Neonatal respiratory distress, Apneic episodes in infancy	OMIM:619967
Floating-Harbor Syndrome	Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ...	ORPHA:2044
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate,...	ORPHA:453499
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o...	OMIM:608670
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Pearson Syndrome	Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Hypomagnesemia, Thrombocytopeni...	ORPHA:699
Coach Syndrome 2	Hydrocephalus, Hypertension, Apneic episodes in infancy, Oculomotor apraxia, Hyperechogenic kidneys	OMIM:619111
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re...	OMIM:614935
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume...	OMIM:311200
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
Marburg Hemorrhagic Fever	Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Renal insufficiency, Orchitis, Pa...	ORPHA:99826
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Short ph...	ORPHA:261337
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Lower limb muscle weakness, Apnea, Hydrocephalus, Optic atrophy, H...	ORPHA:395
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Paroxysmal ver...	ORPHA:29072
Hartnup Disorder	Glossitis	OMIM:234500
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corner...	ORPHA:531151
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculo...	ORPHA:240094
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment	OMIM:126550
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe...	OMIM:614921
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Epicanthus, Posteriorly rotated ears, ...	ORPHA:369950
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Apnea, Opisthotonus, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydro...	OMIM:210200
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Ptosis, Anteverted nares, Hypospadias, Highly arched eyebrow, Cleft soft palate, Micrognathia, Cr...	ORPHA:2282
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Cough, Microdontia, Hypothyroidism, Accessory spleen, Dep...	OMIM:620005
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Diastasis recti, Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula...	OMIM:265380
Craniofrontonasal Syndrome	Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern...	OMIM:304110
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Submu...	ORPHA:2189
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Lower limb spasticity, Depressed ...	OMIM:620029
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia	OMIM:619911
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Sinusitis, Micrognathia, Long nose, Malar prominence, Deep philtrum,...	OMIM:251260
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Developmental And Epileptic Encephalopathy 6B	Ataxia, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms	OMIM:619317
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Microtia, Radioulnar synostos...	OMIM:171480
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab...	OMIM:606324
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Hypospadias, Sensorineural hearing impairment, Low-set ears, Recurrent otitis medi...	OMIM:617751
Xia-Gibbs Syndrome	Depressed nasal bridge, Uplifted earlobe, Micrognathia, Protruding ear, Upslanted palpebral fissu...	OMIM:615829
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi...	ORPHA:77259
Developmental And Epileptic Encephalopathy 99	Central apnea, Eyelid myoclonus	OMIM:619606
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Depressed nasal bridge, Intestinal malrotation, Abnormality of c...	ORPHA:3426
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anu...	OMIM:305450
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Rocker bottom...	OMIM:208150
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Renal cyst, Microret...	OMIM:229850
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Non-midline cleft lip, Abnormal tibia morphology, Split hand, Cl...	ORPHA:1335
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ...	OMIM:612953
Hartsfield Syndrome	Wide nose, Median cleft lip, Posteriorly rotated ears, Hypospadias, Craniosynostosis, Cleft upper...	OMIM:615465
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Urinary incontinence, Parkinsonism, Acanthocytosis...	OMIM:234200
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Rett Syndrome	Skeletal muscle atrophy, Limb apraxia, Bradykinesia, Abnormal autonomic nervous system physiology...	ORPHA:778
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia	OMIM:617913
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal deformities...	OMIM:253010
Schisis Association	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, A...	ORPHA:63862
Cockayne Syndrome Type 3	Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi...	ORPHA:90324
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Distal Deletion 6P	Wide nose, Epicanthus, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Abnor...	ORPHA:96125
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	High palate, Joint hypermobility, Thin ribs	ORPHA:456328
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial...	ORPHA:3226
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate, Conductive hearing impa...	OMIM:102500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Spinocerebellar Ataxia 36	Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations	OMIM:614153
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Ost...	ORPHA:289157
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Sensorineural he...	ORPHA:3241
Proximal 16P11.2 Microduplication Syndrome	Smooth philtrum, Thin upper lip vermilion, Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:370079
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Joint stiffness, Non-midlin...	ORPHA:1300
Distal Deletion 12Q	Micrognathia, Ectopic kidney, High, narrow palate, Short neck, Vesicoureteral reflux, Micropenis,...	ORPHA:96149
Isolated Anencephaly	Cleft lip, Congenital diaphragmatic hernia	ORPHA:563609
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Congenital Disorder Of Glycosylation, Type Iit	Conductive hearing impairment, Posteriorly rotated ears, Low-set ears	OMIM:618885
Caudal Regression Syndrome	Ureteral duplication, Decreased muscle mass, Renal insufficiency, Maternal diabetes, Ectopic kidn...	ORPHA:3027
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Choanal atresia, Micrognathia, Hypercalci...	OMIM:156400
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R...	OMIM:601803
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir...	ORPHA:95430
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms, S...	OMIM:300486
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Supraventricular arrhythmia...	ORPHA:99829
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ...	OMIM:617713
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft...	OMIM:277170
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short...	ORPHA:96334
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Head-banging, Horseshoe kidney, Attention defici...	OMIM:619103
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of...	ORPHA:2166
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Prominent nose, Long nose, Micrognathia, Hypertonia, Short palm, Bifid uvula, Abnorma...	ORPHA:2636
Primrose Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture...	OMIM:259050
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Protruding ear, Knee flexion contracture, Abnormal T cell morp...	ORPHA:3132
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Posteriorly rotated ears, Underdeveloped antitragus, Unilateral renal agenes...	OMIM:181270
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Hypermagnesemia, Hypercalcemia	OMIM:145981
Pai Syndrome	Encephalocele, Telecanthus, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft pala...	ORPHA:1993
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh...	OMIM:309500
Waardenburg Syndrome	Conductive hearing impairment, Aganglionic megacolon, Hearing impairment	ORPHA:3440
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ramos-Arroyo Syndrome	Abnormal midface morphology, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Car...	ORPHA:1051
