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Gene: Ryk MGI:101766

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Gene Summary

Name:
receptor-like tyrosine kinase
Synonyms:
ERK-3,  Vik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged kidney Rykem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Rykem1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Rykem1(IMPC)Mbp HET Early adult 0.00
eye hemorrhage Rykem1(IMPC)Mbp HET Early adult 3.27×10-07
abnormal spleen morphology Rykem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Rykem1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Rykem1(IMPC)Mbp HOM E15.5 0.00
enlarged heart Rykem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Rykem1(IMPC)Mbp HOM E15.5 0.00
increased leukocyte cell number Rykem1(IMPC)Mbp HET Early adult 1.81×10-05
increased monocyte cell number Rykem1(IMPC)Mbp HET Early adult 6.36×10-05
preweaning lethality, complete penetrance Rykem1(IMPC)Mbp HOM   Early adult 0.00
enlarged spleen Rykem1(IMPC)Mbp HET Early adult 0.00
increased lymphocyte cell number Rykem1(IMPC)Mbp HET Early adult 5.68×10-07
abnormal skin morphology Rykem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Rykem1(IMPC)Mbp HET Early adult 1.16×10-05
abnormal placenta morphology Rykem1(IMPC)Mbp HET E15.5 0.00
cleft palate Rykem1(IMPC)Mbp HOM E15.5 0.00
edema Rykem1(IMPC)Mbp HOM E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Human diseases caused by Ryk mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ... OMIM:227270
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Broad nasal tip, Cl... ORPHA:166016
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Bilateral single transverse palmar creases... ORPHA:1972
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Microcephaly, Abnormality of the dent... ORPHA:217340
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Absent forearm, Overlapping toe, Short stature, Single transverse palmar crease... OMIM:201170
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Selective tooth ag... OMIM:210600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Death in infancy, Cerebellar vermis hypoplasia, An... OMIM:619135
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... OMIM:619902
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Microcephaly, Cleft palate, Arthrogryposis multiplex congenita,... OMIM:616570
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... OMIM:249600
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... ORPHA:950
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Fibular hypoplasi... OMIM:612447
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Distal lower li... OMIM:300354
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Decreased body weight, Micrognathia,... OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Decreased body weight, Micrognathia,... ORPHA:357175
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat... OMIM:164745
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Bowen-Conradi Syndrome
Death in infancy, Short stature, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Promi... ORPHA:1270
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... OMIM:268305
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... OMIM:228520
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands, Swollen lip OMIM:619363
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Overtubulated long bones, Short metacarpal, P... OMIM:618150
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... OMIM:164900
Coffin-Siris Syndrome 3
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Microcephaly, Central diaphra... OMIM:614608
Coffin-Siris Syndrome 2
High palate, Short philtrum, Dandy-Walker malformation, Depressed nasal bridge, Anteverted nares,... OMIM:614607
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp... OMIM:277150
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Obesity, Short foot, Short 5th finger, High palate, Cubitus valgus, Clin... OMIM:300577
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Relative macrocephaly, Anteverted nares, Dental crowding, Ataxia, Inab... OMIM:616354
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Tapered finger, Microcephaly, Short finger, Death in childhood, Acrocyanosis OMIM:302000
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... ORPHA:93323
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnor... ORPHA:79106
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ... OMIM:171480
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... OMIM:616300
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o... OMIM:600002
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Long philtrum, Short nose... ORPHA:1389
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Talipes, Coxa valga, Metatarsus adductus... ORPHA:2557
Cofs Syndrome
Death in infancy, Cerebral calcification, Short stature, Camptodactyly of finger, Talipes, Microg... ORPHA:1466
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... ORPHA:52056
Mcdonough Syndrome
Mandibular prognathia, Short stature, Cachexia, Underdeveloped nasal alae, Micrognathia, Prominen... ORPHA:2471
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Cleft palate, Short nose ORPHA:2015
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Inability to walk, Flexion contracture,... OMIM:613155
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Disproportionate short stature, Short metatarsal, ... ORPHA:1856
Brachydactyly Type A1
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... ORPHA:93388
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... ORPHA:1788
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... OMIM:271700
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Severe short stature, Macrodontia, Cachexia, Prom... ORPHA:3242
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... OMIM:602471
Syngnathia
Cleft palate OMIM:119550
Gombo Syndrome
Microcephaly, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachyda... OMIM:233270
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Smooth philtrum, Hip contracture, Thin upper lip vermilion, Anteverted nares, Prominent nasal bri... OMIM:616801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Relative macrocephaly, Increased body mass index, Congenital hip dislo... OMIM:614450
Christianson Syndrome
Mandibular prognathia, Death in early adulthood, Decreased muscle mass, Cachexia, Abnormality of ... ORPHA:85278
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... ORPHA:61
Pierpont Syndrome
Widely spaced teeth, Short palm, Prominent fingertip pads, Prominent subcalcaneal fat pad, Short ... OMIM:602342
Fryns-Smeets-Thiry Syndrome
Narrow nasal bridge, Arachnodactyly, Prominent nasal bridge, Short stature, Micrognathia, Microce... ORPHA:2058
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Cerebral calcification, Short stature, Abnormal de... ORPHA:1798
Shox-Related Short Stature
Short stature, Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing,... ORPHA:314795
Anauxetic Dysplasia 2
Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Coxa... OMIM:617396
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:619644
Craniosynostosis-Mental Retardation-Clefting Syndrome
Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge OMIM:218650
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Micrognathia, Microcephaly, High palate, Everted lower lip... ORPHA:1695
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Kinsship Syndrome
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth... OMIM:619297
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... ORPHA:1352
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Tented upper lip vermilion, Micrognathia, Knee flexion contracture, Short philtrum, Anteverted na... ORPHA:371364
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Depressed nasal bridge, Broad uvula, Broad nas... ORPHA:2804
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei... ORPHA:141152
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Micrognathia, Microcephaly, Abnormal foot morphology, Flexion c... OMIM:618186
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm... ORPHA:1277
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Microcephaly, Orofacial cleft, Split foot, Triphalangeal... ORPHA:3434
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Gingival fibromatosis, Gingi... ORPHA:1832
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Short s... OMIM:614078
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Metatars... ORPHA:2249
Ring Chromosome 10 Syndrome
Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Micrognathia, Wide nasal bridge, Thi... ORPHA:1438
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... OMIM:108720
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Epiphysea... ORPHA:1914
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short stature, Abnormality of the hand... ORPHA:369891
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Hypoplasia of the maxilla, Short middle phalanx of the 2nd ... OMIM:156510
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys... ORPHA:464329
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Mulibrey Nanism
Short stature, Cachexia, Wide nasal bridge, Macrocephaly, Intrauterine growth retardation ORPHA:2576
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Short stature, Camptodactyly of finger, Talipes, Micrognathia, Microcephaly, Gr... ORPHA:1495
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of corpus callosum, Hypoplas... OMIM:613091
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... OMIM:268310
Liang-Wang Syndrome
Thin upper lip vermilion, Ataxia, Diastema, Wide nasal bridge, Cerebral atrophy, Gingival overgro... OMIM:618729
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Wide nasal bridge, Downturned co... ORPHA:2774
Autosomal Spastic Paraplegia Type 18
Hip contracture, Ankle flexion contracture, Neck joint contracture, Inability to walk, Flexion co... ORPHA:209951
Megaepiphyseal Dwarfism
Severe short stature, Short stature, Cleft palate OMIM:249230
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel... ORPHA:166002
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synos... OMIM:251230
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Broad toe, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Tented upper l... OMIM:616900
Ethanolaminosis
Cardiomegaly OMIM:227150
Pierpont Syndrome
Widely spaced teeth, Prominent fingertip pads, Short toe, Abnormality of the plantar skin of foot... ORPHA:487825
Seckel Syndrome 2
Short stature, Small for gestational age, Micrognathia, Prominent nose, Microcephaly, Microdontia... OMIM:606744
Perching Syndrome
Cyanosis, Depressed nasal bridge, High palate, Camptodactyly, Joint contracture OMIM:617055
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Depressed nasal bridge, Short stature, Micromelia, Micrognathia... OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Depressed nasa... OMIM:156200
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalange... ORPHA:3201
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal ch... ORPHA:163966
Trisomy 17P
Skeletal muscle atrophy, Micrognathia, Prominent nose, Flexion contracture, Orofacial cleft, High... ORPHA:261290
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... ORPHA:2878
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Broad nasal ... OMIM:615524
Intellectual Developmental Disorder, Autosomal Recessive 30
Growth delay, Macroglossia, Microcephaly OMIM:614342
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Micrognathia, Carious teeth, Absen... ORPHA:96097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Microcephaly, Achilles tendon contractu... OMIM:606612
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu... ORPHA:140
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Facial palsy, Achilles tendon contracture, Elbow flexion contracture, EMG: myopath... OMIM:608840
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wi... OMIM:617925
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... OMIM:165590
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre... OMIM:114290
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po... OMIM:263750
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... OMIM:277170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Inability to walk, Flexion contracture,... OMIM:613156
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... ORPHA:363417
Keipert Syndrome
Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,... ORPHA:2662
X-Linked Intellectual Disability, Cabezas Type
Prominent nose, High palate, Biparietal narrowing, Short philtrum, Short palm, Clinodactyly of th... ORPHA:85293
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Elbow... ORPHA:85170
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Boomerang Dysplasia
Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... OMIM:112310
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... ORPHA:2616
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Microcephaly, Growth delay, High palate, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Prominent fingertip pads, Anteverted nares, Broad hallux, Short stature, Cleft soft... OMIM:618529
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower... ORPHA:969
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent n... OMIM:610756
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Telangiectasia of the skin, A... ORPHA:75508
Fatty Acyl-Coa Reductase 1 Deficiency
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Inability to wa... ORPHA:438178
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Cachexia, A... ORPHA:884
Frontonasal Dysplasia 1
Pericallosal lipoma, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxill... OMIM:136760
Microphthalmia, Syndromic 8
Mandibular prognathia, Microcephaly, Cleft upper lip, Orofacial cleft, Cleft palate, Widely-space... OMIM:601349
Zimmermann-Laband Syndrome
Hallux valgus, Pes planus, Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival f... ORPHA:3473
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno... ORPHA:2639
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Postaxial Acrofacial Dysostosis
Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Overlapping toe, Anteverted nares, Short stature, Micrognathia, Mic... OMIM:600118
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... OMIM:300373
Chromosome 5Q12 Deletion Syndrome
Long toe, Micrognathia, Prominent nose, Long fingers, Postnatal growth retardation, Wide mouth, M... OMIM:615668
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Sh... ORPHA:166272
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Tapered finger, Prominent nose, Long fingers, Microcephaly, Thick lower lip ve... OMIM:614407
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Short tibia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd ... OMIM:118651
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Deep... ORPHA:261120
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Micrognathia, Prominent nose, Hypoplasia of the pons, Partial agenesis of the corp... OMIM:616171
Arthrogryposis, Distal, Type 1C
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... OMIM:619110
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Severe postnatal growth retardation, Wide anterior fontanel, Depressed nasal bridge OMIM:275100
Phocomelia, Schinzel Type
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyly, Radi... ORPHA:2879
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Micrognathia, Generalized limb muscle atrophy, Myopathy, High palate, Delayed puber... ORPHA:2598
Alg6-Cdg
Ataxia, Jaundice, Shortening of all distal phalanges of the fingers, Macroglossia, Protein-losing... ORPHA:79320
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Protruding tong... OMIM:242860
Temtamy Syndrome
