Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Bilateral single transverse palmar crea... |
ORPHA:2471 |
Rubinstein-Taybi Syndrome 2 |
|
Prominent nose, Micrognathia, High palate, Prominent fingertip pads, Posterior helix pit, Syndact... |
OMIM:613684 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th fing... |
OMIM:619293 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Short stature, Kyphoscoliosis, Prominent nose, Anteverted ears, Agg... |
OMIM:615541 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Downtu... |
ORPHA:1327 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Micrognath... |
ORPHA:2980 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Epicanthus, Anteverted nares, Tapered finger, Long fingers, Unsteady gait,... |
OMIM:618292 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Flexion contracture, Short stature, Tapered finger, Cryptorchidism, Obesit... |
OMIM:615547 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Depressed nasa... |
ORPHA:61 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Depressed nasal bridge, Anteverted nares, Tapered finger, Almond-shaped palpebr... |
ORPHA:171829 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Recurrent respiratory infections, Hyperactivity, Epicanthus, Depressed nasal bridge, Small for ge... |
ORPHA:85288 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, H... |
ORPHA:251028 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Elevated cir... |
OMIM:101800 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Protruding ear, Cone-s... |
OMIM:190350 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Ptosis, Posteriorly rotated ears, Dental crowding, Micrognat... |
OMIM:614669 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Prominent nose, Microg... |
OMIM:210600 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Short stature, Underdeveloped nasal alae, Micrognathia, Short neck, Diastema, D... |
ORPHA:436245 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Horner syndrome... |
OMIM:141300 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Dental crowding, Short stature, Small for gestational age, ... |
OMIM:610883 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Short stature,... |
OMIM:300867 |
Muenke Syndrome |
|
Ptosis, Broad hallux, Hearing impairment, Malar flattening, Capitate-hamate fusion, Sensorineural... |
OMIM:602849 |
Man1B1-Cdg |
|
Prominent nose, Short neck, Short philtrum, Clinodactyly of the 5th finger, Sparse eyebrow, 2-3 t... |
ORPHA:397941 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Large earlobe, Short columella, ... |
OMIM:155050 |
Ck Syndrome |
|
Epicanthus, Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Dental crowding, Agg... |
OMIM:300831 |
Craniosynostosis 3 |
|
Hallux valgus, Brachydactyly, Single transverse palmar crease, Sagittal craniosynostosis, Dental ... |
OMIM:615314 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te... |
OMIM:257850 |
Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner... |
OMIM:123450 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Decreased palmar creases, Micrognathia, Deep philtrum, Short philtrum, Clinodactyly of the 5th fi... |
OMIM:615834 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Prominent nose, ... |
ORPHA:763 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Epicanthus, Ataxia, Sparse eyebrow, High, narrow palate, Dental malocclusion, Brach... |
OMIM:619692 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Micrognathia, Congenital contracture, Short philtrum, Joint contracture... |
ORPHA:352490 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Downturned corners of mouth, Pulmonary artery atresia, Short phalanx of... |
OMIM:616894 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Short stature, Underdeveloped nasal alae, Dental malocclusion, Upslanted palpeb... |
OMIM:616108 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Dental crowding, Micrognathia, Synophrys, Downturned corners of mouth, Compulsive behaviors, Ante... |
OMIM:615761 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Xerostomia, Downturned corners of mouth, Lethargy, Premature adrenarche, Hypothalamic... |
ORPHA:398079 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped... |
OMIM:617883 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Tented upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, ... |
OMIM:606407 |
Trisomy 18P |
|
Telecanthus, Abnormal pinna morphology, Short stature, Highly arched eyebrow, Underdeveloped nasa... |
ORPHA:1715 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Hemivertebrae, Protru... |
OMIM:156200 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Micrognathia, Joint stiffness, Cryptorchidism, Cleft palate, Protruding ear, Tooth... |
ORPHA:1166 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, Synophrys, High palate, Conductive hearing impairment, Clinodactyly ... |
OMIM:617877 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Hypo... |
OMIM:611174 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Sandal gap, Ataxia, Highly arched eyebrow, Macrodontia... |
ORPHA:228402 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, S... |
OMIM:176270 |
Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Epicanthus, Anteverted nares, Depressed nasa... |
OMIM:234250 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ... |
ORPHA:3473 |
14Q11.2 Microduplication Syndrome |
|
Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Aggressive be... |
ORPHA:261229 |
Three M Syndrome 2 |
|
Short neck, Protruding ear, High palate, Intrauterine growth retardation, Scapular winging, Lumba... |
OMIM:612921 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Blepharophimosis, Open bite, De... |
ORPHA:3079 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Synophrys, Kyphosis, Thick lower l... |
OMIM:618658 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Short neck, Absent frontal sinuses, Synophrys, High palate, Conductive ... |
OMIM:102500 |
Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:254516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Epicanthus, Hyperactivity, Depressed nasal bridge, Short stature, Kyphosis, Small hand, Hip dislo... |
OMIM:300434 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Protruding ear, High palate, Widely spaced teeth, Clinodactyly of the 5th finger, A... |
OMIM:606232 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture... |
OMIM:617258 |
Short Syndrome |
|
Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Glucose intolerance, Hyperglycemia... |
OMIM:269880 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Epicanthus, Aggressive behavior, Dental malocclusion, Wide nasal bridge... |
OMIM:619149 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Short neck, Cryptorchidism, Ky... |
OMIM:611890 |
Takenouchi-Kosaki Syndrome |
|
Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space... |
OMIM:616737 |
Momo Syndrome |
|
Short neck, Large for gestational age, Femoral bowing, Eyelid coloboma, High palate, Abnormal bon... |
ORPHA:2563 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Downturned corners of mouth, ... |
ORPHA:398069 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Dental crowding, Single transverse palmar crease, Short statur... |
OMIM:253250 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ... |
ORPHA:1354 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, High palate, Decreased body weight, Wrist flexio... |
ORPHA:800 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Shallow orb... |
OMIM:616580 |
Hypotonia-Cystinuria Syndrome |
|
Epicanthus, Failure to thrive, Cystinuria, Growth delay, Retrognathia, Polyphagia, Ptosis |
ORPHA:163690 |
Urban-Rogers-Meyer Syndrome |
|
Micrognathia, Short neck, Clinodactyly of the 5th finger, Short stature, Cryptorchidism, Aplasia/... |
ORPHA:3409 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Cryptorchidism,... |
OMIM:301900 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... |
OMIM:234100 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Arthrogryposis multiplex cong... |
OMIM:608931 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Premature thelarche, Prominent nose, Bilateral ... |
OMIM:180849 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Broad hallux, Wide nasal ridge, Kyphoscoliosis, Malar flattening, Short stature, High, narrow pal... |
ORPHA:3433 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Metaphyseal widening,... |
ORPHA:93357 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Oligodontia, Everted lo... |
ORPHA:276630 |
X-Linked Intellectual Disability, Cabezas Type |
|
Prominent nose, Short neck, Synophrys, Hyperhidrosis, High palate, Short philtrum, Short palm, Cl... |
ORPHA:85293 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hyp... |
OMIM:115150 |
Diastrophic Dysplasia |
|
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... |
OMIM:602483 |
Noonan Syndrome 4 |
|
Epicanthus, Depressed nasal bridge, Posteriorly rotated ears, Short stature, Short neck, Sparse e... |
OMIM:610733 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Shallow o... |
OMIM:182212 |