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Anterior rib cupping, Metaphyseal sclerosis, Enlargement of the costochondra...	OMIM:260400
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoplastic scapulae, Depressed nasal bri...	ORPHA:1512
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ...	ORPHA:36234
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Bradykinesia, Parkinsonism	ORPHA:412066
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp...	ORPHA:1071
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Tracheomalacia, Micrognathia, Sp...	ORPHA:1393
Primary Progressive Freezing Gait	Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Hypertensio...	ORPHA:75567
Trisomy 18	Microretrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Camptodactyly of finger, C...	ORPHA:3380
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap...	OMIM:613280
15q26 overgrowth syndrome	Mandibular prognathia, Abnormal pinna morphology, Camptodactyly of finger, Abnormality of the kid...	DECIPHER:81
Kufor-Rakeb Syndrome	Eyelid apraxia, Urinary incontinence, Parkinsonism, Bowel incontinence, Rigidity, Upper motor neu...	ORPHA:306674
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Congenital Myopathy 13	Skeletal muscle atrophy, Telecanthus, Hypercapnia, Blepharophimosis, Fatty replacement of skeleta...	OMIM:255995
Pagod Syndrome	Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota...	ORPHA:991
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Accessory ...	OMIM:249000
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Dystonia, Abnormal repetitive manne...	OMIM:613454
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat...	OMIM:188400
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia,...	OMIM:180860
Arterial Tortuosity Syndrome	Joint laxity, Congenital diaphragmatic hernia, Micrognathia, Hiatus hernia, Flexion contracture, ...	OMIM:208050
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur...	OMIM:610915
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ...	ORPHA:91138
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Anteverted...	OMIM:616975
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee...	OMIM:609945
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Apnea, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cel...	ORPHA:79644
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint	ORPHA:2234
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Epicanthus, Depressed nasal bridge, Involuntary movements, Micrognathia,...	ORPHA:284339
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Decreased body weight, Abnor...	OMIM:618347
Scarf Syndrome	Diastasis recti, Craniosynostosis, Pectus carinatum, Joint hyperflexibility, Short sternum, Long ...	ORPHA:3134
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat...	OMIM:300280
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Ankle clonus, Tongue ...	OMIM:211530
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Craniofacioskeletal Syndrome	Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Choanal atresia, Hypospad...	OMIM:300712
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Babinski sign, Ragged-red muscle fibers, Cleft palate, Bradykinesia, Ptosis	OMIM:614924
Distal Deletion 3P	Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Anteverted nares, Hearing impairment,...	ORPHA:1620
Feingold Syndrome 1	Micrognathia, Asplenia, Vocal cord paralysis, High palate, Accessory spleen, Anteverted nares, Es...	OMIM:164280
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme...	ORPHA:555874
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Micrognathia, Cleft hard palate, Synophrys, Nephrocalcinosis, Conductive hearing...	OMIM:300990
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
19P13.12 Microdeletion Syndrome	Conductive hearing impairment, External ear malformation, Sensorineural hearing impairment, Low-s...	ORPHA:254346
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Dyspnea, Mediastinal lymphadenopathy...	OMIM:181000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperit...	OMIM:602782
Isolated Exencephaly	Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto...	ORPHA:563612
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Telecanthus, Recurrent urinary tract infections,...	ORPHA:2036
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper...	OMIM:300352
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Ectopic kidney, Flexion contra...	OMIM:263650
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnor...	ORPHA:500159
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Genu re...	ORPHA:2969
White-Sutton Syndrome	Joint laxity, Thin upper lip vermilion, Depressed nasal bridge, Facial hypotonia, Congenital diap...	ORPHA:468678
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Pseudoaminopterin Syndrome	Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft, High palate, Short philtrum, Pat...	ORPHA:221120
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ataxia, Thickened helices, Impulsivity, Bruxism, Unilateral renal hypoplasia, Agitation, Low-set ...	OMIM:619950
Illum Syndrome	Bradycardia	OMIM:208155
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Mucopolysaccharidosis, Type Vii	Diastasis recti, Spatulate ribs, Joint stiffness, Pectus excavatum, Large iliac wing, Metatarsus ...	OMIM:253220
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Micrognathia, Synophrys, Renal cyst, Anteriorly placed anus, Gastroesophageal reflux, Depressed n...	ORPHA:495875
Restrictive Dermopathy 1	Ureteral duplication, Adrenal hypoplasia, Micrognathia, Flexion contracture, Neonatal death, Depr...	OMIM:275210
Distal Deletion 19P	Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears	ORPHA:96129
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni...	OMIM:612528
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocation, Semilobar ho...	OMIM:618651
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Anosmia, Small p...	OMIM:612702
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Thick eyebrow, Hooded eyelid, Diastasis recti, Prominent nose, Prec...	OMIM:618971
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha...	OMIM:263520
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Elbow dislocation, Abnormal ...	ORPHA:2769
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Delayed...	OMIM:608328
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the car...	OMIM:271665
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Maternal Phenylketonuria	Epicanthus, Anteverted nares, Micrognathia, Bilateral ptosis, Esophageal atresia, Abnormal renal ...	ORPHA:2209
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Avascular necrosis, Osteopo...	ORPHA:1775
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Granulomatosis With Polyangiitis	Sinusitis, Diffuse alveolar hemorrhage, Oral ulcer, Respiratory insufficiency, Localized pulmonar...	OMIM:608710
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Dental crowding, Limited elbow movement, Joint stiffness, Delayed closure o...	OMIM:614008
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Thin upper lip vermilion, Wide nose, Telecanthus, Depressed nasal bridge, Hydroureter, Hypoplasia...	OMIM:300707
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Lateral clavicle hook, Cleft lip, Hori...	OMIM:617925
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Meier-Gorlin Syndrome 2	Smooth philtrum, Abnormal pinna morphology, Underdeveloped nasal alae, Micrognathia, Patellar apl...	OMIM:613800
Optic Atrophy-Intellectual Disability Syndrome	Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Compulsive...	ORPHA:401777
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Hypocalcemia, Cholestasis	ORPHA:746
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations	ORPHA:276198
Alagille Syndrome 1	Duplicated collecting system, Macrotia, Multiple small medullary renal cysts, Renal hypoplasia, S...	OMIM:118450
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hepatic calcification, Hypomagnesemia	ORPHA:73224
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Hypospadias, Proteinuria, Glomerulonephritis, Nephrotic syndrome, Head tremor, Glomerular...	OMIM:619428