Pes planus, Brachydactyly, Micrognathia, Short toe, Thick lower lip vermilion, Aplasia/Hypoplasia... ORPHA:1777
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Alg3-Cdg
Cerebral white matter atrophy, Abnormality of the nose, Hypoplasia of the pons, Metaphyseal chond... ORPHA:79321
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance ORPHA:2349
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... ORPHA:1133
Anauxetic Dysplasia 1
Mandibular prognathia, Hip contracture, Severe short stature, Rhizomelia, Hypoplastic ilia, Short... OMIM:607095
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the... ORPHA:85279
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Muscular dys... OMIM:616827
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
2Q24 Microdeletion Syndrome
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, Bullet-shaped d... ORPHA:1617
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Peho-Like Syndrome
Tapered finger, Open mouth, Retrognathia, Lissencephaly, Hypoplasia of the corpus callosum, Short... OMIM:617507
Omodysplasia 1
Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Limi... OMIM:258315
Atelosteogenesis, Type Ii
Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Cl... OMIM:256050
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Relative macrocephaly, Broad-based gait, Depressed nasal bridge, Dental crowding, Ataxia, Hypopla... ORPHA:397709
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal... OMIM:274000
Moebius Syndrome
Abnormal nasopharynx morphology, Micrognathia, Congenital fibrosis of extraocular muscles, Hypopl... OMIM:157900
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Pes planus, Short stature, Prominent nasal bridge, Single transverse pa... OMIM:613544
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Ataxia, Abnormality of the dent... OMIM:615398
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Failure to thrive, Toe syndactyly, Congenital hip dislocation, Cachexia, Under... ORPHA:217346
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip v... ORPHA:2429
Tetrasomy 5P
Pericallosal lipoma, Cyanosis, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Pos... ORPHA:3309
Braddock-Carey Syndrome 2
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clin... OMIM:619981
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Short philtrum, Death in childh... OMIM:610758
Clark-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... OMIM:617752
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Downturned corners of mouth, Hypoplasia of the brainstem, Oligodontia, Short philtr... ORPHA:391408
Pseudoachondroplasia
Metaphyseal widening, Delayed epiphyseal ossification, Increased laxity of ankles, Abnormal femor... ORPHA:750
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Achilles tendon... ORPHA:353
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Long philtrum, Depressed na... OMIM:616331
Zimmermann-Laband Syndrome 2
Short stature, Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival overgrowth, Ma... OMIM:616455
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Bulbous ... ORPHA:261144
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Narrow mouth, Abnormal pelvic girdle bone morphology, Thin vermilion border, Hip d... ORPHA:2370
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Down Syndrome
Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, Microdontia, ... ORPHA:870
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... ORPHA:2141
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Thin vermilio... ORPHA:2631
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Prominent nasal bridge, Abnorm... ORPHA:1307
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Encephalomalacia, Depressed nasal bridge, Short sta... ORPHA:354
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Malar flattening, Short nos... OMIM:613670
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Microcephaly, Growth delay, Microphthalmia, Cutaneous photosen... OMIM:278780
Atelosteogenesis, Type Iii
Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the ma... OMIM:108721
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
2q33.1 deletion syndrome
Short stature, High palate, Cleft palate DECIPHER:51
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou... OMIM:312700
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Short stature, Jaundice, Severe postnatal growth retard... OMIM:613038
Seckel Syndrome
Prematurely aged appearance, Abnormal dental enamel morphology, Sandal gap, Micrognathia, Short s... ORPHA:808
Congenital Disorder Of Deglycosylation 2
Ulnar deviation of the hand, Sandal gap, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micro... OMIM:619775
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Verheij Syndrome
Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Short stature, Broad nasal ti... OMIM:615583
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Coxa valga, Wide anterior fontanel, Abnor... ORPHA:163649
Ruvalcaba Syndrome
Short metacarpal, Short stature, Dental crowding, Micromelia, Underdeveloped nasal alae, Microcep... OMIM:180870
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Death in childho... OMIM:214100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Depressed nasal bridge, Limb joint contracture, Ankle flexion contr... ORPHA:284417
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... OMIM:252100
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna... ORPHA:93329
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Absent thumb, Unilateral radial ap... OMIM:614900
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Skeletal muscle atrophy, Talipes, Cachexia, Flexion contracture, Myopathy, Gait... ORPHA:157973
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... ORPHA:439822
Chromosome 14Q11-Q22 Deletion Syndrome
Failure to thrive, Depressed nasal bridge, Proportionate short stature, Micrognathia, Microcephal... OMIM:613457
Chromosome 22Q11.2 Duplication Syndrome
Microcephaly, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, Growth delay, Hi... OMIM:608363
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Microcephaly, Wide mouth, Delayed ... OMIM:618506
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Inability to... OMIM:615716
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Hypoplastic iliac wing, Depress... OMIM:300863
Triploidy
Finger syndactyly, Intestinal malrotation, Micrognathia, Narrow mouth, Non-midline cleft lip, Cle... ORPHA:3376
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Short... OMIM:617102
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Anteverted nares, Optic nerve hypop... ORPHA:357001
Miller-Dieker Syndrome
Anteverted nares, Ataxia, Growth delay, Abnormal upper lip morphology, Lissencephaly, Hypoplasia ... ORPHA:531
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Pr... ORPHA:2107
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Short di... ORPHA:2776
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridge, Short stature, Microg... ORPHA:3098
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Micrognathia, Prominent nose, Basal ganglia calcification, Flexion cont... OMIM:214150
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... OMIM:617883
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Narrow mo... ORPHA:261295
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... ORPHA:90652
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... OMIM:620107
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... OMIM:300590
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Metaphyseal widening,... ORPHA:93357
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the rad... ORPHA:2319
Cohen Syndrome
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Sh... OMIM:216550
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Depressed nasal bridge, Small for gestational age, Microcephaly, Postnatal growth retardation, In... ORPHA:319332
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... OMIM:617201
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microc... ORPHA:46
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Pes planus, Cachexia, Micrognathia, Abnormality of the lower... ORPHA:1979
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Widely space... OMIM:300882
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Anteverted nares, Arachnodactyly, Reduced cerebral white matter volume, ... OMIM:616420
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Limb joint contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contra... ORPHA:280384
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Arachnodactyly, Short stature ORPHA:1144
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Short stature, Single transverse palmar crease, Micro... OMIM:613604
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Failure to thrive, Short stature, Small for gestational age, Progeroid facial appearance, Hypopla... OMIM:608154
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Exaggerated cupid's bow, Small for gestational age, Tapered finger, Micrognathia, Bulb... OMIM:614501
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation, Obesity, Knee... OMIM:618395
Silver-Russell Syndrome
Relative macrocephaly, Decreased muscle mass, Sandal gap, Short stature, Dental crowding, Microgn... ORPHA:813
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, ... ORPHA:79107
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Death in infancy, Hip contracture, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Necr... OMIM:616809
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Cachexia, Malabsorption, Ragged-red muscle fibers, Weight ... OMIM:613662
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... OMIM:617604
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Persistenc... OMIM:610253
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a... OMIM:619941
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Congestive heart failure, Thrombocytopenia, Splenomegaly, Optic atroph... OMIM:617303
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:231393
Diencephalic Syndrome
Large hands, Everted lower lip vermilion, Cachexia, Decreased body weight ORPHA:1672
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Failure to thrive, Sinusitis, Recurrent upper respiratory tract infections,... ORPHA:583
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Wide nasal bridge, H... OMIM:618393
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... ORPHA:1529
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Ataxia, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip vermili... OMIM:616789
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Downturned corners of mouth, High palate, Scapular winging, Depressed nasa... ORPHA:1327
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Micrognathia, Micro... OMIM:611890
Angelman Syndrome
Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of the maxilla, Ob... OMIM:105830
Autosomal Dominant Omodysplasia
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocation, Patellar disl... ORPHA:93328
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Depressed nasal bridge, Optic nerve hypoplasia, Anteverted nares, Micrognathia, Rh... OMIM:222765
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Short stature, Micrognathia, Coxa vara, Abnormal fibula mo... ORPHA:1988
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Wide nasal bridg... ORPHA:93267
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... OMIM:607323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... ORPHA:364577
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short stature, Depressed nasal ridge, Narrow mouth, Short nose, Abnormal oral c... ORPHA:1355
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Talipes calc... OMIM:300534
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Disproportionate short stature,... ORPHA:93298
Cog7-Cdg
Failure to thrive, Small for gestational age, Micrognathia, Postnatal growth retardation, Long fi... ORPHA:79333
Idiopathic Congenital Hypothyroidism
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal ... ORPHA:95717
Marden-Walker Syndrome
Decreased muscle mass, Micrognathia, High, narrow palate, Hypoplasia of the brainstem, Congenital... OMIM:248700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Depresse... OMIM:301040
Mesomelic Dysplasia, Savarirayan Type
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... OMIM:605274
Congenital Varicella Syndrome
Micromelia, Microcephaly, Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:291
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Failure to thrive, Anteverted nares, Short stature, Microcephaly, Postn... OMIM:243310
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Abnormality of the dentition, Gait apraxia, Gai... OMIM:312750
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Widely s... OMIM:218330
Achondroplasia
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Microcephaly, Cubitus valgus, ... OMIM:619694
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Ulna Metaphyseal Dysplasia Syndrome
Short stature, Abnormal morphology of ulna, Abnormal dental morphology, Abnormality of the dentit... ORPHA:1837
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Skeletal muscle atrophy, Thin upper lip vermilion, Micrognathia, Postnatal growth r... OMIM:615419
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... ORPHA:915
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... ORPHA:99827
Smith-Kingsmore Syndrome
Reduced cerebral white matter volume, Large for gestational age, Rhizomelia, Depressed nasal brid... OMIM:616638
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos... OMIM:218600
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Sandestig-Stefanova Syndrome
Small for gestational age, Rocker bottom foot, Bilateral single transverse palmar creases, Primar... OMIM:618804
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... ORPHA:2491
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Long nose,... OMIM:618143
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares,... OMIM:613320
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Neuralgic Amyotrophy
Scapular winging, Short stature, Cleft palate, Narrow mouth, Acrocyanosis ORPHA:2901
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Lethal Congenital Contracture Syndrome 10
Torticollis, Micrognathia, Increased variability in muscle fiber diameter, Narrow palate, Femoral... OMIM:617022
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Feingold Syndrome 2
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... OMIM:614326
Alg8-Cdg
Abnormality of subcutaneous fat tissue, Small for gestational age, Ataxia, Leukoencephalopathy, M... ORPHA:79325
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Corpus callosum atrophy, Cerebral a... OMIM:619876
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia ORPHA:721
Tarp Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... OMIM:311900
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Micromelia, Micrognathia, Split hand, Cleft palate, Intrauterin... ORPHA:2145
Edinburgh Malformation Syndrome
Failure to thrive, Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation... ORPHA:1895
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Long philtrum, Genu v... OMIM:184260
Pontocerebellar Hypoplasia, Type 9
Facial hypotonia, Hypoplasia of the pons, Short upper lip, Macroglossia, Secondary microcephaly, ... OMIM:615809
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Cerebral white matter atrophy, Proximal placement... ORPHA:435638
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Microcephaly, Narrow mouth, Open mouth, Delayed eruption of perma... OMIM:619356
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... OMIM:200980
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Flexion contracture, Hip dysplasia, Hypoplasia of the corpus c... OMIM:618379