Ck Syndrome |
|
Long toe, Microretrognathia, Epicanthus, Hyperactivity, Posteriorly rotated ears, Prominent nasal... |
ORPHA:251383 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Epicanthus, Telecanthus, Short stature, Micrognathia, Abnormality of the dentition, Cryptorchidis... |
ORPHA:85321 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Prominent nasal bridge, Micrognathi... |
ORPHA:1131 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Broad nasal tip, Achi... |
OMIM:619719 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Downturned corners... |
ORPHA:739 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Short neck, Thick lower lip vermilion, ... |
OMIM:157980 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, High palate, Tapered finger, Respiratory tract... |
OMIM:618975 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Episod... |
ORPHA:276580 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Synophrys, Downturned corners of mouth, Oligodontia, Short philtrum, De... |
ORPHA:391408 |
Larsen-Like Syndrome |
|
Joint laxity, Short stature, Kyphoscoliosis, Conductive hearing impairment, Dental malocclusion, ... |
OMIM:608545 |
Cebalid Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Hi... |
OMIM:618774 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Micrognath... |
ORPHA:2959 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Patellar hypoplasia, Protruding ear, Dysmetria, Thoracic... |
ORPHA:3041 |
Whistling Face Syndrome, Recessive Form |
|
Micrognathia, Short neck, Knee flexion contracture, High palate, Ulnar deviation of finger, Narro... |
OMIM:277720 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Synophrys, Oligodontia, High pala... |
OMIM:617061 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Ataxia, Micrognathia, Hypoglycemia, Kypho... |
ORPHA:48431 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Joint st... |
ORPHA:40 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cu... |
OMIM:101200 |
Harrod Syndrome |
|
Arachnodactyly, Long nose, Cryptorchidism, Kyphosis, Dental malocclusion, Protruding ear, Abnorma... |
ORPHA:2115 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Joint laxity,... |
ORPHA:94065 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Short stature, Micromelia, Underdeveloped nasal alae, Cryptorc... |
OMIM:180870 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Deep philtrum, Growth d... |
ORPHA:505652 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit... |
OMIM:614962 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Downturn... |
ORPHA:487796 |
Fetal Akinesia Deformation Sequence 4 |
|
Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Kyphosis,... |
OMIM:618393 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg... |
ORPHA:2635 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Large for gestational age, Episodic hyperhidrosis, H... |
ORPHA:276575 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... |
OMIM:300148 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Pulmonary artery atresia, Conductive ... |
ORPHA:2876 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, High palate, ... |
OMIM:249420 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Ab... |
OMIM:144750 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip... |
OMIM:300602 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglycemic seizures, ... |
ORPHA:276556 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... |
OMIM:277590 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Single transverse palmar crease, Micrognathia, Prelingual sensorineural hearing impairment, Conge... |
ORPHA:73272 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Severe short stature, Micrognathia, Carious teeth, Cryptorchid... |
ORPHA:2617 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Posteriorly rotated ears, Small for gestational age, Short stature, Kyphosis, Redu... |
OMIM:618392 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever... |
OMIM:227330 |
Huntington Disease |
|
Decreased body mass index, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Abn... |
ORPHA:399 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Conductive hearing impairment, Clinodactyly of t... |
ORPHA:3082 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Inability to walk, Kyphosis, High palate, Gait disturbance, Scoliosis, Joint contracture |
OMIM:611225 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Prominent nose, Synophrys, Camptodactyly of t... |
OMIM:300280 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Protruding ear, Downturned corners of mouth, Hyperhidrosis, Vert... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Protruding ear, Downturned corners of mouth, Hyperhidrosis, Vert... |
ORPHA:352665 |
Cerebellofaciodental Syndrome |
|
Short stature, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, A... |
OMIM:616202 |
4Q21 Microdeletion Syndrome |
|
Micromelia, Short neck, Synophrys, Downturned corners of mouth, Short philtrum, Short palm, Abnor... |
ORPHA:238750 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Micrognathia, Short neck, Anteverted nares, Tapered finger, Spar... |
ORPHA:444072 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Con... |
OMIM:300373 |
Osteogenesis Imperfecta |
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Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical k... |
ORPHA:666 |
Frank-Ter Haar Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger... |
ORPHA:137834 |
Turnpenny-Fry Syndrome |
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Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Epicanthus, Premature ovarian insufficiency, Overlapping toe, Hearing impairment, Endometriosis, ... |
ORPHA:363444 |
Coffin-Lowry Syndrome |
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Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Barber-Say Syndrome |
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Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
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Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Synophrys, Wide mouth, Truncal obesity... |
ORPHA:2429 |
Oliver Syndrome |
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Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... |
ORPHA:2920 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Prominent nose, Synophrys, Short philtrum, Pulmonary artery atresia, Long toe, Underfolded helix,... |
OMIM:618316 |
Microphthalmia, Syndromic 2 |
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Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Lat... |
OMIM:300166 |
Primary Condylar Hyperplasia |
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Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Leptin Receptor Deficiency |
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Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Brachyolmia Type 1, Hobaek Type |
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Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Beaulieu-Boycott-Innes Syndrome |
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Premature ovarian insufficiency, Endometriosis, Micrognathia, Long nose, Carious teeth, Velophary... |
OMIM:613680 |
Cleft Palate, Isolated |
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Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Mccune-Albright Syndrome |
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Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Prominent nasal bridge, Single transverse palmar crease, Short neck, Cryptorchidism, Kyphosis, Fl... |
ORPHA:178148 |
Endocardial Fibroelastosis |
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Low-set, posteriorly rotated ears, Telecanthus, Sandal gap, Hypoglycemia, Micrognathia, Cryptorch... |
ORPHA:2022 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
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Micrognathia, Synophrys, Protruding ear, High palate, Short philtrum, Compulsive behaviors, Clino... |
OMIM:618443 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Unilateral ... |
OMIM:618727 |
Schwartz-Jampel Syndrome, Type 1 |
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Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Micrognathia, Deep philtrum, Downturned corners of mouth, Compulsive behaviors, Bifid uvula, Long... |
ORPHA:404440 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... |
ORPHA:93314 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Microretrognathia, Mixed hearing impairment, Scapular winging, Lacrimal duct stenosis, Down-slopi... |
OMIM:615560 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Mandibular prognathia, Gait ataxia, Joint laxity, Hyperactivity, Depressed nasal bridge, Short st... |
OMIM:300354 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... |
ORPHA:353277 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Aggressive behavior, Wide nasal bridge, Obesity, Wide mouth, Bilateral talipes equinovarus, Wide ... |