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Radio-Renal Syndrome	Respiratory distress, Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Rena...	ORPHA:3015
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Spastic tetraplegia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Myoclonus, Jo...	OMIM:614462
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Protruding ear, High palate, Gastroesophageal reflux, Hypothyroidism, Si...	OMIM:619325
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Micrognathia, Anteriorly placed anus, High palate, Short palm, Microdontia...	OMIM:268400
Mend Syndrome	Microretrognathia, Crossed fused renal ectopia, Posteriorly rotated ears, Prominent nasal bridge,...	OMIM:300960
Kabuki Syndrome 1	Premature thelarche, Micrognathia, Protruding ear, High palate, Micropenis, Recurrent aspiration ...	OMIM:147920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys...	ORPHA:2237
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Conductive hearing impairment, Thick upper lip v...	OMIM:607330
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Pectus excavatum...	ORPHA:77301
Focal Dermal Hypoplasia	Narrow nasal bridge, Multicystic kidney dysplasia, Abnormal dental morphology, Diastasis recti, C...	ORPHA:2092
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Optic disc coloboma, Low-...	OMIM:300472
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Hydroureter, Hypospadias, Camptodac...	ORPHA:568
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:612069
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Apnea, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureteral reflux, Hypot...	ORPHA:438213
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Depressed nasal ri...	ORPHA:99843
Distal Deletion 15Q	Thin upper lip vermilion, Multicystic kidney dysplasia, Decreased serum insulin-like growth facto...	ORPHA:1596
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Joubert Syndrome 5	Central apnea, Occipital encephalocele, Ataxia, Episodic tachypnea, Impaired renal concentrating ...	OMIM:610188
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Decreased amplitude of sensory...	ORPHA:2388
Ring Chromosome 22 Syndrome	Protruding tongue, Bulbous nose, Full cheeks, Thick vermilion border, Wide nasal base, Macrotia, ...	ORPHA:1446
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Short philtrum, Micropenis, Depressed...	ORPHA:96176
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Oligodontia, Prominent metopic ridge, Depressed nasal bridge, Cr...	ORPHA:1272
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of ...	ORPHA:97289
Thrombocytopenia 6	Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:616937
Manganese Poisoning	Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor...	ORPHA:306682
Kagami-Ogata Syndrome	Pursed lips, Diastasis recti, Thoracic hypoplasia, Coxa valga, Limitation of joint mobility, Bell...	ORPHA:254519
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cl...	OMIM:101400
Native American Myopathy	Skeletal muscle atrophy, Muscle fiber atrophy, Submucous cleft soft palate, Micrognathia, Bilater...	ORPHA:168572
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Facial palsy, Furrowed tongue	ORPHA:2483
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Portal hypertension, Action tremor, Rigidity, Splenomegaly, Esophageal varix, Truncal ataxia, Bra...	ORPHA:309854
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Widely spaced teeth, High palat...	OMIM:266920
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Kniest Dysplasia	Conductive hearing impairment, Recurrent otitis media	OMIM:156550
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Posteriorly rota...	OMIM:270400
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Micrognath...	ORPHA:50945
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Sc...	OMIM:118650
Stickler Syndrome, Type I	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:108300
Tick-Borne Encephalitis	Skeletal muscle atrophy, Tremor, Leukopenia, Vomiting, Tongue fasciculations, Nausea, Facial pals...	ORPHA:297
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin...	ORPHA:466768
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Voc...	ORPHA:64744
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Optic atrophy, Apnea, Renal steatosis	OMIM:261680
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the abdominal wall musculature, High, narrow p...	OMIM:612289
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment	OMIM:620012
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Weight loss, Unilateral renal ...	ORPHA:49041
Faundes-Banka Syndrome	Premature thelarche, Micrognathia, Gastroesophageal reflux, Long ear, Conductive hearing impairme...	OMIM:619376
Cutis Laxa, Autosomal Recessive, Type Ia	Pectus excavatum, Joint laxity, Arachnodactyly, Congenital diaphragmatic hernia	OMIM:219100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo...	OMIM:305100
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, H...	OMIM:610217
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen morphology, Spleno...	OMIM:216360
Branchio-Oculo-Facial Syndrome	Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears	ORPHA:1297
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Optic disc pallor, Somatic sensory dysfunction, ...	ORPHA:191
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Iniencephaly	Encephalocele, Congenital diaphragmatic hernia, Hyperlordosis, Spina bifida, Myelomeningocele, Ab...	ORPHA:63259
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi...	OMIM:301044
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Micro...	OMIM:613610
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis	OMIM:613870
Hypoadrenocorticism, Familial	Apnea, Vomiting, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Bradycardia	ORPHA:565624
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra...	OMIM:252940
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Joint laxity, Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe synda...	ORPHA:488642
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Oliguria, ...	ORPHA:159
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Gm1 Gangliosidosis Type 1	Spatulate ribs, Gingival overgrowth, Pectus carinatum, Macroglossia, Flared iliac wing, Short lon...	ORPHA:79255
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Apnea, Abnormality of the dentition, Decreased nerve conduction velocity, Malabsorpti...	ORPHA:285
Chromosome 18Q Deletion Syndrome	Sensorineural hearing impairment, Optic atrophy, Atresia of the external auditory canal, Conducti...	OMIM:601808
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Leukocytosis,...	ORPHA:829
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Intestinal obstruct...	OMIM:243150
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Cryptorchidism, Do...	ORPHA:96147
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Dyspnea, Sp...	ORPHA:90340
Ogden Syndrome	Abnormal head movements, Torticollis, Macrotia, Low-set ears	ORPHA:276432
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Ade...	ORPHA:124
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Tremor, Microgn...	ORPHA:506358
Blepharophimosis-Impaired Intellectual Development Syndrome	Recurrent urinary tract infections, Posteriorly rotated ears, Hypospadias, Enuresis, Attention de...	OMIM:619293
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Penoscrotal Transposition	Epicanthus, Hypospadias, Renal agenesis, Micrognathia, Abnormality of the urethra, Penoscrotal tr...	ORPHA:2842
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Tracheomalacia, Protruding tongue, Gingival overgrowth,...	OMIM:618797
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hyperextensibility at elbow, Arachnodactyly, Joint hypermobility, Sagittal craniosynostosis, Abse...	ORPHA:500150
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal form of ...	ORPHA:818
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Joint stiffness, Carious teeth, Metaphyseal wide...	OMIM:253200