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the 5th finger,... OMIM:266920
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... OMIM:613443
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, High palate, Decreased body weight,... ORPHA:800
Coffin-Siris Syndrome 4
Prominent interphalangeal joints, Short philtrum, Thick nasal alae, Agenesis of corpus callosum, ... OMIM:614609
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Postnatal growt... ORPHA:96184
Costello Syndrome
Thickened Achilles tendon, Depressed nasal bridge, Abnormal dental enamel morphology, Short statu... ORPHA:3071
Filippi Syndrome
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Postnatal growth ... OMIM:272440
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... ORPHA:1240
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Failure to thrive, Optic nerve hypoplasia, Broad nasal tip, Micrognathia, ... OMIM:620157
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Microcephaly, ... ORPHA:3304
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Achondrogenesis Type 1A
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Short foot, Short... ORPHA:93299
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,... ORPHA:171839
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Severe short stature, Irregular iliac crest, Abno... ORPHA:93316
Hartsfield Syndrome
Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of th... ORPHA:2117
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Microcephaly, Abnormality of the dentition, Postaxial hand polydact... ORPHA:1702
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Short stature, Small for gestational age, Hypoplasia of the maxilla, Cl... OMIM:614261
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Moynahan Syndrome
Short stature, Cachexia, Microcephaly ORPHA:2574
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Cerebral white matter atrophy, Thin upper lip vermilion, Micrognathia, Congenit... OMIM:615042
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Congenital diaphragmatic hernia, Micro... ORPHA:1915
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Microcephaly, Micrognathia, Submucous cleft hard ... ORPHA:2521
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypop... OMIM:166300
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Relative macrocephaly, Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesit... ORPHA:254525
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microcephaly, Abnormal nostril morphology, Narrow mouth, Micro... ORPHA:3469
Satb2-Associated Syndrome Due To A Pathogenic Variant
Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Postnatal growth retardation, Ce... ORPHA:576283
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Short stature, Primary microcephaly, Short nose, Pes cavus OMIM:245570
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Corpus callosum atrophy, Depressed nasal ridge, Gingival overgrowth, Limb ... OMIM:248500
Alagille Syndrome
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Long nose, Short philtrum, Dela... ORPHA:52
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Cerebral calcification, Micrognathia, Aplasia of the pectoralis major mu... ORPHA:1358
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
C Syndrome
Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh... OMIM:211750
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, High palate, Widely spaced teeth, Aplasia/Hyp... ORPHA:192
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... OMIM:154780
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... ORPHA:370959
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short stature, Cleft lip, Bulbous nose, Deep philtrum, Inabil... OMIM:618571
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Tented upper lip vermilion, High palate, Wide nasal bridge OMIM:616025
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Increased laxity of ankl... ORPHA:481152
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Obesity, Hip dysplasia, Thin vermilion border, Hi... OMIM:617991
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Depressed nasal bridge, Ataxia, Open mouth, Unsteady gait, Downturned corners o... OMIM:617865
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, ... OMIM:616920
Hydrolethalus
Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Postaxial hand polydactyly, Sub... ORPHA:2189
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars... OMIM:614613
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxil... ORPHA:245
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Trisomy 18
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Microretrognathia, S... ORPHA:3380
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te... OMIM:257850
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... ORPHA:457395
Achondrogenesis
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Short nose, Long ... ORPHA:932
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Tented upper lip vermilion, High, narrow palate, ... ORPHA:488632
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, T... ORPHA:2928
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... OMIM:618886
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Large for gestational age, Delayed epiphyseal ossification, Macroglossia,... ORPHA:226313
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Short stature, Jaundice, Early ossification of capital ... OMIM:208500
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ... OMIM:614753
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... ORPHA:2412
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Microscopic hematuria, Excessive bleeding after a venipuncture, Myoca... ORPHA:319213
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Flexion contracture of finger, Depressed nasal bridge, Anteverted nares, Overlapping to... ORPHA:254528
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverte... OMIM:614701
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Short stature, Micrognathia, Microcephaly, Bulbous nose, Wide n... ORPHA:93946
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Waddling gait, Short m... OMIM:612350
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... OMIM:619802
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cerebral calcification, Ataxia, Cachexia, Carious teeth, Cerebral cortic... ORPHA:2047
Perlman Syndrome
Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe... ORPHA:2849
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... OMIM:305400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Fractured radius, Small for gestational age, Decreased fibular dia... OMIM:616897
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Icf Syndrome
Depressed nasal bridge, Short stature, Protruding tongue, Micrognathia, Malabsorption, Macrogloss... ORPHA:2268
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Downturned corners of mouth, High palate, Depressed nasal bridge, Anteverted nares,... OMIM:613792
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Meckel Syndrome, Type 8
Anophthalmia, Microcephaly, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Ta... OMIM:613885
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Chromosome 19Q13.11 Deletion Syndrome, Distal
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Anteve... OMIM:613026
Mucolipidosis Ii Alpha/Beta
Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hypertropy, De... OMIM:252500
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia ... ORPHA:75564
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Nephr... OMIM:269920
Transient Neonatal Diabetes Mellitus
Macroglossia, Intrauterine growth retardation, Failure to thrive, Small for gestational age ORPHA:99886
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Convex nasal ridge, Micrognathia, Tibial bowing, High palate, Short philtrum, Cl... ORPHA:251028
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Short stature, Small for gestational age, Microcephaly, Hypoplasia of the ... ORPHA:93950
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Short stature, Broad nasal tip, Bifid nasal tip, Cleft palate, Poly... OMIM:300484
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Calcinosis, Plantar hyperkeratosis, Telangiect... ORPHA:2909
Chromosome 16Q22 Deletion Syndrome
Broad hallux, Depressed nasal bridge, Small for gestational age, Micrognathia, Postnatal growth r... OMIM:614541
Temple Syndrome
Relative macrocephaly, Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Microg... OMIM:616222
Recon Progeroid Syndrome
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, ... OMIM:620370
Alexander Disease Type I
Ataxia, Cachexia, Progressive macrocephaly, Abnormal cerebral white matter morphology, Focal T2 h... ORPHA:363717
Thyroid Hemiagenesis
Growth delay, Macroglossia, Jaundice ORPHA:95719
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... ORPHA:2741
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Mic... OMIM:241410
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, High... OMIM:143095
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Microcephaly, Temporal cortical atrophy, Athetosis, Lip disc... ORPHA:621
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Short stature, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpu... OMIM:300887
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Sho... ORPHA:2751
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, High palate, Hypoplasia of the corpus callosum, Narrow mou... ORPHA:217385
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, High palate,... OMIM:300676
Lujan-Fryns Syndrome
Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ... ORPHA:776
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Microc... ORPHA:3121
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, Micrognathia, Ata... ORPHA:48431
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... ORPHA:464321
Diastrophic Dysplasia
Bowing of the long bones, Cerebral calcification, Depressed nasal bridge, Camptodactyly of finger... ORPHA:628
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Failure to thrive, Single transverse palmar crease, Broad nasal tip, Overw... ORPHA:391372
Warburg Micro Syndrome 3
Decreased muscle mass, Micrognathia, Postnatal growth retardation, Microcephaly, Inability to wal... OMIM:614222
Otoonychoperoneal Syndrome
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f... OMIM:259780
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares,... ORPHA:2886
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Oculoskeletodental Syndrome
Short stature, Small for gestational age, Elbow flexion contracture, Wide nasal bridge, Lacunar s... OMIM:618440
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S... OMIM:619339
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High pala... ORPHA:254531
Trisomy 12P
Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of the iris, Dow... ORPHA:1699
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... ORPHA:3186
Intellectual Developmental Disorder, Autosomal Recessive 68
Pes planus, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Wide nasal bridge... OMIM:618302
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Agenesis of corpus ... OMIM:619194
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem... OMIM:619142
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... OMIM:212720
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hama... OMIM:258860
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Microcephaly, Small hand... ORPHA:444077
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly ORPHA:221054
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Small hand, Downturn... OMIM:618779
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Cleft soft palate, Prominent nose, Bulbous nose, Retrognathia, Depressed nasal t... ORPHA:293725
Primary Pulmonary Hypoplasia
Cyanosis, Abnormal hemidiaphragm morphology, Micrognathia, Microcephaly, Patellar hypoplasia, Cle... ORPHA:2257
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, Microcephaly, ... OMIM:300558
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Knee flexion contracture, Hypoplasia of the brainstem, Hi... OMIM:193700
Adams-Oliver Syndrome 4
Cutis marmorata, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx o... OMIM:615297
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... OMIM:246560
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, S... ORPHA:261494
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Restrictive Dermopathy 2
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Overtubulated long bones,... OMIM:619793
Tenorio Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Wide mouth, Macroglossia, Gait disturbance, R... OMIM:616260
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Meier-Gorlin Syndrome 5
Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular femoral epiphysis... OMIM:613805
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto... OMIM:612840
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Dental crowding, Clubbing, Hip dislocation, Macroglossia, Joint contracture of the hand OMIM:618523
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Waddling gait, Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb... ORPHA:156728
Chromosome 3Q29 Duplication Syndrome
Pes planus, Microcephaly, Abnormally large globe, Bulbous nose, Wide nasal bridge, Obesity, Multi... OMIM:611936
Sialuria
Thin upper lip vermilion, Wide nasal bridge, 2-3 toe syndactyly, Macroglossia, High palate, Macro... OMIM:269921
Acro-Renal-Ocular Syndrome
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... ORPHA:959
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Pes planus, Depressed nasal bridge, Exaggerated cupid's bow, Single transverse palmar crease, Mic... OMIM:620098
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Absent septum pellucidum, Microcephaly, Protruding tongue, Obesity, Growth dela... ORPHA:96147
Schilbach-Rott Syndrome
Short stature, Micrognathia, Long nose, Prominent nose, 2-3 toe cutaneous syndactyly, Microcephal... OMIM:164220
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Me... OMIM:276700
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Microcephaly, Inability to walk, Gait ataxia, Narrow mouth,... OMIM:616459
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamar... ORPHA:2930
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Cachexia, Microcephaly, Ataxia, Ileus, Athetosis, Malar fla... ORPHA:52503
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Arachnoda... ORPHA:1716
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... OMIM:617718
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subcortical b... OMIM:618737
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ... ORPHA:1427
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Anteverted nares, Cutis marmorata, Shor... ORPHA:109
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, P... OMIM:619489
Fucosidosis
Absent/hypoplastic paranasal sinuses, Wide nose, Depressed nasal bridge, Angiokeratoma, Short sta... OMIM:230000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Microcephaly, Cleft upper lip, Partial absence of cerebellar vermis, Increased ... OMIM:613150
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short philtrum, Clinodactyly of ... ORPHA:819
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial agenesis of the corpus callos... OMIM:615771
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Short stature, Underdevelope... OMIM:615866
Adams-Oliver Syndrome 2
Depressed nasal bridge, Cutis marmorata, Single transverse palmar crease, Micrognathia, Microceph... OMIM:614219
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Wide nasal bridge, Broad philtrum, ... OMIM:618577
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white m... OMIM:218000