OMIM:616521 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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Osteopenia, Recurrent respiratory infections, Thin upper lip vermilion, Micrognathia, Deep philtr... |
ORPHA:329178 |
2P15P16.1 Microdeletion Syndrome |
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Protruding ear, High palate, Bilateral single transverse palmar creases, Tapered finger, Sparse e... |
ORPHA:261349 |
Adnp Syndrome |
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Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger morphology, Protrudin... |
ORPHA:404448 |
Sclerosteosis 1 |
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Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, 2-3 finger syndact... |
OMIM:269500 |
19P13.12 Microdeletion Syndrome |
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Short neck, Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger,... |
ORPHA:254346 |
Parastremmatic Dwarfism |
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Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
3M Syndrome |
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Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh... |
ORPHA:2616 |
Luscan-Lumish Syndrome |
|
Mandibular prognathia, Short stature, Aggressive behavior, Long nose, Irregular menstruation, Adv... |
OMIM:616831 |
Ruvalcaba Syndrome |
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Dental crowding, Proximal placement of thumb, Micromelia, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:3121 |
Carpenter Syndrome 2 |
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Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Ectro... |
OMIM:614976 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Prominent nasal b... |
ORPHA:401935 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Obesity, P... |
OMIM:615986 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Depressed nasal b... |
OMIM:313420 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Prominent nose, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostosis of carp... |
ORPHA:1005 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Short stature, Small hand, Narrow palm, Obesity, Short foot, Abnor... |
ORPHA:177910 |
Combined Oxidative Phosphorylation Deficiency 47 |
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Toe syndactyly, Posteriorly rotated ears, Hypoglycemia, Short neck, Cryptorchidism, Sensorineural... |
OMIM:618958 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ... |
OMIM:193700 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f... |
OMIM:601957 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Kyphosis, Joint hyperflexibility, Hypogonadism, Gait disturbance, Cubitus valgus, Decreased testi... |
ORPHA:1875 |
Spermatogenic Failure 57 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Cohen Syndrome |
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Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... |
ORPHA:193 |
Spermatogenic Failure 50 |
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Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Hadziselimovic Syndrome |
|
Epicanthus, Anteverted nares, Posteriorly rotated ears, Prominent nasal bridge, Short stature, Th... |
OMIM:612946 |
Elsahy-Waters Syndrome |
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Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Cutaneous ... |
OMIM:211380 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, High palate, Wi... |
ORPHA:192 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly, Polyph... |
OMIM:617119 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl... |
OMIM:601559 |
Waardenburg Syndrome Type 2 |
|
Telecanthus, Hearing impairment, Sensorineural hearing impairment, Abnormality of the pulmonary a... |
ORPHA:895 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Calcaneovalgus deformity, High palate, Arachnodactyly, Depressed nasal bridg... |
OMIM:612513 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Flexion contracture, Downturned corners of mouth, Microretrognathia, Radial deviation... |
OMIM:301041 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:66628 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
19P13.3 Microduplication Syndrome |
|
Prominent nose, Micrognathia, Short philtrum, Hyperactivity, Precocious puberty, Osteoporosis, Mi... |
ORPHA:447980 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Short stature, Kyphosis, Sensorine... |
OMIM:616756 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Protruding ear, Vertebral segmentation defect, Microdontia, Thick nasal alae... |
ORPHA:96169 |
Faciocardiomelic Syndrome |
|
Osteopenia, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestat... |
OMIM:612731 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:179494 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Micrognathia, Increased vertebral height, Gait ataxia, Downturned corners of mouth, Recurrent hyp... |
OMIM:616817 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Tapered finger, Cryptorchidism, Kyphosis, Self-injurious behavior, Skin-pick... |
OMIM:618512 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Abnormality of the dentition, Joint stiffness, ... |
ORPHA:1548 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... |
OMIM:617602 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Congen... |
ORPHA:1692 |
Martin-Probst Syndrome |
|
Epicanthus, Telecanthus, Short stature, Micrognathia, Cryptorchidism, Sensorineural hearing impai... |
OMIM:300519 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Micrognathia, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpa... |
ORPHA:476126 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Downturned corne... |
ORPHA:261318 |
Zimmermann-Laband Syndrome 2 |
|
Short stature, Underdeveloped nasal alae, Bifid nasal tip, Short neck, Sensorineural hearing impa... |
OMIM:616455 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Ataxia, Kyphosis, Synophrys, Cleft palate, Protruding ear, Gait disturbanc... |
ORPHA:85317 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, High palate, Anteverted nares, Short statu... |
OMIM:314580 |
Pseudoachondroplasia |
|
Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fra... |
OMIM:177170 |
Kleine-Levin Syndrome |
|
Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali... |
ORPHA:33543 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive manner... |
ORPHA:2479 |
Thanatophoric Dysplasia |
|
Brachydactyly, Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint mor... |
ORPHA:2655 |
Noonan Syndrome 1 |
|
Micrognathia, Short neck, High, narrow palate, High palate, Male infertility, Short stature, Cryp... |
OMIM:163950 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... |
OMIM:619797 |
Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Congenital contracture, High palate, Arachnodactyl... |
OMIM:248700 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Malformed lacrimal duct, Cutane... |
OMIM:219000 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Decreased response to growth hormo... |
OMIM:616007 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Obesity, Wide mouth, Inappropriat... |
ORPHA:411515 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Ho... |
OMIM:601552 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Conductive hea... |
ORPHA:353281 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Epicanthus, Posteriorly rotated ears, Hypoglycemia, H... |
OMIM:617190 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Cockayne Syndrome A |
|
Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi... |
OMIM:216400 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Anotia, Atresia of the external a... |
OMIM:608257 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Deep philtrum, Downturned corners... |
ORPHA:251014 |
Congenital Rubella Syndrome |
|
Short stature, Sensorineural hearing impairment, Type I diabetes mellitus, Intrauterine growth re... |
ORPHA:290 |
Winchester Syndrome |
|
Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca... |
OMIM:277950 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Depressed nasal bridge, Short stature, Micrognathia, Abnormality of th... |
ORPHA:3098 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Bilateral single transverse palm... |
ORPHA:3191 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Palpebral ... |
ORPHA:261144 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Clef... |
ORPHA:1926 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Ag... |
ORPHA:72 |
2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypoglycemia, Cystinuria, Growth delay... |
ORPHA:163693 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Pneumonia, Decreased response to... |
ORPHA:1855 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Thin upper lip vermilion, Short stature, Kyphosc... |
ORPHA:412035 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Thin upper lip vermilion, Hypoglycemia, Short stature, Small for gestat... |
ORPHA:231137 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Hy... |
OMIM:610443 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3... |