Hyperekplexia 1	Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Aspiration, Frequent falls	OMIM:149400
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, High palate, Short philtrum, Death in childhood, Decreased fibul...	OMIM:619127
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavi...	ORPHA:228402
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Attention deficit hypera...	ORPHA:488618
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atresia, Vertebra...	ORPHA:2052
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Myoclonus, Dysphagia	OMIM:168601
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Wide cranial sutures, ...	OMIM:610682
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Midface retrusion, Protruding tongue	DECIPHER:52
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm...	OMIM:616393
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Bifid nasal tip, Bilateral cleft lip and palate, High pala...	OMIM:618874
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Prominent nose, Long nose, Micrognathia, Hypothyroidism, Bifid uvula, Thyroid...	ORPHA:3047
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Wide mouth, Thic...	ORPHA:1517
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr...	ORPHA:85212
Autosomal Recessive Faciodigitogenital Syndrome	Telecanthus, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Op...	ORPHA:1974
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Nephroblastoma, Hypospadias, Splen...	OMIM:312870
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Thymus hyperplasia, Micrognathia, Type 1 muscle fiber atrophy, Type 2 muscle fi...	OMIM:619036
Degcags Syndrome	Failure to thrive, Recurrent urinary tract infections, Posteriorly rotated ears, Small for gestat...	OMIM:619488
Penile Agenesis	Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Fetal pyelectasis, Bilateral renal...	ORPHA:49
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Epicanthus, Depressed nasal bridge, Micrognathia, Cryptorchidism, Small ha...	ORPHA:85276
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Micrognathia, Long nose, Synophrys, Cleft palate, Protruding ear, Narrow palpebral fissure, High ...	OMIM:301091
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe...	OMIM:208500
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Mandibular prognathia, Ureteral duplication, High, narrow palate, Hand tremor, Duplication of ren...	ORPHA:457212
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Peroxisome Biogenesis Disorder 4B	Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Adr...	OMIM:614863
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Ritscher-Schinzel Syndrome 2	Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Wide anterior fontanel, Crypt...	OMIM:300963
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thickened helices, Mixed hearing impairment, Overfolded helix, Low-set ears	OMIM:608624
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Branchial fistula, Prominent nasal bridge, Choanal atresia, Camptodacty...	ORPHA:261330
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje...	ORPHA:268
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact...	ORPHA:2908
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Hypoplastic ilia, Flared met...	ORPHA:2347
Cholesteryl Ester Storage Disease	Hepatomegaly, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Serkal Syndrome	Malrotation of small bowel, Orofacial cleft, Congenital diaphragmatic hernia	ORPHA:139466
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Hydroxykynureninuria	Renal tubular acidosis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Progressive Supranuclear Palsy	Rigidity, Tremor, Blepharospasm, Bradykinesia, Dysphagia	ORPHA:683
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Kapur-Toriello Syndrome	Conductive hearing impairment, Low-set ears	OMIM:244300
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears	OMIM:618205
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Micro...	OMIM:261540
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Ataxia, Repetitive compulsive behavior, Optic atrophy, Perineal hypospadias,...	ORPHA:66634
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ...	OMIM:301845
Huntington Disease-Like 3	Abnormal head movements, Urinary incontinence, Chorea, Progressive gait ataxia, Dystonia	ORPHA:157946
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Holoprosencephaly, Scoliosis, Thoracic hemivertebrae, Diabetes insipidus	ORPHA:1445
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment	OMIM:602080
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Glossitis, Cheilitis	ORPHA:90045
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Stridor, Apneic episodes in infancy	OMIM:608390
Myotonia Fluctuans	Stridor, Spasticity of facial muscles, Apnea	ORPHA:99734
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Small hand, Short foot, Abnormal autonomic nervous system physiology, Hyperventilation	OMIM:617903
Chikungunya	Abnormal bleeding, Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Diarrhea, Lymphadenop...	ORPHA:324625
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Mixed hearing impairment	ORPHA:309288
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Obes...	ORPHA:261494
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Micromelia, Abnormality of the dentition, T...	ORPHA:3206
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Cryptorchidism, Heart murmur, Mitral valve prolapse, Abnormal...	OMIM:615873
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Congenital diaph...	OMIM:614437
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora...	OMIM:311510
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Pneumonia, Enlarged polycystic ovaries, Abnormal circulating lepti...	ORPHA:2298
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Posteriorly rotated ears, Ataxia, Tremor, Overweight, Obesity...	OMIM:619229
Meckel Syndrome	Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Accessory ...	ORPHA:564
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Increased urinary glycerol, Intermittent hyperventilation, Epi...	ORPHA:348
Seckel Syndrome 9	Protruding ear, Convex nasal ridge, Congenital diaphragmatic hernia, Micrognathia	OMIM:616777
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Cleft palate, Congenital diaphragmatic hernia, Anal atresia	ORPHA:95706
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Mungan Syndrome	Abnormality of the autonomic nervous system, Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma, Lymphopenia	ORPHA:2136
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertr...	ORPHA:2348
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl...	OMIM:617600
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Rectal prolapse, Abnormality of the ureter, Multiple g...	OMIM:175200
Sotos Syndrome	Posteriorly rotated ears, Low-set ears, Otitis media, Conductive hearing impairment, Macrotia	OMIM:117550
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Cleft upper lip, Pectus excavatum, L...	OMIM:614294
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Recurrent fractures, Micrognathia, Underdeveloped nasal alae, High,...	ORPHA:2108
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, A...	ORPHA:95699
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ...	ORPHA:177901
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsa...	OMIM:276820
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ...	ORPHA:98754
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Spinal ...	OMIM:277600
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility...	OMIM:313900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Flexion contracture, Macr...	ORPHA:258
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Anteverted nares, Micrognath...	OMIM:619879
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Distal amyotrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in...	ORPHA:99949
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia	OMIM:620296
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Palpitations, Bradycardia	ORPHA:91355
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia,...	OMIM:613406