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Erythema, Flexion contracture, Wide nasal b... OMIM:610015
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder girdl... OMIM:607155
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Broad thum... OMIM:614526
Thoracomelic Dysplasia
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... ORPHA:1803
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Hepatosplenomega... ORPHA:505248
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Depressed nasal bridge, Cutis marmorata, Megalencephaly, Progressive macrocephaly, Po... OMIM:602501
Cutis Laxa, Autosomal Recessive, Type Iia
Pes planus, Failure to thrive, Congenital hip dislocation, Anteverted nares, Microcephaly, Cariou... OMIM:219200
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose,... ORPHA:1200
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp... ORPHA:858
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Short stature, Microcephaly, Hip dislocation, Wide nasal bridge, Buphthalmos, ... OMIM:618005
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Pes cavus, Failure to thrive, Tented upper lip vermilion, Depressed nasal bridge, Short stature, ... OMIM:619833
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome... OMIM:105200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Shuffling gait, Lower limb mu... OMIM:300266
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... OMIM:166250
Tonne-Kalscheuer Syndrome
Pes planus, Broad-based gait, Short stature, Prominent nasal bridge, Congenital diaphragmatic her... OMIM:300978
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... OMIM:619148
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... OMIM:232220
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia... OMIM:255800
Stickler Syndrome
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Glossopt... ORPHA:828
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... OMIM:179270
Al Kaissi Syndrome
High, narrow palate, Decreased body weight, Depressed nasal bridge, Short stature, Decreased head... OMIM:617694
Cleidocranial Dysplasia 2
Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypopla... OMIM:620099
Tetrasomy 18P
Microcephaly, Narrow mouth, Large hands, Thin vermilion border, Gait disturbance, Long philtrum, ... ORPHA:3307
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Large for gestational age ORPHA:2432
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Cerebral calcification, Short stature, Ataxia, Cachexia, Microcephaly ORPHA:1933
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Short stature, Retrognathia, Orofacial cleft, Wide mouth, Lissencephaly... OMIM:614583
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Short stature, Prominent nasal bridge, Small for gestational age, Underdevelope... OMIM:611091
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Prematurely aged appearance, Cachexia, Microcephaly, Pre... OMIM:610965
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Equinovarus deformity,... ORPHA:3078
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus... OMIM:239300
Desmosterolosis
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Depressed nasal b... ORPHA:35107
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... ORPHA:84
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short metatarsal, Narrow foot, Gait ataxia, Finger clinodactyly,... ORPHA:2896
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Hurler Syndrome
Depressed nasal bridge, Anteverted nares, Hypoplasia of the femoral head, Broad nasal tip, Coxa v... OMIM:607014
Distal Xq28 Microduplication Syndrome
Short stature, Epistaxis, Short lingual frenulum, Broad nasal tip, Hypoplasia of the maxilla, Met... ORPHA:293939
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Micrognathia, Aplasia/Hypoplasia of... ORPHA:1234
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... ORPHA:93351
Myoclonic-Astatic Epilepsy
Syndactyly, Thin upper lip vermilion, Anteverted nares, Ataxia, Microcephaly, Thick lower lip ver... ORPHA:1942
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Short stature, Bilateral single transverse palmar creases, ... ORPHA:1786
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance... OMIM:215045
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Miscarriage, Broad long bones, Micromelia, Bowing of the legs, Micrognathia... ORPHA:1865
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad hallux, Microcephaly,... OMIM:614105
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Baker-Gordon Syndrome
Thin upper lip vermilion, Ataxia, Abnormal foot morphology, Inability to walk, Choreoathetosis, P... OMIM:618218
Athyreosis
Growth delay, Macroglossia, Short stature ORPHA:95713
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the philtrum, Micromelia, Microcep... ORPHA:1597
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, S... OMIM:302950
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr... OMIM:619143
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Abnormality of t... ORPHA:627
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Prominent nose, High palate, H... ORPHA:763
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Pes planus, Broad-based gait, Abnormal dental morphology, Micrognathia... ORPHA:369950
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Smooth philtrum, Short stature, Prominent nasal bridge, Optic nerve hypoplasia, Abnormally large ... OMIM:300749
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Spinocerebellar Ataxia 48
Gait ataxia, Ataxia, Cachexia, Dysmetria OMIM:618093
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Small for gestational age, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Short ph... ORPHA:228384
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Meier-Gorlin Syndrome 4
Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar a... OMIM:613804
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Depressed nasal bridge, T2 hypointense basal ganglia, Broad nasal tip, ... ORPHA:79255
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Rabson-Mendenhall Syndrome
Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Anteverted nares, Prominen... ORPHA:769
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Failure to thrive, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe synd... ORPHA:485405
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Microg... ORPHA:404440
Monosomy 18P
Short stature, Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Cleft palate, Downtu... ORPHA:1598
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
U-Shaped upper lip vermilion, Death in infancy, Tented upper lip vermilion, Anteverted nares, Sho... ORPHA:847
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Failure to thrive, Short stature, Microcephaly, Bifid nasal tip, Unilat... OMIM:618874
Congenital Generalized Lipodystrophy
Mandibular prognathia, Prominent superficial veins, Failure to thrive, Skeletal muscle hypertroph... ORPHA:528
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... ORPHA:96148
Familial Thyroid Dyshormonogenesis
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal ... ORPHA:95716
Wild Type Abeta2M Amyloidosis
Intestinal pseudo-obstruction, Abnormal tendon morphology, Macroglossia, Abnormal shoulder morpho... ORPHA:85446
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Inabi... OMIM:617802
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia,... OMIM:614744
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Microdontia, Bila... OMIM:618268
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum, De... ORPHA:93945
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Abnormal foot morphology, ... OMIM:249620
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... OMIM:268300
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Short th... OMIM:613390
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Overlapping toe, Short stature... OMIM:616723
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Limb muscle weakness, Cerebral cortical ... ORPHA:97229
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pes planus, Dental crowding, Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Ta... ORPHA:476126
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... ORPHA:2633
Oculodentodigital Dysplasia
Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture of the 5th ... OMIM:164200
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Growth delay, Microphthalmia, Failure to thrive, Agenesis of corp... OMIM:274270
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Acrofacial Dysostosis, Cincinnati Type
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft pala... OMIM:616462
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes... ORPHA:1908
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Short stature, Single transverse palmar crease, Microcephaly, Supernumera... OMIM:617412
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Microcephaly, Wide nasa... OMIM:224410
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Carious teeth, Deep philtrum, Thick lower lip vermilion, Abnorma... ORPHA:2701
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Short stature, Obesity, Genu valgum, Hi... ORPHA:1035
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp... ORPHA:352665
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Depressed nasal bridge, Short stature, Large for gestational age, Py... ORPHA:363705
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum... OMIM:618622
Marshall-Smith Syndrome
Bowing of the long bones, Failure to thrive, Anteverted nares, Choanal atresia, Protruding tongue... ORPHA:561
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Shor... OMIM:114300
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Mucopolysaccharidosis, Type Vii
Severe short stature, Short stature, Diastasis recti, Metatarsus adductus, Hypoplasia of the odon... OMIM:253220
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... ORPHA:79113
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi... OMIM:200600
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly, Hypoplasia of the maxilla, ... ORPHA:178303
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Peho Syndrome
Tented upper lip vermilion, Edema of the dorsum of feet, Tapered finger, Open mouth, Retrognathia... OMIM:260565
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Microcephaly, Abnormality of the dentition, Growth delay, Epiphyseal s... ORPHA:177
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Ataxia, Microcephaly, Inability to walk, Clinodactyly, Dysmetr... OMIM:618087
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Microretrognathia, Scapu... OMIM:618870
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Abnormal epiphysis morphology, Long philtrum, Abnormal v... ORPHA:90653
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Cleft pa... ORPHA:85284
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Tapered finger, Narrow mouth, Partial agenesis of the corpus callosum, Wide nasal b... OMIM:620250
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Secondary microcephaly OMIM:610992
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Pes planus, Short stature, Prominent nasal bridge, Proximal placement of th... ORPHA:251071
Orofaciodigital Syndrome Ix
Toe syndactyly, Short stature, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid ... OMIM:258865
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Anteverted nares, Cutis marmorata, Protruding tongue, Alveolar ridge overgrowt... OMIM:612938
Temtamy Syndrome
Pes planus, Dental crowding, Micrognathia, Hip dislocation, Thick corpus callosum, Hypoplasia of ... OMIM:218340
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Micr... ORPHA:2409
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... OMIM:154400
Raine Syndrome
Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Choanal stenosis, High p... OMIM:259775
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Short stature, Cachexia, Microcephaly, Ataxia, Choreoathetosis, Gai... ORPHA:702
Ulbright-Hodes Syndrome
Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal bridge, Humeroradial syn... ORPHA:3404
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Duodena... ORPHA:2547
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Congenital hip dislocation, Prominent veins on trunk, High palate, Pachygy... ORPHA:357074
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Abnormal dental p... ORPHA:2791
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Wide anterior fonta... OMIM:225410
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Short stature, Achilles tendon co... OMIM:252940
Toluene Embryopathy
Short stature, Tapered finger, Micrognathia, Microcephaly, Thin vermilion border, Hypoplasia of t... ORPHA:1920
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Aplasia/Hypoplasia of... ORPHA:93262
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Microcephaly, Thick vermilion border, Long philtrum, Short nose ORPHA:833
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co... ORPHA:63446
Pyruvate Dehydrogenase E1-Alpha Deficiency
Pes cavus, Small for gestational age, Talipes, Single transverse palmar crease, Microcephaly, Ata... ORPHA:79243
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary tra... ORPHA:79301
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Micrognathia, Prominent nose, High palate, Agenesis of corpus ca... ORPHA:363528
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... ORPHA:429
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Micrognathia, Death in infancy, Short stature, Thick vermilion border, N... OMIM:608779
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Microcephaly, Abnormality o... ORPHA:2220
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... OMIM:613313
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Primary microcephaly, Bul... OMIM:618828
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... ORPHA:1225
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cleft palate, Hypoplasia of the corpus ... OMIM:164180
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Cyanosis, Ataxia, Progressive microcephaly ORPHA:71277
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... OMIM:615777
Fetal Trimethadione Syndrome
Depressed nasal bridge, Microcephaly, Micrognathia, High palate, Intrauterine growth retardation,... ORPHA:1913
Van Maldergem Syndrome 1
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:601390
Congenital Macroglossia
Macroglossia ORPHA:2430
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Talipes, Abnormal thumb morpholo... ORPHA:1842
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... OMIM:121300
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Dysplastic corpus callosum, Depresse... OMIM:616854
Dpm1-Cdg
Failure to thrive, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Ataxia, Microg... ORPHA:79322
Macroglossia
Macroglossia OMIM:153630
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antev... ORPHA:59315
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... ORPHA:615
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... ORPHA:85447
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... OMIM:217980
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metaphyseal widening, Hypo... OMIM:614524
Roifman Syndrome
Narrow nasal bridge, Hip contracture, Thin upper lip vermilion, Epiphyseal dysplasia, Short statu... ORPHA:353298
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Marshall Syndrome
Cerebral calcification, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Hy... ORPHA:560
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Severe short stature, Short stature, Intestinal pseudo-obstruction, Sp... OMIM:309900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Sandal gap, Short stature, Dental c... OMIM:617877