ORPHA:2712 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Synophrys, Genu valgum, Downturned corne... |
ORPHA:2983 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Short stature, Kyphosis, Hip dysplasia, Tongue fasciculations, Attention deficit hyperact... |
OMIM:620007 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Short neck, Protruding ear, High palate, Abnormal repetitive mannerisms, B... |
OMIM:620330 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ... |
OMIM:300963 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenita... |
OMIM:609384 |
Laron Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Hypog... |
ORPHA:633 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Single transverse palmar crease, Micrognathia, Deep philtrum, Short philtrum, Depressed nasal bri... |
OMIM:619951 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Distichiasis, Delayed ... |
ORPHA:2598 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Long nose, Synophrys, High palate, Clinodactyly of the 5th finger, P... |
OMIM:620113 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Dysmetria, Verte... |
ORPHA:904 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Proximal placement of thumb, Cryptorchidism, Kyphosis, High palate, Short philtrum, L... |
OMIM:615433 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Conical incisor, Joint laxity, Scapular winging, Hyperlordos... |
ORPHA:73223 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Dysphagia |
OMIM:619565 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, High palate, Compulsive beha... |
OMIM:618050 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Difficulty walking, Scoliosis, Hearing impa... |
OMIM:617087 |
Wagro Syndrome |
|
Mandibular prognathia, Dental crowding, Aggressive behavior, Micrognathia, Obesity, Downslanted p... |
OMIM:612469 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... |
ORPHA:536516 |
Monosomy 22Q13.3 |
|
Ptosis, Epicanthus, Hyperactivity, Palpebral edema, Sacral dimple, Dental crowding, Hair-pulling,... |
ORPHA:48652 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Oral-pharyngeal dysphagia, Short neck, High, narrow palate, Synophrys, Prominent prot... |
OMIM:300966 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:133540 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... |
ORPHA:2916 |
Arthrogryposis, Distal, Type 5 |
|
Epicanthus, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Short stature, Kyp... |
OMIM:108145 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal stippling, High palate, Hypopl... |
ORPHA:35173 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Broad-based gait, Scapular winging, Hyperlordosis, Kyphosis, Achi... |
OMIM:615290 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... |
OMIM:301101 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Short neck, Abnormal ... |
ORPHA:236 |
Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Scapular winging, Short stature, Cryptorchidism, Sensorineural... |
ORPHA:500 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Glucose intolerance, Early onset of sexual maturation, Clinodact... |
OMIM:194050 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... |
ORPHA:369873 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal alae, Postnata... |
ORPHA:276432 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Short neck, Hemivertebrae, Abnormal lung lobation, Orofacial cleft, High palate, Sh... |
ORPHA:958 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormality of the tongue, Increased susceptibility to fractures, Weight loss,... |
ORPHA:216866 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Conductive hearing im... |
ORPHA:2710 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Short stature, Slender build, Uplifted earlobe, Aggressive b... |
ORPHA:364028 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Joint stiffness, Carious teeth, Kyphosis, Abnormality of the thyroid gland, Bon... |
ORPHA:2047 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polyd... |
OMIM:300337 |
Mucopolysaccharidosis Type 4 |
|
Short neck, Reduced bone mineral density, Anteverted nares, Abnormal dental enamel morphology, Sh... |
ORPHA:582 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, High palate, Broad hallux phalanx, Short s... |
ORPHA:251071 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Aspiration p... |
ORPHA:354 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Sandhoff Disease |
|
Recurrent respiratory infections, Ataxia, Kyphosis, Failure to thrive, Hearing impairment |
ORPHA:796 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Coarctation of aorta, Growth delay, Lethargy, Abnormal posturing, F... |
OMIM:614857 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Short stature, Short neck, Micrognathia, Hyperlordosis, Kyphosis, Mal... |
ORPHA:2522 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flexion... |
ORPHA:75840 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Depressed nasal ridge, Polyphagia, Abnormal lung lobation, Orofacial cleft, High palat... |
OMIM:607872 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Abnormal pulmonary vein morphology, Widely spaced teeth, Co... |
ORPHA:709 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
Fountain Syndrome |
|
Synophrys, Abnormal form of the vertebral bodies, Spina bifida occulta, Short stature, Gingival o... |
ORPHA:3219 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Short stature, Cryptorchidism, Postaxial foot polydactyly, Deep palmar ... |
OMIM:301056 |
Dysostosis, Stanescu Type |
|
Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Short stature,... |
ORPHA:1798 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, Short stature, Kyphosis, High, narrow palate, Split hand... |
OMIM:618124 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Depressed nasal bridge, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyph... |
OMIM:617988 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypogonado... |
OMIM:603457 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Cryptorchidism, Flexion contracture, Dental malocclusion, Slender toe, High palate |
OMIM:310400 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... |
ORPHA:2215 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Short toe, Sensorin... |
ORPHA:3085 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Mandibular prognathia, Dental crowding, Synophrys, High palate, Short philtrum... |
ORPHA:3063 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasia of t... |
ORPHA:90322 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Craniosynostosis, Abnormal eyelid morphology, Puberty and gonadal disorders, Thyro... |
ORPHA:525731 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Vertebral segmentation defect, Narrow greater scia... |
OMIM:312870 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Ataxia, Single transverse palmar crease, Kyphosis, Synophrys, Unsteady gai... |
OMIM:300861 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Shoulder dislocation, High palat... |
ORPHA:536532 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Osteogenesis Imperfecta, Type Xiii |
|
Femoral bowing, Protruding ear, Reduced bone mineral density, Decreased body weight, Dentinogenes... |
OMIM:614856 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal re... |
ORPHA:1606 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Widely spaced teeth, Narrow greater sciatic notch, Anterior beak... |
OMIM:253220 |
Cockayne Syndrome |
|
Progressive gait ataxia, Congenital contracture, Ataxia, Abnormal dental morphology, Cryptorchidi... |
ORPHA:191 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... |
OMIM:602535 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Short neck, Absent frontal sinuses, Synophrys, Downturned corners of mo... |
ORPHA:955 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility |
OMIM:618323 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... |
OMIM:614188 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Joint contracture, Crypto... |
OMIM:609029 |
Crisponi Syndrome |
|
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture... |
ORPHA:1545 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Single transverse palmar cre... |
OMIM:609128 |
Fraser Syndrome |
|
Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, Malformed lacrimal duct... |
ORPHA:2052 |
Trisomy 13 |
|
Median cleft lip, Bilateral single transverse palmar creases, Abnormality of the dentition, Abnor... |
ORPHA:3378 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck |
ORPHA:2744 |
Distal Triplication 15Q |
|
Telecanthus, Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis,... |
ORPHA:314588 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... |
ORPHA:79345 |
Noonan Syndrome 14 |
|
Short neck, High, narrow palate, Hyperhidrosis, Scapular winging, Short stature, Sparse eyebrow, ... |
OMIM:619745 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky... |
ORPHA:508533 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Waddling gait, Short metacarpal, Rhizomelia, Highly arched eyebrow, Ky... |