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Fanconi Anemia	Abnormal eyelid morphology, Micrognathia, Leukopenia, High palate, Abnormality of the hypothalamu...	ORPHA:84
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Opisthotonus, Hypoplasia of first ribs, Choanal stenosis, Shallo...	OMIM:269150
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Short philtrum, High palate, Micr...	OMIM:135900
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Thickened ribs, Facial hypotonia, Craniosynostosis, Joint stiffness, Pe...	ORPHA:309282
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Aggressive behavior, Impaired pain sensation, Tongue thrusting, Protru...	OMIM:606232
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ...	ORPHA:98793
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ...	ORPHA:177904
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Leukocytosis, Sple...	OMIM:615895
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Scrub Typhus	Renal insufficiency, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension	ORPHA:83317
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Renal tubula...	OMIM:619575
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Cranial nerve compression, Leukopenia, High palate, Conductive hearing impairment, ...	ORPHA:2785
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Microp...	OMIM:618820
Restrictive Dermopathy 2	Microretrognathia, Convex nasal ridge, Rectal prolapse, Hypoplastic facial bones	OMIM:619793
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Flaring of lower rib c...	OMIM:250250
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Abnormal tibia morphology, Flexion contracture, Osteoart...	ORPHA:666
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Optic atrophy, Dysphagia, Macrotia, A...	ORPHA:496641
Robin Sequence With Cleft Mandible And Limb Anomalies	Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate, Short tibia...	OMIM:268305
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Macrotia, Prominent antihelix, Inappropriate laughter, Failure to thrive, Abnormal repetitive man...	OMIM:615802
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Protruding tongue, Cupped ear, Wide nas...	OMIM:617062
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, L...	ORPHA:47612
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy...	OMIM:300842
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, Chron...	OMIM:300400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Supernumerary nipple, Micrognathia, Anteverted ears, Crypto...	OMIM:613884
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Diets-Jongmans Syndrome	Thin upper lip vermilion, Hypospadias, Congenital diaphragmatic hernia, Broad nasal tip, Cryptorc...	OMIM:618846
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Everted lower lip vermilion, Dense calvaria, Joint stiffness	OMIM:252930
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Abnormal eyelid morphology, Micrognathia, ...	ORPHA:2556
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Proximal Spinal Muscular Atrophy	Atrial septal defect, Bradycardia	ORPHA:70
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Asthma, Nasal Polyps, And Aspirin Intolerance	Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction	OMIM:208550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg...	ORPHA:85167
Larsen Syndrome	Conductive hearing impairment	ORPHA:503
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Tetrasomy 9P	Myositis, Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Shor...	ORPHA:3310
Immunodeficiency 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:615816
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Hiatus h...	OMIM:304150
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of...	ORPHA:391428
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, H...	OMIM:618426
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Melioidosis	Shock, Pneumonia, Abnormality of the spleen, Acute infectious pneumonia, Abnormal parotid gland m...	ORPHA:31202
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,...	ORPHA:35858
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Proximal muscle we...	ORPHA:99956
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Short neck, Downturned corner...	ORPHA:199
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertension, Cirrhosis...	ORPHA:79083
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Otopalatodigital Syndrome, Type I	Conductive hearing impairment	OMIM:311300
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, High palate, Downslanted palpebral fissures, Bifid uvula	OMIM:155145
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Widely spaced teeth, Conductive hearing impairmen...	ORPHA:709
Autism, Susceptibility To, 3	Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased he...	OMIM:619259
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, At...	OMIM:300986
Brittle Cornea Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:90354
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, Aplasia of the ulna, High, narrow palate, Cryptorc...	ORPHA:2879
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Familial Mediterranean Fever	Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, Vasculitis...	ORPHA:342
Slc39A8-Cdg	Sudden episodic apnea, Elbow flexion contracture, Knee flexion contracture, Low-set ears, Limb un...	ORPHA:468699
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis mo...	ORPHA:3404
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept...	ORPHA:84064
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Peripheral demyelination, EEG abnormality	ORPHA:206448
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T...	ORPHA:781
Paternal Uniparental Disomy Of Chromosome 6	Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Prominent nose, Prec...	ORPHA:96191
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Thick nasal alae, ...	ORPHA:744
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Micrognathia, Dysmetria, Protruding ear, Downturned corners of mouth, Gait ataxia, Han...	OMIM:614756
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Renal dysplasia, Multicystic kidney dysplasia, Renal insuffi...	OMIM:107480
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr...	OMIM:203500
Lelis Syndrome	Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion	ORPHA:140936
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Myocarditis, Mediastin...	ORPHA:809
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Kcnq2-Related Epileptic Encephalopathy	Poor gross motor coordination, Apnea	ORPHA:439218
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon...	OMIM:619179
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Mesomelia-Synostoses Syndrome	Microretrognathia, Telecanthus, Hearing impairment, Micrognathia, Micromelia, Short metatarsal, H...	OMIM:600383
Fraser Syndrome 1	Abnormal pinna morphology, Hypospadias, Renal hypoplasia/aplasia, Cupped ear, Renal hypoplasia, A...	OMIM:219000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Diastasis recti, Unilateral hypoplasia of pectoralis major mu...	ORPHA:1521
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Williams-Beuren Syndrome	Hypercalciuria, Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in inf...	OMIM:194050
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Short neck, Micrognathia, Bilateral cleft lip and palate, Bifid tongue	ORPHA:2001
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, L...	OMIM:615530
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, Abnormal repetitive mannerisms, Ataxia, Protruding ear	ORPHA:2479
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Lumbar hyperlordosis, Dental crowding, Hyperlordosis, Crypto...	OMIM:616078
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unconjugated hyper...	OMIM:613658
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Focal Dermal Hypoplasia	Ureteral duplication, Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia...	OMIM:305600
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Optic nerve hypoplasia, Sensorineural hearing impairment, Bilateral ...	ORPHA:300570