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... ORPHA:3429
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cerebellar vermis hypoplasia, Hig... OMIM:618494
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Small hand, Sho... ORPHA:238750
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Micrognathia, Microcephaly, Flexion contracture, Cerebral atrophy, Seco... OMIM:615851
Marburg Hemorrhagic Fever
Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos... ORPHA:99826
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... ORPHA:464738
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa... OMIM:617602
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, High palate, Bilateral coxa valga, Bifid uvula... OMIM:615582
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Depressed nasal bridge, Micromelia, Dumbbell-shaped long bone, Hypopla... OMIM:151210
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Dysmetria, H... ORPHA:3041
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... OMIM:617061
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Microcephaly, Polydactyly, Intrauterine growth retardation, Short nose, H... OMIM:616910
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... ORPHA:251014
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent... OMIM:608612
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Ma... OMIM:601356
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Dental crowding, Poor wound healing, Facial hypotonia, Narrow mouth, Cerebral atr... OMIM:615539
Momo Syndrome
Delayed eruption of teeth, Cutis marmorata, Short stature, Large for gestational age, Bilateral m... ORPHA:2563
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Short stature, Prea... OMIM:610536
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Dental crowding, Abnormally ... OMIM:269300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, S... OMIM:612530
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Talipes, Microcephaly, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowed tongu... ORPHA:453499
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... OMIM:276820
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Depressed nasal bridge, Short statu... ORPHA:94065
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Metaphyseal widening, Coxa vara, Genu varum, Depressed nasal bridge, Antev... OMIM:271510
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Short stature, Carious t... OMIM:253200
Micro Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Micrognathia, Microcephaly, Wide n... ORPHA:2510
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Disproportionate short stature,... ORPHA:1801
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... OMIM:605130
Fetal Hydantoin Syndrome
Short stature, Microcephaly, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip v... ORPHA:1912
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Single transverse palmar crease, Congenital diaphragmatic hernia, O... ORPHA:1692
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Micrognathia, Microcephaly, Downturned corners of mouth, Lissencephaly, Neonata... OMIM:616342
Harel-Yoon Syndrome
Mandibular prognathia, Ataxia, Micrognathia, Talipes equinovalgus, Inability to walk, Distal amyo... OMIM:617183
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger,... OMIM:210720
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... OMIM:619854
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ... ORPHA:373
Roifman Syndrome
Hip contracture, Short metacarpal, Thin upper lip vermilion, Anteverted nares, Short stature, Sin... OMIM:616651
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... ORPHA:158029
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cerebellar vermis, Ataxia, Microcepha... OMIM:213300
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose ORPHA:1514
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Hypoplasia of the musculature,... OMIM:265050
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Tapered finger, Microcephaly, Abnormality of the dentiti... ORPHA:65286
Cerebrooculonasal Syndrome
Anophthalmia, Cerebellar vermis hypoplasia, Downturned corners of mouth, High palate, Dandy-Walke... OMIM:605627
Acrofrontofacionasal Dysostosis
Brachydactyly, Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline c... ORPHA:1784
Joubert Syndrome 37
Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Postaxial polydactyly, ... OMIM:619185
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Microcephaly, Abnormality of the dentition, Deep philtrum, Wide nasal... ORPHA:251038
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropen... ORPHA:79312
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Ataxia, Cachexia, Microcephaly, Inability to walk, Upper-limb joint cont... ORPHA:300605
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Huntington Disease-Like 2
Caudate atrophy, Weight loss, Abnormal cerebral morphology, Gait disturbance, Cerebral cortical a... ORPHA:98934
Desmosterolosis
Relative macrocephaly, Hypoplastic nasal bridge, Failure to thrive, Rhizomelia, Anteverted nares,... OMIM:602398
Hurler Syndrome
Death in infancy, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short statur... ORPHA:93473
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnoda... OMIM:309520
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... ORPHA:3226
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Gomez-Lopez-Hernandez Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Agenesis of cerebellar vermis, Ata... OMIM:601853
Jaberi-Elahi Syndrome
Broad-based gait, Depressed nasal bridge, Microcephaly, Inability to walk, Globus pallidus hypoin... OMIM:617988
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Severe short stature, Cerebral calcification, Facial palsy, Micrognath... ORPHA:2780
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Anal atresia, Wide nose, Toe syndactyly, Camptodactyly of finger, Microgna... ORPHA:261337
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Skeletal muscle atrophy, Anteverted nares, Short stature, Cachexia, Midline de... ORPHA:1969
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Cleft palate, ... ORPHA:2635
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Positional foot deformity, Gait atax... ORPHA:496790
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Weight loss ORPHA:2221
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Cerebellar vermis hypoplasia, Anteverted nares, Overlapping toe, Tented uppe... OMIM:619383
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central... OMIM:309580
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... OMIM:211350
Waardenburg Syndrome Type 3
Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Microcephaly, Abnormal ... ORPHA:896
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia ORPHA:37748
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Failure to thrive in infancy... ORPHA:488627
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Nicolaides-Baraitser Syndrome
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... OMIM:601358
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Thomas Syndrome
Oligohydramnios, Cleft palate, Cleft upper lip ORPHA:3316
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Short... OMIM:611717
Lissencephaly 8
Skeletal muscle atrophy, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... OMIM:617255
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Short stature, Depressed nasal bridge, Submucous cleft hard palate, Finger j... OMIM:601492
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Disproportionate short-limb s... OMIM:618618
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Facial Clefting, Oblique, 1
Cleft upper lip, Talipes calcaneovalgus, Cleft palate, Deep palmar crease, Microphthalmia OMIM:600251
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Rocker bottom foot, Micrognathia, Prominent nose, Talipes equinovalgus... ORPHA:453510
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom... OMIM:300912
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Short sta... ORPHA:647
3C Syndrome
Micrognathia, High, narrow palate, Orofacial cleft, Aplasia/Hypoplasia of the cerebellum, Dandy-W... ORPHA:7
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Premature loss... ORPHA:99843
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Brachydactyly, Limited elbow extension and supination, Prominent nasal ... ORPHA:401935
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Short stature, Bilateral single transverse palmar creases, Micrognathia, Obesit... ORPHA:3191
Stromme Syndrome
Cerebellar vermis hypoplasia, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Mi... OMIM:243605
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Nanophthalmos 2
Microphthalmia OMIM:609549
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, First degree atrioventricular block, Cellular urinary ca... ORPHA:509
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, ... ORPHA:1295
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra... OMIM:601559
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu... OMIM:608940
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Bilateral single transverse palmar creases, Prominent nasal bridge, Camptodactyly of finger, Micr... ORPHA:2083
Radio-Renal Syndrome
Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypo... ORPHA:3015
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Short stature, Small for gestational age, Secondary microcephaly, Hypop... ORPHA:289266
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Short stature, Facial hypotonia, Microcephaly, Broad nasal tip, Protruding tongu... OMIM:618106
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Abnormality of the hand, Atrophic muscularis propria, Ragged-red... ORPHA:298
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Flexion co... OMIM:619124
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Cavum septum pellu... OMIM:247200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Ataxia,... OMIM:618430
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Growth delay, Microcephaly OMIM:614082
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... ORPHA:1836
Juvenile Polyposis Of Infancy
Depressed nasal bridge, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Narrow mou... ORPHA:79076
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal limb bone morphology, Short stature, Microcephaly ORPHA:2204
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Micrognathia, R... ORPHA:163961
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Metaphyseal dysplasia, Epiphyseal dysplasia, Depressed nasal bridge, Postnatal growth retardation... OMIM:614732
Meier-Gorlin Syndrome 6
Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Sandal gap, Un... OMIM:616835
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Primary mic... OMIM:620183
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... OMIM:129400
H Syndrome
Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosp... ORPHA:168569
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... OMIM:619950
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Short stature, Aganglionic megacolon, Broad nasal tip,... OMIM:614207
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... OMIM:612394
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Warburg Micro Syndrome 4
Decreased muscle mass, Anteverted nares, Prominent nasal bridge, Short stature, Inability to walk... OMIM:615663
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Thin upper lip vermilion, Small fo... OMIM:607143
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Macrocepha... OMIM:109120
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial f... ORPHA:79259
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo... ORPHA:251004
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Disproportionate short stature, Acromesomelia, ... ORPHA:40
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... ORPHA:824
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... OMIM:602390
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Microcephaly, Bulbous nose, Wide nasal bridg... ORPHA:250989
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... ORPHA:2378
Acromesomelic Dysplasia 4
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... OMIM:619636
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Cockayne Syndrome
Skeletal muscle atrophy, Cerebral calcification, Basal ganglia calcification, Congenital contract... ORPHA:191
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Relative macrocephaly, Rhizomelia, Metaphyseal widening, Irregular epiphys... OMIM:612813
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... OMIM:611209
Oculodentodigital Dysplasia
Mandibular prognathia, Cerebral calcification, Micrognathia, Clinodactyly of the 5th finger, Apla... ORPHA:2710
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi... OMIM:117650
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choanal stenosis... ORPHA:798
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa... OMIM:224690
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Short stature,... OMIM:147250
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:261211
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... ORPHA:1135
Van Maldergem Syndrome 2
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:615546
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Waddling gait, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... OMIM:608728
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridge, Postaxial po... OMIM:614424
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Lissencephaly, Secondar... ORPHA:50810
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinodactyly, Dentino... ORPHA:166277
Three M Syndrome 1
Mandibular prognathia, Pes planus, Scapular winging, Depressed nasal bridge, Anteverted nares, Sh... OMIM:273750
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Long ... OMIM:616894
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... ORPHA:50945
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosin, Facial palsy, ... ORPHA:258
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... OMIM:616007
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Short stature, Prominent nasal bridge, Ataxia, Broad nasal tip, Long nose, Micr... OMIM:616541
Amish Lethal Microcephaly
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Microcephaly, Li... ORPHA:99742
Toriello-Carey Syndrome
Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, High palate, Aplas... ORPHA:3338
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Tented philtr... ORPHA:363659
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hyp... OMIM:617895
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus cal... OMIM:614833
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Secondary microcephaly, Short philtrum, Hypoplasia of the co... OMIM:618437
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Abnormal fibula morphology... ORPHA:1812
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Anter... OMIM:268400
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Neu-Laxova Syndrome
Skeletal muscle atrophy, Cerebral calcification, Micromelia, Micrognathia, Flexion contracture, D... ORPHA:2671
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Smooth ph... OMIM:611867
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis, Macrocephaly ORPHA:42
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... ORPHA:98913
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, Deep philtrum, Dental malo... ORPHA:329178
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Congestive heart fail... ORPHA:108
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short stature, Cleft soft palate, Micrognathia, Microcephaly, Wide nasal bridge... ORPHA:2282