ORPHA:263463 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Micrognathia, Long nose, Short neck, Choreoathetosis, High palate, Short philtrum, Clinodactyly o... |
OMIM:620224 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Tracheobronchomalacia, Depressed nasal rid... |
OMIM:616835 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Masa Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Shuffling gait, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft... |
ORPHA:7 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Bradykinesia, Abnormal shoulder morphology, Weight loss, Ga... |
ORPHA:157941 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98797 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, High palate, Talip... |
OMIM:255200 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Increased susceptibility to fractures, Intrinsic ha... |
OMIM:304700 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Vertebral ... |
OMIM:130720 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Anosmia, Obesity, Increased serum leptin, Hyposmia, Polyphagia |
OMIM:617885 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Dental crowding, Micrognath... |
OMIM:620351 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Abnormal dental ... |
ORPHA:568 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
Tenorio Syndrome |
|
Mandibular prognathia, Osteopenia, Wide nose, Telecanthus, Anteverted nares, Hypoglycemia, Joint ... |
OMIM:616260 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Atelis Syndrome 2 |
|
Epicanthus, Sacral dimple, Single transverse palmar crease, Prominent nose, Micrognathia, Kyphosi... |
OMIM:620185 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Baralle-Macken Syndrome |
|
Tapered finger, Kyphosis, Inability to walk, High, narrow palate, Obesity, Upslanted palpebral fi... |
OMIM:619255 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion... |
OMIM:259050 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Kyphosis, Inability to walk, Blepharospasm, Scoliosis... |
OMIM:128100 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Epicanthus... |
ORPHA:1908 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, Scoliosis |
OMIM:617404 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Short stature, Abnormality of the hand, Underdeveloped nasal alae, Aggressive... |
OMIM:192430 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal intervertebral disk morphology, De... |
ORPHA:2311 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... |
ORPHA:93360 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Small hypot... |
ORPHA:2232 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... |
ORPHA:536471 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Unsteady gait, Small hand, Dysphagia, Short foot, Bradykinesia, Agitation, Scoliosis, B... |
OMIM:617435 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short philtrum, Lethargy, Short tibia, Rhizomelia, Cryptorchidism, Wide nose, Short femur, Hypogl... |
OMIM:607143 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Waddling gait, Short metacarpal, Iliac crest ser... |
OMIM:607326 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea... |
OMIM:607014 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Underdeveloped nasal alae, Micrognathia, Kyphosis, Deep philtrum, Depr... |
ORPHA:77300 |
Coffin-Siris Syndrome 4 |
|
Prominent interphalangeal joints, Short philtrum, Pulmonary artery atresia, Thick nasal alae, Ant... |
OMIM:614609 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... |
ORPHA:261537 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Localized Scleroderma |
|
Abnormality of the nose, Abnormality of the dentition, Flexion contracture, Dental malocclusion, ... |
ORPHA:90289 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Flat glenoid fossa, ... |
OMIM:224690 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Kleefstra Syndrome 2 |
|
Kyphosis, Growth delay, Self-injurious behavior, Everted lower lip vermilion, Scoliosis, Bifid uv... |
OMIM:617768 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo... |
OMIM:268400 |
Hyperlysinemia |
|
Hyperactivity, Short stature, Craniosynostosis, Argininuria, Recurrent pneumonia, Depressed nasal... |
ORPHA:2203 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Chromosome 22Q13 Duplication Syndrome |
|
Anteverted nares, Impulsivity, Narrow nasal ridge, Upslanted palpebral fissure, Attention deficit... |
OMIM:615538 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Thicke... |
ORPHA:261494 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Epicanthus, Micrognathia, Pneumothorax, Patellar hypoplasia, Cl... |
ORPHA:2257 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Sclerotic vertebral body, Ataxia, Tented upper lip vermilion, Kyphosis, Bulbous nose,... |
OMIM:618476 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Osteopenia, Posteriorly rotated ears, Dental crowding, Abnorma... |
ORPHA:79329 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Emphyse... |
ORPHA:2962 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, F... |
OMIM:305600 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Ulnar deviation of the hand, Femur fracture, Abnormal pinna morphology, Multiple j... |
OMIM:618291 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Vici Syndrome |
|
Micrognathia, Abnormal thymus morphology, High palate, Median cleft palate, Depressed nasal bridg... |
OMIM:242840 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Dental crowding, Micrognathia, Cryptorchidism, Sensorineural hearing impairmen... |
OMIM:615381 |
Craniopharyngioma |
|
Enlarged pituitary gland, Abnormal nasal bone morphology, Hypogonadotropic hypogonadism, Neoplasm... |
ORPHA:54595 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hyperhidrosis, In... |
OMIM:300942 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Micrognathia, High palate, Abnormal repetitive mannerisms, Self-mutilation, Depr... |
OMIM:619005 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ... |
ORPHA:828 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Bilater... |
OMIM:618484 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Neonatal death, Intrauterine growth retardation, Failure to thrive... |
OMIM:618237 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Uplift... |
OMIM:616449 |
Stickler Syndrome, Type I |
|
Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodactyly, Antever... |
OMIM:108300 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Holoprosencephaly |
|
Short neck, Synophrys, Deep philtrum, Depressed nasal ridge, Panhypopituitarism, Abnormal form of... |
ORPHA:2162 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Maternal diabetes |
ORPHA:1208 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... |
OMIM:119600 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
Mend Syndrome |
|
Micrognathia, High palate, Microretrognathia, Hyperactivity, Broad hallux, Short stature, Cryptor... |
OMIM:300960 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... |
ORPHA:261552 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Hearing impairment, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Scoliosis, Ptosis |
OMIM:610743 |
Thanatophoric Dysplasia Type 2 |
|
Brachydactyly, Depressed nasal bridge, Short stature, Micromelia, Kyphosis, Limitation of joint m... |
ORPHA:93274 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal lung lobation, Abnormal form of t... |
ORPHA:818 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Non-midline cleft lip, Wide n... |
ORPHA:2075 |
Mend Syndrome |
|
Micrognathia, High palate, Abnormal nasal bridge morphology, Hyperactivity, Broad hallux, Short s... |
ORPHA:401973 |
Atypical Rett Syndrome |
|
Restrictive behavior, Kyphosis, Inability to walk, Tongue thrusting, Small hand, Gait ataxia, Sho... |
ORPHA:3095 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking of... |
OMIM:230650 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short fourth metatarsal, Epicanthus, Overlapping toe, Short stature, Hi... |
OMIM:619557 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Chronic bronchitis, ... |
OMIM:620356 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Kyphosis, Distal upper limb amyotrophy, Gait disturbance, Scoliosis, Hearing impairment |
ORPHA:101075 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Dec... |
OMIM:259440 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Short stature, Absent pubertal growth spurt, Puberty and gonadal disorders... |
ORPHA:464282 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypoglycemia, Dysmenorrhea, Small for gestational age, Micrognathia, Postnatal growth... |
ORPHA:397590 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Hypoplasia of the max... |
OMIM:231070 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent cru... |
OMIM:619194 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... |
ORPHA:1328 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... |
ORPHA:2092 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Crumpled long bones, Short stature, Abnormal... |
ORPHA:2050 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Proximal placement of thumb, Highly arched eyebrow, Micrognathia, Cryptorchidis... |