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Micrognathia, Aplasia/Hypoplasia involving the...	ORPHA:1662
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreatitis, Thrombocy...	ORPHA:544482
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Scimitar Syndrome	Hypoplasia of the diaphragm, Abnormality of the vertebral column, Abnormal hemidiaphragm morphology	ORPHA:185
Vacterl Association With Hydrocephalus	Renal hypoplasia	OMIM:276950
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia	ORPHA:163979
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Bulbous nose, Sensorineural hearing impairment, Hydrocephalus, Wide nasal bridge,...	ORPHA:250989
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Failure to thrive, Abnormal repetitive mannerisms, Agitation	ORPHA:927
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,...	ORPHA:97214
Achondroplasia	Conductive hearing impairment, Recurrent otitis media	OMIM:100800
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia	ORPHA:1055
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Prolonged neonatal jaundice	ORPHA:90673
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Syncope, Rena...	ORPHA:71273
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Cerebrooculonasal Syndrome	Conductive hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears	OMIM:605627
Aspergillosis	Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology, Abnormal esophagus morphology	ORPHA:1163
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Flexion contracture, Congenit...	ORPHA:158684
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con...	ORPHA:90321
Hallermann-Streiff Syndrome	Natal tooth, Wormian bones, Selective tooth agenesis, Pectus excavatum, High, narrow palate, Supe...	OMIM:234100
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips...	ORPHA:213
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Limb d...	ORPHA:457351
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid...	ORPHA:2137
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Accessory oral frenulum, Hamartoma of tongu...	ORPHA:434179
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Conductive hearing impairment, Recurrent otitis media	ORPHA:2502
Shwachman-Diamond Syndrome 2	Death in infancy, Anterior rib cupping, Metaphyseal widening, Death in childhood, High palate, St...	OMIM:617941
Oculodentodigital Dysplasia	External ear malformation, Optic atrophy, Abnormality of the ear, Conductive hearing impairment, ...	ORPHA:2710
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia	OMIM:617053
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
Jeavons Syndrome	Abnormal head movements	ORPHA:139431
Meier-Gorlin Syndrome 6	Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Posteriorly rot...	OMIM:616835
Isolated Thyroid-Stimulating Hormone Deficiency	Macroorchidism, Bradycardia, Prolonged neonatal jaundice	ORPHA:90674
Macrophage Activation Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
8Q24.3 Microdeletion Syndrome	Hyperactivity, Small for gestational age, Posteriorly rotated ears, Asymmetry of the ears, Optic ...	ORPHA:508488
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention d...	ORPHA:476126
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Narrow mouth, Thoracolumbar ...	OMIM:230600
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini...	OMIM:242670
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Microg...	OMIM:301043
Congenital Tracheal Stenosis	Respiratory distress, Abnormality of the kidney, Abnormal stomach morphology, Neonatal asphyxia, ...	ORPHA:141127
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs	OMIM:614857
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Small for gestational age, Hypospadias, Unilateral renal agenesis, Renal cyst,...	ORPHA:464311
Limb Body Wall Complex	Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bone...	ORPHA:2369
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Abnormal temper tantrums, Low-set ears, Abnormal repetitive mannerisms	ORPHA:457279
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen...	ORPHA:71493
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ...	OMIM:613812
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t...	OMIM:615948
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hype...	ORPHA:98784
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears	OMIM:235510
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ventilator...	OMIM:619482
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Posteriorly rotated ears, Hypospadias, Prominent nose, Micrognathia, Bulbous n...	OMIM:619268
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Pgm3-Cdg	Conductive hearing impairment, Mild neurosensory hearing impairment, Chronic otitis media, Sensor...	ORPHA:443811
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality...	ORPHA:289
Norrie Disease	Narrow nasal bridge, Diabetes mellitus, Clonus, Cryptorchidism, Sensorineural hearing impairment,...	ORPHA:649
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, High, narrow pal...	ORPHA:3472
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:168558
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures	ORPHA:405
Gitelman Syndrome	Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp...	ORPHA:358
Cystic Fibrosis	Nasal polyposis, Sinusitis, Meconium ileus, Malabsorption, Reduced forced expiratory volume in on...	ORPHA:586
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:215150
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Neonatal respiratory distress, Optic nerve hypoplasia, Micrognathia, Cryptorchi...	OMIM:620025
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan...	OMIM:303600
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Hypercapnia, Respiratory insufficiency, Ankle clonus, Apneic episodes in infancy, Hypertro...	OMIM:618222
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ...	OMIM:617088
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He...	ORPHA:199299
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Protruding ton...	OMIM:619777
Bosma Arhinia Microphthalmia Syndrome	Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal,...	OMIM:603457
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Small for gestational age, Hypospadias, Unilateral renal agenes...	ORPHA:464306
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of...	OMIM:208900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp...	OMIM:614557
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Membranoproliferative glomerulonephritis, Micrognathia, Underdeveloped nasal alae, Mod...	OMIM:619525
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:289548
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypospadias, Decreased response to growth hormone stimul...	OMIM:180500
Acro-Renal-Ocular Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic disc coloboma, Aganglionic...	ORPHA:959
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Hematoch...	OMIM:175050
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Downturned corners of mouth, Exaggerated median...	ORPHA:2729
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red ce...	OMIM:613179
Giant Axonal Neuropathy	Abnormality of the Achilles tendon, Limb muscle weakness, Abnormal pituitary gland morphology, Fa...	ORPHA:643
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Juncti...	OMIM:309801
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic c...	OMIM:218330
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Prominent antihelix, Conductive heari...	ORPHA:466943
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ...	OMIM:620242
Codas Syndrome	Conductive hearing impairment, Crumpled ear, Sensorineural hearing impairment	OMIM:600373
Pitt-Hopkins Syndrome	Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Micropenis, Abnormal repetit...	OMIM:610954
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of facial mu...	OMIM:617239
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splen...	OMIM:615688
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetria, Gait ataxia, T...	OMIM:617330
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Chand Syndrome	Hydroureter, Depressed nasal bridge, Ataxia, Short fifth metatarsal, Cleft palate, Ankyloblepharo...	ORPHA:1401