Alkuraya-Kucinskas Syndrome
Micrognathia, Hypoplasia of the brainstem, High palate, Dandy-Walker malformation, Depressed nasa... OMIM:617822
Galloway-Mowat Syndrome 1
Micrognathia, Prominent nose, Hypoplasia of the iris, Hypoplasia of the brainstem, High palate, P... OMIM:251300
Laron Syndrome
Limb undergrowth, Delayed menarche, Severe short stature, Short long bone OMIM:262500
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, H... OMIM:607597
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Failure to thrive, Cyanosis ORPHA:91130
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Short s... OMIM:139210
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... OMIM:223800
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midline cleft lip, D... ORPHA:1791
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Microcephaly, Postnatal growth retardation, Flexion cont... OMIM:614225
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Underdeveloped nasal alae, W... OMIM:614230
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Pallister-Hall Syndrome
Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... OMIM:146510
Prader-Willi Syndrome Due To Translocation
Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th f... ORPHA:177907
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Proximal placement of thumb, Short stature, Diastema, Gingival overgrowth,... OMIM:212066
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau... OMIM:272950
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Postnatal growth... ORPHA:93324
Short Syndrome
Severe short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal z... ORPHA:3163
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Optic disc pallor, Petechiae, Splenomegaly, Optic atrophy, Anemia,... OMIM:611490
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Acroosteolysis of d... ORPHA:90154
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Depressed nasal bridge, Abnormality of the dentition, Upper limb under... OMIM:169400
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypopl... ORPHA:79345
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... OMIM:618727
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Short stature, Prominent nasal bridge, Micrognath... OMIM:613803
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Waddling gait, Cyanosis, Congenital hip dislocation, Ataxia, Limb-girdle muscl... ORPHA:98914
Congenital Myasthenic Syndrome
Microretrognathia, Waddling gait, Cyanosis, Congenital hip dislocation, Ataxia, Limb-girdle muscl... ORPHA:590
Biemond Syndrome Type 2
Short stature, Preaxial polydactyly, Obesity, Delayed puberty, Microphthalmia ORPHA:141333
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Prominent nose, Microcephaly, Wide anterior fontanel... OMIM:614886
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Aplastic anemia, Pancyt... ORPHA:398124
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Microcephaly, 2-3 ... OMIM:616449
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... OMIM:302350
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Microcephaly, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections,... ORPHA:2399
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... ORPHA:508533
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Short stature, Cleft upper lip, Wide nasal bridge, Cleft... OMIM:201180
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Prominent nose, Microcephaly, Abnormal carpal morphology, Obesity, Madelung deform... ORPHA:319675
Trisomy 10P
Decreased muscle mass, Micrognathia, Simplified gyral pattern, Orofacial cleft, High palate, Abno... ORPHA:171929
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Short stature, Small for gestational age, Single transverse palmar cre... ORPHA:73272
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar... OMIM:122470
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de... OMIM:614069
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Glycogen Storage Disease Ia
Abnormal bleeding, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Nephrolithias... OMIM:232200
Mend Syndrome
Overlapping fingers, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Short s... ORPHA:401973
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Mosaic Variegated Aneuploidy Syndrome 1
Micrognathia, Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:257300
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flat... ORPHA:2835
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Absent thumb, Submucous cleft hard palate, Failure to thrive, Bifid uvula OMIM:619239
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Decreased body weight, Depressed nasal bridge, Anteverted nares, Aki... OMIM:608013
Schisis Association
Small for gestational age, Congenital diaphragmatic hernia, Micromelia, Microcephaly, Anencephaly... ORPHA:63862
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Prot... OMIM:175500
Frontorhiny
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu... ORPHA:391474
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad ... OMIM:152950
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... OMIM:616589
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Severe short stature, Broad long bones, Micromelia, Micrognathia, Equin... OMIM:224400
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protru... OMIM:300963
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop... OMIM:620210
Autosomal Recessive Cutis Laxa Type 2A
Pes planus, Thick cerebral cortex, Cerebellar vermis hypoplasia, Congenital hip dislocation, Prom... ORPHA:357058
Erythrokeratodermia Variabilis
Short stature, Tapered finger, Microcephaly, Erythema, Patchy palmoplantar hyperkeratosis, Weight... ORPHA:317
Stevenson-Carey Syndrome
Prominent nasal tip, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin sequ... OMIM:611961
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Talipes, Cleft palate... ORPHA:83
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors, Short stature, Microcephaly OMIM:300915
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Cerebrofacioarticular Syndrome
Syndactyly, Irregular dentition, Cerebellar vermis hypoplasia, Short stature, Anal stenosis, Atax... ORPHA:314679
Dystonia-Aphonia Syndrome
Unsteady gait, Gingival overgrowth, Cerebral atrophy, Macroglossia, Gait disturbance, Difficulty ... ORPHA:412217
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Depressed nasal bridge, Facial hypotonia, Ataxia, Genu valgum, Hypoplastic... ORPHA:309282
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Smooth philtrum, Progressive leukoencephalopathy, Tented upper lip vermilion, Rocker bottom foot,... OMIM:617527
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Microcephaly, Flexion contractu... ORPHA:544503
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature, Progeroid f... OMIM:231070
Holoprosencephaly 9
Anophthalmia, Hypoplasia of the maxilla, Partial agenesis of the corpus callosum, Single naris, S... OMIM:610829
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ... OMIM:119800
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal... OMIM:193235
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth... OMIM:601216
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Depressed nasal bridge, ... OMIM:608156
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta... ORPHA:228396
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Cerebral white matter atrophy, Tented upper lip vermilio... ORPHA:521426
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Long philtrum, Syndactyly, Depressed nasal bridge... ORPHA:97360
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Underdeveloped na... ORPHA:284160
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Macroc... ORPHA:210548
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Teebi Hypertelorism Syndrome 1
Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short stature, M... OMIM:145420
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Reduced cerebral white matter volume, Underdeveloped nasal alae, Tapere... OMIM:615803
Neuhauser Syndrome
Pes planus, Arachnodactyly, Depressed nasal bridge, Short stature, Micrognathia, Microcephaly, Ge... OMIM:249310
Ohdo Syndrome, X-Linked
Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Long philtrum, Depre... OMIM:300895
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, High p... OMIM:612513
Thyroid Dyshormonogenesis 1
Growth delay, Macroglossia OMIM:274400
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Short stature, Underdeveloped nasal alae, Microcepha... ORPHA:2315
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening OMIM:241310
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hypoplastic ilia, Wide... ORPHA:1860
Fanconi Anemia, Complementation Group P
Short stature, Absent thumb, Micrognathia, Short thumb, Bulbous nose, Hypoplasia of the radius, M... OMIM:613951
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly OMIM:610023
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Gingival bleeding, Left ventricular hypertrophy, Microphthalmia, V... ORPHA:335
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl... ORPHA:64743
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Image Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Intrauterine growth retardation ORPHA:85173
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Steatorrhea, Short palm, Cutaneous photosensitivity, Bra... ORPHA:3217
Trigonocephaly 1
Microcephaly, High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum OMIM:190440
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Hypoplasia of the pons, Wide... OMIM:616430
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
C Syndrome
Micromelia, Micrognathia, Congenital diaphragmatic hernia, High palate, Biparietal narrowing, Cli... ORPHA:1308
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Overlapping toe, Pr... OMIM:618316
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Short stature, Esophagea... OMIM:619859
Marshall-Smith Syndrome
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... OMIM:602535
Bamforth-Lazarus Syndrome
Polyhydramnios, Cleft palate OMIM:241850
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ... ORPHA:507
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Shor... OMIM:609053
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Microce... OMIM:609460
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Hydranencephaly, Anteverted nares, Single transverse palmar crease, Narrow nas... OMIM:236500
Idiopathic Bronchiectasis
Clubbing, Cachexia ORPHA:60033
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Microcephaly, Long fingers, Cleft palate, High palate, Hypo... OMIM:156610
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Short stature, Micrognathia, Microcephaly, Small for gestatio... OMIM:614114
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Reduced cerebral white matter volume, Long fibula, Small basal ganglia, Depressed nasal bridge, S... OMIM:610442
Joubert Syndrome 22
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... OMIM:615665
Peho Syndrome
Anteverted nares, Tapered finger, Microcephaly, Open mouth, Porencephalic cyst, Flexion contractu... ORPHA:2836
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Wide nose, Short stature, Camptodactyly of finger, Abnormal dental morphology, Recu... ORPHA:217093
Sanjad-Sakati Syndrome
Intestinal obstruction, Depressed nasal bridge, Abnormal dental enamel morphology, Short stature,... ORPHA:2323
Kapur-Toriello Syndrome
Overlapping fingers, Bilateral single transverse palmar creases, Camptodactyly of finger, Intesti... OMIM:244300
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Osteoporosis-Pseudoglioma Syndrome
Waddling gait, Crumpled long bones, Short stature, Metaphyseal widening, Abnormal femoral neck/he... ORPHA:2788
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen... OMIM:210710
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pigmentary retinopathy... OMIM:253250
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenome... OMIM:230800
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... ORPHA:99931
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hypo... OMIM:215140
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Talipes, Pos... OMIM:619879
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Meckel Syndrome, Type 4
Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial hand polydactyly... OMIM:611134
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at... ORPHA:57777
Paternal Uniparental Disomy Of Chromosome 6
Micrognathia, Postnatal growth retardation, Prominent nose, Gingival overgrowth, Macroglossia, Hi... ORPHA:96191
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 to... OMIM:609625
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Micrognathia, Flexion contracture, High palate, Shor... OMIM:620369
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Diffuse telangiectasia, Concave nasal ridge, High palate, P... OMIM:170100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... OMIM:614749
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Prominent nose, Basal ganglia calcification, Flexion contracture, Premat... OMIM:256040
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Thin upper lip vermilion, Anteverted nares, Microcephaly, Inability to w... OMIM:103050
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Abs... ORPHA:899
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Short stature, Prominent nasal bridge, Microcephaly, Protruding tongue, Dyspla... OMIM:619179
Lathosterolosis
Toe syndactyly, Anteverted nares, Cerebral calcification, Talipes, Micrognathia, Microcephaly, Bu... ORPHA:46059
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Fanconi Anemia, Complementation Group W
Absent thumb, Microcephaly, Hypoplasia of the radius, Growth delay, Abnormal radial ray morpholog... OMIM:617784
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Underdeveloped nasal alae, Prominent nose, Microcephaly, Microdontia, Disproportionat... ORPHA:2637
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa vara, Thin vermi... OMIM:602557
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c... OMIM:611773
Axenfeld-Rieger Syndrome
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypo... ORPHA:782
Donnai-Barrow Syndrome
Diaphragmatic eventration, Depressed nasal bridge, Intestinal malrotation, Congenital diaphragmat... OMIM:222448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa... OMIM:613153
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Severe short stature, Micromelia, Coxa vara ORPHA:168555
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Hypoplasia of the ... OMIM:214800
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, A... OMIM:612651
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Wide nose, Short stature, Camptodactyly of finger, Abnormal dental morphology, Recu... ORPHA:217085
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... OMIM:234100
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Short stature, Camptodactyly of finger, Abnormality of the hum... ORPHA:3138
Isolated Thyroid-Stimulating Hormone Deficiency
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Growth delay, Macroglos... ORPHA:90674
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Microcephaly, Protruding tongue, Inability to walk, Gait ataxia, Choreoathetosi... OMIM:619580
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... ORPHA:514
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue, Microcephaly DECIPHER:52
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Narrow grea... OMIM:312870
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... ORPHA:306542
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Greenberg Dysplasia
Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Severe short-limb dwarfi... ORPHA:1426