ORPHA:261250 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hearing impairment, Jo... |
ORPHA:1860 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363958 |
Typical Nemaline Myopathy |
|
Waddling gait, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Genu varum, Fl... |
ORPHA:171436 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Hypoglycemia, Decreased response to growth hormone sti... |
ORPHA:95619 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Contracture of ... |
OMIM:618223 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Pulmonary cyst, Depressed nasal bridge, Anteverted nares, Micrognathia, Large for ... |
OMIM:618272 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Van Esch-O'Driscoll Syndrome |
|
Protruding ear, Downturned corners of mouth, Shallow orbits, Clinodactyly of the 5th finger, Spin... |
OMIM:301030 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Waddl... |
OMIM:183900 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Failure to thrive, Sinusitis, Ovoid vertebral bodies, Short neck, Joint sti... |
ORPHA:583 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diame... |
OMIM:258315 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia, Histidinuria, Sensorineural hearing impairment, Wide nasal bridge, Short middle pha... |
ORPHA:2158 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the pulmonary artery, Upper limb asymmetry, Abnormality of the menstrual cycle |
ORPHA:90308 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99226 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:881 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Hypergonadotropic hypogonadism, Ataxia, Short stature, Coxa valga, Kyphosis, Fl... |
OMIM:248800 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... |
ORPHA:392 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent upper respiratory tract infections, Gait ataxia, Titubation, Bradykinesia, Gait disturb... |
ORPHA:225147 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Hi... |
OMIM:300676 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Abnormal repetitive mannerisms, Broad metacarpals, Depressed nasal bridge, Tapered fin... |
OMIM:301066 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, ... |
OMIM:616294 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Joint laxity, Posteriorly rotated ears, Arachnodactyly, Prominent nasal br... |
OMIM:617011 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Failure to thrive, Hypoglycemia, Short stature, Kyphoscoliosis, Hip dislocation, Wide... |
OMIM:618005 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... |
ORPHA:2062 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Large for gestational age, Gait ataxia, High palate, Shallow orbits, Low-s... |
ORPHA:457359 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Broad uvula, Arachnodactyly, Protrusio acetabuli, High, narrow palate, Pneumothorax... |
OMIM:614816 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Anteverted ears, Protruding ear, Clinodac... |
ORPHA:459070 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Proximal muscle weakness in upper limbs, Hyperlordosi... |
ORPHA:98863 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Gait ataxia, Sh... |
OMIM:135900 |
Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Emphysema... |
ORPHA:558 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Orofacial c... |
OMIM:194190 |
Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular inters... |
ORPHA:244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Prominent nose, Aggr... |
OMIM:619244 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Micrognathia, Cryptorchidism, Agenesis of pulmonary vessels,... |
OMIM:601186 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel... |
ORPHA:268261 |
Somatomammotropinoma |
|
Mandibular prognathia, Dysmenorrhea, Synophrys, Osteoarthritis, Hyperhidrosis, Widely spaced teet... |
ORPHA:314769 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Short stature, Recurrent fractures, Abnormal dental enamel morphology, Craniosynostos... |
ORPHA:251004 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Lower eyelid retract... |
OMIM:118400 |
Pelger-Huet Anomaly |
|
Depressed nasal bridge, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingival ... |
OMIM:169400 |
Sialidosis Type 1 |
|
Ataxia, Short stature, Kyphosis, Sensorineural hearing impairment, Thick lower lip vermilion, Wid... |
ORPHA:812 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Hyperactivity, Odontogenic keratocysts of the jaw, Short n... |
ORPHA:77301 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Nasal congestion, Recurrent s... |
OMIM:300991 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Ataxia, Hearing impairment... |
OMIM:211530 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Scoliosis, Upper limb dysmetria, Limb dysmetria, Spastic gait, Hearing imp... |
OMIM:614409 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Depressed nasal bridge, Short stature, Abnormality of cartilage of external e... |
ORPHA:3426 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility, Upper limb hypertonia, Failure to thrive, Hearing impairment |
ORPHA:319199 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Short phil... |
OMIM:280000 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, ... |
OMIM:617527 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, K... |
ORPHA:500055 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... |
ORPHA:96334 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Prominent nasal bridge, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Sensorineu... |
OMIM:609944 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced ... |
OMIM:300967 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Proximal muscle weakness in upper limbs, Hyperlordosi... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Proximal muscle weakness in upper limbs, Hyperlordosi... |
ORPHA:98853 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Hearing impairment |
ORPHA:101078 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Campomelic Dysplasia |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Hypoplastic inferior ilia, Poorly ossifi... |
ORPHA:140 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98798 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... |
OMIM:216340 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm... |
ORPHA:521426 |
Acromegaly |
|
Mandibular prognathia, Dysmenorrhea, Synophrys, Osteoarthritis, Hyperhidrosis, Widely spaced teet... |
ORPHA:963 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Single transverse palmar crease, High, narrow palate, Synophrys, Protruding ear, Abnor... |
OMIM:619475 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent nasal bridge... |
OMIM:616914 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... |
OMIM:313400 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture... |
OMIM:619040 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Sensorineural he... |
ORPHA:1883 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia |
OMIM:265150 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Anteverted nares, Short stature, Anorexia, Cachexia, Abnormality of the thyroi... |
ORPHA:1969 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Gait... |
ORPHA:2181 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Wide mouth, Low-set ears, Long phi... |
OMIM:608776 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Severe short stature, Short stature, Hearing impairment, Short neck, K... |
OMIM:309900 |
Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi... |
OMIM:617140 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Depressed nasal bridge, Short stature, Kyphosis, Inabilit... |
OMIM:618493 |
Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:816 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Emphyse... |
ORPHA:2834 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:2786 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Decreased serum leptin, D... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Diabetes mellitus, Decrea... |
OMIM:608594 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Abdominal aortic aneurysm, Joint l... |
ORPHA:284984 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Growth delay, Weight loss, Primary hypothyroidism, Failure to thrive, Pol... |
ORPHA:95427 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery, Ataxia |
ORPHA:1065 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... |
OMIM:239000 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Aortopulmonary collateral arteries, Micrognathia, Cryptorchidism, Bulbous nose... |
OMIM:620025 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
15Q14 Microdeletion Syndrome |
|
Short stature, Prominent nasal bridge, Abnormality of the dentition, Kyphosis, Cleft palate, Shor... |
ORPHA:261190 |
Mucolipidosis Iii Gamma |
|
Short stature, Abnormality of the hand, Hyperlordosis, Flat capital femoral epiphysis, Short neck... |