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Micropenis, Low-set ears, Vesicoureteral reflux, Overfolded helix, Pelvic kidney, Abnorm...	OMIM:618653
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilat...	ORPHA:468631
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina...	OMIM:258040
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Renal cyst, Microtia, Polycystic kidney dysplasia, Low-set ears, Micropenis, Fa...	OMIM:210710
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Dilatation of renal calices, Low-set ears, Dysphagia, Failure...	ORPHA:319182
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Death in infancy, Abnormal dental enam...	ORPHA:534
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi...	OMIM:105210
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Pancytopenia, Homocystinuria, Megaloblastic anemia, Cystathioninuria, T...	OMIM:277380
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Wide mouth, Widely sp...	ORPHA:98794
Brucellosis	Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Epididymitis, Ly...	ORPHA:1304
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Urinary incontinence, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnor...	ORPHA:447997
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly	OMIM:620306
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Abnormal form of the vertebral bodies, Hepatosplenomegaly...	ORPHA:93399
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Microphthalmia, Syndromic 6	Failure to thrive, Posteriorly rotated ears, Uplifted earlobe, Renal hypoplasia, Protruding ear, ...	OMIM:607932
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:411511
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Nephroblastoma, Hyperesthesia, Renal transitional cell carcinoma	ORPHA:2874
Psoriasis 14, Pustular	Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia, Oral leukoplakia	OMIM:148210
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Dysmetria, Facial diplegia, Attention deficit hyperactivity disorder, Trunca...	OMIM:619121
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Macrotia, Optic atroph...	OMIM:619512
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u...	ORPHA:653
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
3Mc Syndrome 1	Conductive hearing impairment, Hearing impairment	OMIM:257920
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem...	ORPHA:90041
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil...	ORPHA:3260
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Otitis media, Compulsive behaviors, Micropenis, Decreased body weight, Abno...	OMIM:619475
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Thick lower lip vermilion, Broad ischia, Diaphyseal dysp...	OMIM:619727
Feingold Syndrome Type 1	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:391641
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Tapered finger, Cleft lip, Hip dislocation, Cleft palate, Genu valgum, Hip dysplasia, Everted low...	OMIM:301066
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Hypoglossia-Hypodactylia	Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia	OMIM:103300
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ...	ORPHA:89842
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Monosomy 18Q	Sensorineural hearing impairment, Macrotia, Bilateral conductive hearing impairment	ORPHA:1600
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms	OMIM:618067
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Os...	OMIM:612301
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia	ORPHA:572013
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Adrenal hypoplasia, Alobar holop...	OMIM:157170
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis, Dysphagia	OMIM:609454
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,...	OMIM:607326
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Neph...	OMIM:269700
Hunter-Macdonald Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:611962
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Hip subluxation, ...	OMIM:182250
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Urinary incontinence	ORPHA:168782
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ureteropelvic junction obstruction, Exaggerated startle response, Posteriorly...	OMIM:619522
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Low-set ears, Adrenal glan...	OMIM:611812
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Microphthalmia, Syndromic 1	Hydroureter, Abnormal pinna morphology, Aganglionic megacolon, Hypospadias, Aggressive behavior, ...	OMIM:309800
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ...	OMIM:133540
Sotos Syndrome	Ureteral duplication, Tremor, No permanent dentition, Flexion contracture, Gastroesophageal reflu...	ORPHA:821
Cockayne Syndrome A	Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ...	OMIM:216400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Hydroureter, Abnormal nasolacrimal system morphology, Choanal atresia, Camptodact...	ORPHA:2273
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cholest...	OMIM:300972
Cystic Fibrosis	Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced v...	OMIM:219700
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa...	OMIM:619472
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Retrocollis, Dysphagia	OMIM:601104
Oculodentodigital Dysplasia	Conductive hearing impairment, Abnormal pinna morphology	OMIM:164200
Joubert Syndrome 6	Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Ataxia, Nephronophthisis	OMIM:610688
Mucolipidosis Type Ii	Conductive hearing impairment, Sensorineural hearing impairment, Otitis media	ORPHA:576
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Nephrolithiasis, Polycystic o...	OMIM:608594
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Cowden Syndrome	Pectus excavatum, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal p...	ORPHA:201
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Obsessive-compulsive trait, Abnormal repetitive manne...	ORPHA:168491
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Renal dysplasia, Obesity, Renal cyst, Hypercalciuria, Nephrocalcinosis, Congenital megaureter, Ab...	ORPHA:369837
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia, Abnormality of the ova...	ORPHA:2975
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy...	OMIM:222700
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Acrofrontofacionasal Dysostosis 1	Mixed hearing impairment, Optic atrophy	OMIM:201180
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Agel Amyloidosis	Tongue atrophy, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Keratoconj...	ORPHA:85448
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Craniosynostosis, Oral mucosal blisters, Smooth tongue, Enamel hypo...	ORPHA:79396
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens...	ORPHA:139411
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Kyphoscoliotic Ehlers-Danlos Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Hearing impairment	ORPHA:536545
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypogonadotropic hypogonadism, Bradycardia, Prolonged neonatal jaundice	ORPHA:226307
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive beh...	OMIM:620330
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Congenital Sialidosis Type 2	Protruding tongue, Hydrocephalus, Gingival overgrowth, Hepatosplenomegaly, Low-set ears, Umbilica...	ORPHA:93400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage	ORPHA:3042
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma...	ORPHA:1572
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Thoracoabdominal Syndrome	Cleft palate, Congenital diaphragmatic hernia, Cleft upper lip	OMIM:313850
Heart Defects, Congenital, And Other Congenital Anomalies	Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Cervi...	OMIM:600001
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho...	OMIM:611881
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,...	ORPHA:353281
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve...	ORPHA:365