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Clinodactyly of the 5th fin... OMIM:167730
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Microcephaly, Postnatal growth retardation, Cleft palate, Hypopl... ORPHA:2728
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... OMIM:618495
Intestinal Dysmotility Syndrome
Weight loss, High palate, Pes valgus, Failure to thrive, Broad philtrum OMIM:620045
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... OMIM:106260
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Prominent nasal bridge, Microcephaly, Long nose, Postnatal gro... OMIM:619184
Native American Myopathy
Skeletal muscle atrophy, Short stature, Submucous cleft soft palate, Micrognathia, Inability to w... ORPHA:168572
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Holoprosencephaly 7
Partial agenesis of the corpus callosum, Hypoplastic nasal septum, Hypoplasia of the brainstem, A... OMIM:610828
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Proportionate short stature, Micrognathia, Underdeveloped nasal ala... ORPHA:2108
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... ORPHA:235
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla... ORPHA:251061
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... OMIM:614091
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Depres... OMIM:618019
Oculocerebral Hypopigmentation Syndrome, Cross Type
Arachnodactyly, Depressed nasal bridge, Anteverted nares, Short stature, Abnormal thumb morpholog... ORPHA:2719
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, High palate, Clinodact... ORPHA:2059
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Short stature, Micrognathia, Macrocephaly, Clinodactyly of the 5th finger,... OMIM:617306
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ... ORPHA:2414
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Microcephaly, Hip dislocation, Wide mouth, Long philtrum, Short nose, Fai... OMIM:608776
Pulmonary Blastoma
Weight loss ORPHA:64741
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... ORPHA:2588
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abn... ORPHA:33226
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Shor... ORPHA:261236
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... ORPHA:2554
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Relative macrocephaly, Rhizomelia, Absent nasal bridge, Mesomelia, Broad t... ORPHA:171866
Costello Syndrome
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Short stature,... OMIM:218040
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth OMIM:300143
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Short stature, Depressed nasal ridge, Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Microgn... OMIM:614080
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... ORPHA:520
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... OMIM:213980
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Wi... ORPHA:457279
Silver-Russell Syndrome 3
Relative macrocephaly, Syndactyly, Short stature, Elbow contracture, Small for gestational age, P... OMIM:616489
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Short stature, Small ... OMIM:616229
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Gro... OMIM:234050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... OMIM:618914
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Micrognath... ORPHA:37553
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... ORPHA:3107
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Congenital d... OMIM:601803
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ... ORPHA:91138
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Cardiac arrest ORPHA:77260
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... ORPHA:77259
Fibrochondrogenesis
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing... ORPHA:2021
Opsismodysplasia
Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Metaphyseal cupping, Hypo... OMIM:258480
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Kagami-Ogata Syndrome
Depressed nasal bridge, Anteverted nares, Diastasis recti, Micrognathia, Hypoplasia of the maxill... OMIM:608149
Shprintzen-Goldberg Craniosynostosis Syndrome
Pes planus, Anteverted nares, Arachnodactyly, Genu recurvatum, Micrognathia, Hypoplasia of the ma... OMIM:182212
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p... OMIM:302960
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Malar flattening, Neonatal short-limb short... OMIM:600972
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Pes planus, Wide nose, Short stature, Prominent nasal bridge, Hypoplas... ORPHA:50814
Congenital Rubella Syndrome
Short stature, Microcephaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal m... ORPHA:290
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short stature, Genu recurvatum, Downturned corners of mouth, Slender long bone,... ORPHA:1185
Laryngeal Abductor Paralysis
Cyanosis, Talipes equinovarus, Microcephaly OMIM:150260
Lhermitte-Duclos Disease
Ataxia, Macroglossia, Hand polydactyly, Macrocephaly, Polymicrogyria ORPHA:65285
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ... OMIM:256520
Jeune Syndrome
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... ORPHA:474
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Short stature, Congenital diaphragmatic hernia, Underdeveloped nasal alae... ORPHA:250999
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv... OMIM:612292
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy... OMIM:618454
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Short toe,... OMIM:269860
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Opsismodysplasia
Severe short stature, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pu... ORPHA:2746
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Coloboma, Atrial septal defect,... OMIM:618652
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Prominent nose, High, narrow palate, Increased head circumference, Short philtru... OMIM:300967
Gracile Bone Dysplasia
Death in infancy, Short stature, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, ... OMIM:602361
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal ala... ORPHA:228390
Lymphoid Interstitial Pneumonia
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Pulmonary venous hypertension, Enl... ORPHA:79128
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Depressed nasal bridge, Optic nerve hypoplasia, Overweight, Delayed proximal ... ORPHA:226307
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... OMIM:609616
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Short femur, Limited elbow movement, Micrognathia, Abnormal foot morphology, Dispr... ORPHA:94068
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, M... OMIM:251270
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Optic disc hypoplasia, Anteverted nares... ORPHA:233
Majeed Syndrome
Cachexia, Malabsorption, Flexion contracture, Weight loss, Failure to thrive, Metaphyseal irregul... ORPHA:77297
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Trisomy 13
Anophthalmia, Median cleft lip, Bilateral single transverse palmar creases, Abnormality of the de... ORPHA:3378
Meckel Syndrome 12
Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Micrognathia, Microcephaly, ... OMIM:616258
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, M... ORPHA:261272
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Ataxia, Adenoiditis, Avascular necrosis of the capital femoral epiphys... ORPHA:581
Meckel Syndrome, Type 2
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Anencephaly, Cleft ... OMIM:603194
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... OMIM:130650
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Fibular aplasia OMIM:218550
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Short stature, Limited elbow move... OMIM:617809
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Cerebral calcification, Intestinal malrotation, Microgna... ORPHA:3035
Fontaine Progeroid Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Hypoplasi... OMIM:612289
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P... OMIM:180849
Donnai-Barrow Syndrome
Depressed nasal bridge, Intestinal malrotation, Congenital diaphragmatic hernia, Wide anterior fo... ORPHA:2143
Cockayne Syndrome B
Mandibular prognathia, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand,... OMIM:133540
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis... ORPHA:570
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Short stature, Proximal placement of thumb, Long no... OMIM:620113
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Orofacial cleft, Microphthalmia, Congenital muscular dystrophy, Type II li... ORPHA:324416
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari... OMIM:277440
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... ORPHA:989
Rauch-Steindl Syndrome
Depressed nasal bridge, Short stature, Miscarriage, Micrognathia, Postnatal growth retardation, M... OMIM:619695
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Branchiogenic-Deafness Syndrome
Short stature, Abnormal foot morphology, Trismus, Submucous cleft hard palate, Short distal phala... OMIM:609166
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Short stature, Small for gestational age, Microcephaly,... OMIM:601675
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... OMIM:163400
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate,... OMIM:611561
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Br... OMIM:277600
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Microm... ORPHA:1675
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Clinodact... OMIM:244450
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Micrognathia, Unsteady gait, Cerebral atrophy, Short nose OMIM:256600
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Sweeney-Cox Syndrome
Micrognathia, High palate, Short philtrum, 2-5 toe syndactyly, Median cleft palate, 2-4 finger sy... OMIM:617746
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Microvesicular hepat... OMIM:212140
Galloway-Mowat Syndrome 3
Failure to thrive, Short stature, Arachnodactyly, Micrognathia, Microcephaly, Hiatus hernia, Narr... OMIM:617729
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Depressed nasal bridge, Megalencephaly, Wide anterior fontanel,... OMIM:616482
Dubowitz Syndrome
Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly ... OMIM:223370
Double Outlet Right Ventricle
Cyanosis, Depressed nasal bridge, Short stature, Intestinal malrotation, Submucous cleft hard pal... ORPHA:3426
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Depressed nasal bri... OMIM:300990
Stickler Syndrome, Type I
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Micrognathia, Irregular femoral epiphys... OMIM:108300
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the brainstem, Widely spaced teeth, Short stature, Cleft soft palate, Ataxia, Taper... ORPHA:268261
Cornelia De Lange Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragmatic hernia, Downturne... ORPHA:199
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Sandhoff Disease
Skeletal muscle atrophy, Ataxia, Death in childhood, Macroglossia, Macrocephaly OMIM:268800
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Tapered finger, Microcephaly, Broa... OMIM:619680
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisor... ORPHA:2063
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin... ORPHA:794
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Microcephaly, Bulbous nose... ORPHA:99776
Gorlin-Chaudhry-Moss Syndrome
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology,... ORPHA:2095
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ... OMIM:166210
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Abnormal basal ganglia morphology, Cerebral atr... ORPHA:391428
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Cardiac arrest, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubul... ORPHA:139402
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femoral metaphys... ORPHA:168549
Kabuki Syndrome 2
Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retardation, Microcep... OMIM:300867
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Lower limb muscle weakness, Limb-girdle muscle weakness, Rhabdomyolysis, Macroglos... OMIM:251900
Oculo-Palato-Cerebral Syndrome
Short stature, Microcephaly, High, narrow palate, Small hand, Cleft palate, Aplasia/Hypoplasia of... ORPHA:2714
Cat-Eye Syndrome
Short stature, Hip dysplasia, Microphthalmia, Anal atresia, Intrauterine growth retardation ORPHA:195
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... OMIM:211380
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Slc35A2-Cdg
Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Short tibia, Da... ORPHA:356961
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy ORPHA:79292
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice... ORPHA:91547
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of... ORPHA:1765
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Mild sh... OMIM:620292
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microcephaly, Micrognathia, Lower limb asymmetry, Cleft palate, Upper limb asymmet... ORPHA:2505
Thyroid Hypoplasia
Growth delay, Macroglossia, Jaundice, Short stature ORPHA:95720
Fanconi Anemia, Complementation Group R
Anal atresia, Microcephaly, Absent thumb, Agenesis of permanent teeth, Growth delay, Microphthalm... OMIM:617244
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Short stature, Small for gestational age, Failure to thrive in infancy, Microce... OMIM:618891
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Anteverted nares, Prominent nasal bridge, Proportionate short stature, Down-sloping s... OMIM:227330
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater sciatic notch, S... OMIM:250220
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... OMIM:619005
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Thin upper lip vermilion, Anteverted nares, Sandal gap, High, narrow palate, Subm... OMIM:612863
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Aspartylglucosaminuria
Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car... ORPHA:93
Ring Chromosome 7 Syndrome
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... ORPHA:1449
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... ORPHA:139471
Gm1-Gangliosidosis, Type Ii
Ataxia, Coxa valga, Protruding tongue, Gingival overgrowth, Cerebral atrophy, Hypoplastic vertebr... OMIM:230600
Dravet Syndrome
Pes planus, Progressive gait ataxia, Pes valgus, Limited knee extension, Cyanotic episode, Global... ORPHA:33069
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Megalencephaly, ... OMIM:613603
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Tractional retinal detachment OMIM:601813
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... OMIM:301044
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Choanal atresia, Micrognathia, Postnatal growth r... ORPHA:494344
Alpha-Mannosidosis, Adult Form
Macroglossia, Subcortical cerebral atrophy, Ataxia, Cerebral cortical atrophy ORPHA:309288
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
X-Linked Intellectual Disability, Cantagrel Type
Tented upper lip vermilion, Short philtrum, Hypoplasia of the corpus callosum, Short nose, Cerebr... ORPHA:85277
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Oligodontia, High palate, Short philt... OMIM:309590
Diamond-Blackfan Anemia 8
Short stature, Wide nasal bridge, Growth delay, Short nose, Thick upper lip vermilion OMIM:612563
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... OMIM:139090
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Short stature, Micrognathia, Open bi... ORPHA:1974
Infantile Krabbe Disease
Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Cachexia, Decreased head... ORPHA:206436