OMIM:252605 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Depressed nasal bridge, Camptodactyly of finger, Short stature,... |
OMIM:607015 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Ataxia, Short stature, Cachexia, Joint stiffness, Failure to th... |
ORPHA:702 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Joint stiffness... |
ORPHA:2510 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia |
OMIM:178370 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, High palate, Spondylolisthesis, Bifid uvula, Abdominal aorti... |
OMIM:613795 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Sialidosis Type 2 |
|
Ataxia, Short stature, Kyphosis, Flexion contracture, Osteoporosis, Hearing impairment |
ORPHA:87876 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Short lingual frenulum, Partial anosmia, Total anosmia... |
ORPHA:2326 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dyspha... |
ORPHA:352447 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, ... |
OMIM:275210 |
Marden-Walker Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Bifid uvula, Arachnodactyly, Low-set ears, N... |
ORPHA:2461 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Diabetes mellitus, Cleft upper lip, Cleft palate, Conjunctivitis, Abnormality of the pulm... |
ORPHA:33001 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Shallow orbits, Conductive hearing impai... |
ORPHA:576 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis |
OMIM:618234 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis... |
ORPHA:3042 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Entropion, Kyphoscoliosis, Bilateral cryptorchidism, Bulbous nose, Pneumothora... |
OMIM:617403 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... |
OMIM:617402 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Ptosis |
OMIM:615084 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the ... |
ORPHA:744 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia |
OMIM:613759 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... |
ORPHA:198 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetri... |
OMIM:619708 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Thick l... |
OMIM:613804 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Bulbous nose, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxia... |
OMIM:258850 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... |
OMIM:309580 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Low-set... |
OMIM:200980 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Downturned corners of mouth, ... |
OMIM:136140 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, H... |
ORPHA:58 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cryptorchidism, Kyphosis, Cleft lip, Cleft palate, Protruding ear, Upslanted palpeb... |
OMIM:619123 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis, Chronic sinus... |
OMIM:612444 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Aortic root aneurysm, Aortic atheros... |
ORPHA:363618 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Supern... |
OMIM:619718 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys... |
OMIM:245150 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:8 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Prominence of the premaxilla, Abnormal pinna morphology, Depressed n... |
OMIM:614437 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Sensorineural he... |
ORPHA:79107 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Scapular winging, Proximal muscle weakness in upper limbs, Spinal rigid... |
ORPHA:98855 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Cono-Spondylar Dysplasia |
|
Short humerus, Epiphyseal dysplasia, Anteverted nares, Short neck, Kyphosis, Cone-shaped epiphyse... |
ORPHA:420794 |
Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cryptorchidism, Kyphosis, Cleft lip, Limi... |
ORPHA:1724 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Epicanthus, Kyphosis, Upslanted palpebral fissure, Dysphagia, Intrauterine gro... |
OMIM:619909 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Thin upper lip vermilion, Failure to thrive, Premature ovarian insufficiency, Depress... |
OMIM:212065 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Short stature, Small for gestational age, Micrognathia, Protrud... |
OMIM:616777 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Bronchiectasis, Immotile sperm, Recurrent sinusitis, Chronic rhinitis, Recurren... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Small for gestational age, Micrognathia, Long fingers, High, narrow pal... |
ORPHA:284979 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Vascular ring, Knee flexion contracture, Lon... |
OMIM:603387 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Coiled sperm... |
OMIM:620197 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Protruding ear, Clinodactyly of the 5... |
ORPHA:464306 |
Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Prominent nasal bridge, Kyphosis, Obesity, Attention deficit hyperactivity disord... |
ORPHA:261222 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Diabetes mellitus, Bronchiti... |
ORPHA:125 |
Rett Syndrome |
|
Short stature, Cachexia, Abnormality of the dentition, Kyphosis, Gait apraxia, Truncal ataxia, Ga... |
OMIM:312750 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Rhinitis, Re... |
OMIM:614935 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Sca... |
OMIM:181405 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat... |
OMIM:214800 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Hearing impairment |
ORPHA:99014 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Hypoglycemia, Anterior pituitary hypoplasia, Short stature... |
OMIM:616113 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Severe short stature, Kyphosis, Palmopl... |
OMIM:616482 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... |
ORPHA:373 |
Srd5A3-Cdg |
|
Ataxia, Decreased response to growth hormone stimulation test, Kyphosis, Abnormal sacrum morpholo... |
ORPHA:324737 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Conductiv... |
OMIM:113620 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Multiple pulmonary cysts, Epicanthus, Depressed nasal bridge, Hypoglycemia, Jo... |
OMIM:619418 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Palmopla... |
OMIM:615108 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Anorexia, Kyphosis, Osteoarthritis, Abnormal pulmonar... |
ORPHA:77259 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm... |
ORPHA:2273 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Gait disturbance, Upper limb hypertonia, Joint hyperflexibility |
OMIM:614898 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increa... |
OMIM:166220 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Rhinitis, Immotile sperm, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Chronic bronchitis, Recurrent pneumonia, Bron... |
OMIM:613807 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Dextrocardia |
|
Congenital hip dislocation, Abnormality of the pulmonary artery, Abnormal lung lobation, Abnormal... |
ORPHA:1666 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Micrognathia, Bilateral cryptorchidism, Short metatarsal, High palate, Hypothyroidism, Low-set, p... |
ORPHA:1772 |
Scleromyxedema |
|
Abnormality of thyroid physiology, Abnormality of the hand, Abnormal lung morphology, Dysphagia, ... |
ORPHA:167635 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Femoral retroversion, Micromeli... |
OMIM:610682 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Bilateral ptosis, Kyphosis, Bradykinesia, Dysphagia, Open mouth |
ORPHA:97349 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss... |
OMIM:607155 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Palmopla... |
OMIM:615109 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia |
ORPHA:306550 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose, Tongue thrusting, Protr... |
OMIM:613454 |
Viss Syndrome |
|
Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Emphysema, Broad uvula,... |
OMIM:619472 |
Marfan Syndrome |
|
Dental crowding, Equinus calcaneus, Micrognathia, Flexion contracture, High palate, Emphysema, Ar... |
OMIM:154700 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Failure to thrive, Small for gestational age, Prominent nasal ... |
ORPHA:464311 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH... |
OMIM:219090 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronc... |
OMIM:244400 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, High, narrow palate, Thick l... |
OMIM:162300 |
Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation... |
ORPHA:64 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... |
OMIM:113500 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Ca... |
ORPHA:88628 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Aortic ... |
OMIM:609008 |
Cdags Syndrome |
|
Ptosis, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Sensorineural hear... |
OMIM:603116 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Abnormal dental morphology, Tarsal synostosis, Abnormal dental enamel morphology,... |