Angelman Syndrome	Mandibular prognathia, Precocious puberty in females, Protruding tongue, Wide mouth, Widely space...	ORPHA:72
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary	ORPHA:247768
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Abnormality of the spleen, Abnormality of the parathyroid gla...	ORPHA:2552
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external...	ORPHA:90794
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,...	ORPHA:171
Down Syndrome	Conductive hearing impairment, Microtia, Aganglionic megacolon	OMIM:190685
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, V...	OMIM:619381
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micropenis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Muir-Torre Syndrome	Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer	ORPHA:587
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification, Short thorax,...	ORPHA:93271
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, Lymphadenopathy, Abn...	ORPHA:32960
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Dental c...	OMIM:225400
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho...	ORPHA:97282
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Optic atrophy, Renal hypoplasia, Abdominal obesity, Micropenis	OMIM:619321
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Bowel incontinen...	ORPHA:93930
Cardiac-Valvular Ehlers-Danlos Syndrome	Severe conductive hearing impairment	ORPHA:230851
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Conductive hearing impairment, Overfolded helix, Uplifted earlobe	OMIM:280000
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Posteriorly rotated ears, Anteverted ears, Abnormal repetitiv...	OMIM:616268
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Van Esch-O'Driscoll Syndrome	Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit...	OMIM:301030
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole...	ORPHA:97261
Diamond-Blackfan Anemia 1	Failure to thrive, Renal hypoplasia	OMIM:105650
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho...	ORPHA:97278
Aicardi-Goutières Syndrome	Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chron...	ORPHA:51
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Congestive heart failure, Hepatic fi...	ORPHA:14
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telang...	OMIM:613471
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Hypochromic micr...	ORPHA:97283
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Erosion of oral mucosa, Renal insufficiency, Foot joint contractu...	ORPHA:79408
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Hypoplasia of the uterus, Hypoplastic labia majora, ...	OMIM:618419
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Cardiomegaly, Congestive heart failure, Splenomegaly, Epididymit...	OMIM:256040
Niemann-Pick Disease, Type C2	Ataxia, Abnormal repetitive mannerisms, Dysphagia, Dystonia	OMIM:607625
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Low-set ears, Protruding tongue	OMIM:620352
Turnpenny-Fry Syndrome	Conductive hearing impairment, Satyr ear, Microtia, Low-set ears	OMIM:618371
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou...	ORPHA:158668
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ea...	OMIM:216340
Johanson-Blizzard Syndrome	Hepatomegaly, Increased VLDL cholesterol concentration, Portal hypertension, Conjugated hyperbili...	OMIM:243800
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Erythematous oral mucosa, Furrowed tongue, Hematuria, Keratoconjunctivitis, Hearing...	OMIM:158310
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Micrope...	OMIM:619005
Duplication Of The Pituitary Gland	Thoracic scoliosis, Abnormality of masseter muscle, Abnormal pituitary gland morphology, Abnormal...	ORPHA:314621
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Sandifer Syndrome	Abnormal head movements, Torticollis	ORPHA:71272
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ...	ORPHA:97280
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Thrombocytopenia...	ORPHA:79282
Vater/Vacterl Association	Syndactyly, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radius, Abnormal ri...	OMIM:192350
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Cervical ribs, Intestinal malrotation, Congenital diaphragmatic hernia	ORPHA:2255
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Cleft palate, Neutropeni...	ORPHA:79284
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Parathyroid Carcinoma	Pancreatitis, Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia	ORPHA:143
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353277
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Obesity, Head-banging, Abnormal temper tantrums, Compulsive behaviors,...	ORPHA:177907
Floating-Harbor Syndrome	Conductive hearing impairment, Recurrent otitis media, Posteriorly rotated ears, Low-set ears	OMIM:136140
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, Opis...	ORPHA:217253
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Insulinoma, Thymoma, Extrahepatic cholestasis, Abnormality of pancreas physiology	ORPHA:276152
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Peripapillary atrophy, Mixed hearing impairment, Posteriorly rotated ears, Low-set ears	ORPHA:536467
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Sensorineural hearing impairment, Protruding ear, Truncal obesity, Self-injurious behavio...	OMIM:612474
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Ehlers-Danlos Syndrome, Vascular Type	Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cystocele, Arte...	OMIM:130050
Kawasaki Disease	Proteinuria, Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopathy, Cheilitis, Sterile py...	ORPHA:2331
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms, Horseshoe kidney, Opisthotonus	ORPHA:508533
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis	ORPHA:457284
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Carney Complex	Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O...	ORPHA:1359
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia, Extrahepatic cholestasis	ORPHA:913
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Bloo...	ORPHA:436252
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Neurooculorenal Syndrome	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:620305
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Coccidioidomycosis	Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metacarpal morpholo...	ORPHA:228123
Branchiootic Syndrome 3	Sensorineural hearing impairment	OMIM:608389
Otopalatodigital Syndrome, Type Ii	Conductive hearing impairment, Posteriorly rotated ears, Low-set ears	OMIM:304120
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Insulinoma, Hypercalcemia, Thymoma	ORPHA:652
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Conductive hearing impairment, Low-set ears, Simple ear	OMIM:201750
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul...	OMIM:309000
Mowat-Wilson Syndrome	Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Conductive hearing impairment, Web...	ORPHA:2152
Plague	Chapped lip, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Enterocolitis, Enlarged mesen...	ORPHA:707
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, ...	ORPHA:261537
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Neu-Laxova Syndrome 1	Ventricular septal defect, Renal agenesis, Bifid uterus, Cryptorchidism, Transposition of the gre...	OMIM:256520
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k...	ORPHA:261552
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Hypospadi...	ORPHA:286
Loeys-Dietz Syndrome	Cardiac arrest, Uterine rupture	ORPHA:60030
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Abnormal repetitive mannerisms, Proteinuria	OMIM:616682

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.

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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

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Gene: Six1 MGI:102780

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

X-ray

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Six1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data