ORPHA:85199 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Oligozoospermia, Attention deficit hyperactivity disorder, ... |
ORPHA:3000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Elbow flexion contracture, Proximal muscle weakness in upper limbs |
OMIM:618138 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Aminoaciduria, Abnormal repetitive mannerisms, Short stature, Osteomalacia, Crypt... |
OMIM:309000 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex congenita, Ptosis |
OMIM:617143 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Choanal stenosis, Conductive... |
OMIM:201750 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l... |
ORPHA:974 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:95494 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Palmopla... |
OMIM:158350 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Abnormal lung morphology, Elevated circulating parathyroid hormon... |
ORPHA:97685 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Short neck, Joint stiffness, Kyphosis, Depressed nasal ridge, Gingival over... |
OMIM:230500 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Hearing impairment, Coarctation of aorta, Low-set ears, Pulmonary artery atresia, Int... |
OMIM:618164 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:90695 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Spontaneous pneumothorax, Narrow nasal ridge, Pulmonary arteriovenous... |
OMIM:606721 |
Pagod Syndrome |
|
Short stature, Pulmonary artery hypoplasia, Abnormal aortic morphology, Pulmonary hypoplasia, Abn... |
ORPHA:991 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... |
ORPHA:261529 |
Aspartylglucosaminuria |
|
Joint laxity, Recurrent respiratory infections, Aspartylglucosaminuria, Depressed nasal bridge, A... |
OMIM:208400 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis, Ptosis |
ORPHA:88644 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Hypophosphatemic rickets, Male hy... |
OMIM:219800 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Coarctation of aorta |
ORPHA:1209 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Split hand, Clubbing, Cleft palate, Coa... |
OMIM:600460 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Conductive hearing impairment, Abnormal vertebral mo... |
ORPHA:821 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Neurofibromatosis Type 1 |
|
Ataxia, Recurrent fractures, Short stature, Abnormal eyelid morphology, Abnormality of the endocr... |
ORPHA:636 |
Shprintzen Omphalocele Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Short stature, Kyphosis, Flared nostrils, Wide nasal bridge, Sh... |
OMIM:182210 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Micrognathia, Cleft upper lip, Kyphosis, Cleft palate, Conjunctivitis, Chylothorax, Disti... |
OMIM:153400 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture |
ORPHA:85193 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc... |
ORPHA:64755 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Carious teeth, Kyphosis, Unsteady gait, Flexion contracture, K... |
ORPHA:90324 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Kyphosis, Flexion contracture, Hyperhidrosis, Scoliosis |
OMIM:609541 |
Cowden Syndrome |
|
Brachydactyly, Ataxia, Follicular thyroid carcinoma, Short stature, Abnormality of the thyroid gl... |
ORPHA:201 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Usher Syndrome, Type Ig |
|
Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
Fucosidosis |
|
Abnormality of the dentition, Kyphosis, Hyperhidrosis, Anterior beaking of lumbar vertebrae, Fail... |
ORPHA:349 |
Unilateral Polymicrogyria |
|
Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Infantile sensorineural ... |
ORPHA:268943 |
Congenital Tracheomalacia |
|
Pneumonia, Tracheobronchomalacia, Partial anomalous pulmonary venous return, Recurrent upper resp... |
ORPHA:95430 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,... |
OMIM:304150 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the pulmonary vasculature |
ORPHA:284227 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... |
ORPHA:185 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Classic Homocystinuria |
|
Arachnodactyly, Dental crowding, Anorexia, Recurrent fractures, Joint stiffness, Kyphosis, Osteop... |
ORPHA:394 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Pulmonary artery vasoc... |
OMIM:178600 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Peripheral pulmonary vessel aplasia... |
OMIM:273395 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Elevated circulating creatinine concentration, Olig... |
ORPHA:85450 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Absen... |
OMIM:227650 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Protruding ear, Neonatal death, Syndactyly, Anteverted... |
OMIM:619534 |
Cerebrocostomandibular Syndrome |
|
Short stature, Tracheomalacia, Micrognathia, Conductive hearing impairment, Kyphosis, Cleft palat... |
ORPHA:1393 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Kyphosis, High, na... |
OMIM:177850 |
Cystic Fibrosis |
|
Male infertility, Nasal polyposis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Br... |
OMIM:219700 |
Sandifer Syndrome |
|
Abnormal posturing, Decreased cervical spine mobility |
ORPHA:71272 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Cleft lip, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Ab... |
OMIM:265380 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Oral ulcer, Abnormality of the pulmonary vasculatu... |
ORPHA:93126 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... |
ORPHA:251510 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Failure to thrive, Abnormal aortic arch morphology, Aortopulmon... |
ORPHA:99050 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Coronary artery calcification, Kyphosis, Limited shoulder moveme... |
OMIM:203500 |
Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Double aortic arch, Aortopulmonary collateral arteries, Pulmonary artery atresia |
OMIM:618780 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... |
ORPHA:3384 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios... |
OMIM:266270 |
Congenital Heart Defects, Multiple Types, 9 |
|
Pulmonary artery atresia, Intrauterine growth retardation, Aortopulmonary collateral arteries, Lo... |
OMIM:620294 |
Right Atrial Isomerism |
|
Pulmonary artery atresia, Abnormal lung lobation, Total anomalous pulmonary venous return, Aortop... |
OMIM:208530 |
Heterotaxy, Visceral, 4, Autosomal |
|
Right aortic arch, Total anomalous pulmonary venous return, Pulmonary artery atresia |
OMIM:613751 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Pulmonary artery atresia |
OMIM:108900 |
Juvenile Polyposis Syndrome |
|
Spontaneous, recurrent epistaxis, Depressed nasal bridge, Epistaxis, Pulmonary arteriovenous malf... |
ORPHA:2929 |
Heterotaxy, Visceral, 7, Autosomal |
|
Right aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Interrup... |
OMIM:616749 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Clubbing of toes, Clubbing of fingers, Pulmonary artery dilatat... |
ORPHA:99106 |
Congenital Tracheal Stenosis |
|
Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobation, Abnormal earlobe mo... |
ORPHA:141127 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Dysphagia, Difficulty walking, Aspiration pneumonia, Scoliosis |
OMIM:619482 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis, Failure to thrive, Unsteady gait |
OMIM:615512 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Cryptorchidism, Pulmonary artery dilatation, Thoracic aortic aneurysm |
OMIM:613834 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Bilateral trilobed lung, Partial anomalous pulmonary venous return, Coarct... |
OMIM:270100 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Dysdiadochokinesis, Difficulty walking, Dysmetria |
ORPHA:171629 |
Cardiac Valvular Dysplasia 2 |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation |
OMIM:620067 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Clubbing, Aortic dissection, Aortic aneurysm |
OMIM:175050 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Coarctation of aorta |
OMIM:613426 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... |
OMIM:600376 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... |
OMIM:610655 |
Cardiac Diverticulum |
|
Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Coarctation of aorta, Pulmo... |
ORPHA:1686 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... |
OMIM:187300 |
Heterotaxy, Visceral, 8, Autosomal |
|
Right aortic arch, Aortopulmonary collateral arteries, Pulmonary artery atresia |
OMIM:617205 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta |
OMIM:610338 |
Heterotaxy, Visceral, 12, Autosomal |
|
Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Coarctation of aorta, Right a... |
OMIM:619702 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Failure to thrive, Double aortic arch |
ORPHA:216694 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Left aortic arch with cervical origin of the right subclavian artery |
OMIM:212093 |