Trichothiodystrophy 3, Photosensitive
Natal tooth, Meckel diverticulum, Failure to thrive, Short stature, Carious teeth, Pyloric stenos... OMIM:616395
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Leukocytosis,... ORPHA:829
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat... OMIM:600649
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Missing... ORPHA:3301
Marfan Syndrome
Skeletal muscle atrophy, Pes planus, Arachnodactyly, Dental crowding, Protrusio acetabuli, Microg... ORPHA:558
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney, Splenic cyst OMIM:618188
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Cleft soft palate, Rocker bottom foot, Micrognathia, Cutaneous fi... OMIM:606851
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala... OMIM:263650
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Intestinal malrotation, F... OMIM:619321
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Depressed nasal bridge, Short stature, Micrognathia, Underdeveloped nasal... OMIM:604173
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar... ORPHA:536471
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Anteverted nares, Prominent nasal bridge, Microcephaly, Macrocephaly, Hypoplasia of the brainstem... ORPHA:500159
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Short stature, Cachexia, Microcephaly, Ataxia, Urticaria, Cutaneous ... ORPHA:220295
Hereditary Bullous Dystrophy, Macular Type
Short stature, Tapered finger, Microcephaly, Growth delay, Short finger, Acrocyanosis ORPHA:1867
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy, Ascites OMIM:614702
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal steno... ORPHA:1790
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Loss of ambul... ORPHA:3208
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout... OMIM:601353
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... OMIM:618774
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Uret... ORPHA:79328
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Re... OMIM:266500
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Short stature, Microcephaly, Basal ganglia calcific... OMIM:225750
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Williams Syndrome
Micrognathia, Rectal prolapse, Dysmetria, Clinodactyly of the 5th finger, Microdontia, Prematurel... ORPHA:904
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, L... OMIM:619318
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Microcephaly, Focal polymicrogyria, Dysplastic cor... OMIM:619103
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Clinodactyly of the 5th finger, Short metacarpal, Scapular winging, Anteverted nares, ... OMIM:272460
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Cerebr... OMIM:618590
Mandibuloacral Dysplasia
Dental crowding, Increased subcutaneous truncal adipose tissue, Micrognathia, Abnormally large gl... ORPHA:2457
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen... OMIM:216360
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Esophageal atresia, Wide nasal bri... OMIM:614083
Mucopolysaccharidosis Type 2
Otosclerosis, Wide nose, Short stature, Recurrent upper respiratory tract infections, Temporomand... ORPHA:580
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal de... ORPHA:568
Insulin-Like Growth Factor I Deficiency
Short stature, Micrognathia, Postnatal growth retardation, Microcephaly, Decreased body weight, C... OMIM:608747
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa... OMIM:617247
Achondrogenesis Type 2
Short stature, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pi... ORPHA:93296
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Wolman Disease
Growth delay, Esophageal varix, Cachexia, Steatorrhea ORPHA:75233
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastr... ORPHA:2538
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Conical incisor, Radial deviation of t... OMIM:149730
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal large intestine morphology, Esophageal neoplasm, Clubbing of toes, Weight loss, Palmopla... ORPHA:2198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Pachygyria, Partial agen... OMIM:614643
Encephalopathy, Ethylmalonic
Death in infancy, Ataxia, Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Failure to th... OMIM:602473
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Agenesis of corpus callosum, Bifid uvula, Arachnodactyly, ... ORPHA:2461
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Antev... ORPHA:175
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p... OMIM:617140
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Atelis Syndrome 2
Pes planus, Single transverse palmar crease, Micrognathia, Prominent nose, Microcephaly, Bulbous ... OMIM:620185
Silver-Russell Syndrome Due To A Point Mutation
Relative macrocephaly, Syndactyly, Small for gestational age, Micrognathia, Postnatal growth reta... ORPHA:397590
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Clinodactyly o... OMIM:115150
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Thin upper lip vermilion, Rhizomelia, Short stature, Abnormality ... ORPHA:319182
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... OMIM:153670
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Microcephaly, Hypoplasia of... ORPHA:1422
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Cache... ORPHA:1876
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormal dental morphology, A... ORPHA:861
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short stature, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, C... ORPHA:2031
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Microphthalmia, Agenes... ORPHA:1528
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Down Syndrome
Sandal gap, Short stature, Aganglionic megacolon, Protruding tongue, Hypoplastic iliac wing, Sing... OMIM:190685
Branchioskeletogenital Syndrome
Mandibular prognathia, Amelia involving the lower limbs, Depressed nasal bridge, Unilateral cleft... ORPHA:1299
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Rectal prolapse, Short metatarsal, High palate, Short metacarpal, Depressed nasa... OMIM:617157
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas... ORPHA:116
Hydrolethalus Syndrome 1
Median cleft lip, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Preaxial ha... OMIM:236680
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal ... OMIM:105650
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Rhegmatogenous retinal detachment, Vitreous hemorrhage, Abnormal optic di... ORPHA:891
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Underdeveloped nas... OMIM:209885
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, S... ORPHA:468631
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Pes planus, Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Cubi... OMIM:601552
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Long nose, Prominent nose, Abnormal finger morphology, Short palm, Clin... ORPHA:2636
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Death in early adulthood, Hypointensity of cerebral white matter on MRI, Int... OMIM:603041
Thanatophoric Dysplasia
Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Dispropo... ORPHA:2655
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c... ORPHA:790
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... OMIM:194080
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Micrognathia, Postax... OMIM:617866
Weill-Marchesani Syndrome 2
Short metacarpal, Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia ... OMIM:608328
Osteogenesis Imperfecta, Type X
Relative macrocephaly, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromel... OMIM:613848
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Cutis marmorata, Narrow mouth, Hypoplasia of the corp... OMIM:613735
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Jacobsen Syndrome
U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Missing rib... OMIM:147791
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Micrognathia, Prominent nose, Short philtrum, Clinodactyly of th... OMIM:301022
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contra... OMIM:300166
Juvenile Huntington Disease
Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Gait ataxia, Weight loss, Abnormal cere... ORPHA:248111
X-Linked Dominant Chondrodysplasia Punctata
Depressed nasal bridge, Short stature, Lower limb asymmetry, Flexion contracture, Neonatal epiphy... ORPHA:35173
Wolcott-Rallison Syndrome
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Iron deficiency anemia, Abno... ORPHA:1667
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Recurrent upper respiratory tract infections, Cyanosis OMIM:263000
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Underdeveloped nasal al... ORPHA:894
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Short stature, Failure to ... ORPHA:1340
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90037
Cowden Syndrome
Short stature, Ataxia, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar kerat... ORPHA:201
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... OMIM:615630
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Developmental And Epileptic Encephalopathy 1
Microcephaly, Growth delay, Choreoathetosis, Microphthalmia, Global brain atrophy OMIM:308350
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ... ORPHA:740
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Smooth philtrum, Thin upper lip vermilion, Anteverted n... ORPHA:261323
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus ORPHA:2476
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Cerebellar hypoplasia, Convex nasal ridge ORPHA:207
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of th... ORPHA:261112
Coffin-Siris Syndrome
Simplified gyral pattern, Thick nasal alae, Agenesis of corpus callosum, Dandy-Walker malformatio... ORPHA:1465
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... ORPHA:39041
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Secondary microcephaly, Cerebellar hypoplasia, Neonatal death, Microphthalmia OMIM:613730
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Microdontia, Bifid uvula, ... OMIM:613458
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth retardation, Si... OMIM:614800
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Immunodeficiency 54
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Growth delay, Macroglossia, Short stature, Microcephaly ORPHA:93947
Nanophthalmos
Microphthalmia ORPHA:35612
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Missing ribs, Microcephaly, Cleft upper lip, ... ORPHA:50
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E... ORPHA:549
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Talipes, Postnatal growth retardation, Abnormal tongue morphology, Aplasia/Hypo... ORPHA:531151
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... OMIM:616580
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Talipes calcaneovalgu... ORPHA:818
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost... OMIM:134780
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... OMIM:184253
Tuberculosis
Weight loss ORPHA:3389
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, High p... OMIM:619472
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Shprintzen-Goldberg Syndrome
Pes planus, Bowing of the long bones, Failure to thrive, Arachnodactyly, Anteverted nares, Campto... ORPHA:2462
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,... OMIM:613870
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... OMIM:617402
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Microcephaly, Disproportionate short-limb short stature, Aplasia/Hypoplasia of the ce... ORPHA:2772
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... OMIM:615108
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi... ORPHA:95699
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Hypotension, Arrhythmia, ... ORPHA:188
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Frontonasal Dysplasia 3
Microphthalmia, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae OMIM:613456
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Clinodacty... ORPHA:264450
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal... ORPHA:3318
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... ORPHA:85167
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Long nose, Carious teeth, Microcephaly, Velopharyngeal insufficiency, Dental malocc... OMIM:613680
Fryns Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Large f... OMIM:229850
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr... ORPHA:85212
Vitreoretinochoroidopathy
Retinal detachment, Vitreous hemorrhage, Pigmentary retinopathy, Retinal neovascularization OMIM:193220
Fanconi Anemia, Complementation Group F
Short stature, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger synd... OMIM:603467
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Tapered f... OMIM:601088
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... ORPHA:314655
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Short stature, Micrognathia, Cariou... OMIM:616734
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Trisomy 20P
Finger syndactyly, Anteverted nares, Camptodactyly of finger, Talipes, Micrognathia, Abnormality ... ORPHA:261318
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Hyphema, Iris coloboma OMIM:221900
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Weiss-Kruszka Syndrome
Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, Single transverse palmar ... OMIM:618619
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Witteveen-Kolk Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Cortical dyspl... OMIM:613406
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper li... OMIM:109400
Diamond-Blackfan Anemia
Small for gestational age, Depressed nasal bridge, Short stature, Cleft soft palate, Micrognathia... ORPHA:124
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Failure to thrive, Cutis marmorata, Talipes, Abnormality of the... ORPHA:974
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Cerebellar hypoplasia, Type II lissencephaly, Muscular dystrophy OMIM:614830
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Hypophosphatasia, Infantile
Death in infancy, Micromelia, Bowing of the legs, Abnormality of the dentition, Stillbirth, Short... OMIM:241500
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... OMIM:122880
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Vertebral Hypersegmentation And Orofacial Anomalies
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilat... OMIM:619122
Thauvin-Robinet-Faivre Syndrome
Pes planus, Bowing of the legs, Large for gestational age, Pedal edema, Macroglossia, Large hands... OMIM:617107
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegaly, Exercise-induced myoglob... OMIM:201475
Acromelic Frontonasal Dysostosis
Preaxial polydactyly, Patellar hypoplasia, Short tibia, Cavum septum pellucidum, Agenesis of corp... OMIM:603671
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short stature, Microcephaly, Esophageal atresia, Tracheoesophageal fistul... OMIM:301030
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Microcephaly, Talipes, Postax... ORPHA:2166
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Prematurely aged appearance, Micromelia, Clubbing of ... ORPHA:1318
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... OMIM:616145
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Ataxia, Abnormal foot morphology, Anosmia, Hammertoe, ... ORPHA:773
Acromegaly
Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den... ORPHA:963
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose ORPHA:2983
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Large for gestat... ORPHA:77301
Geleophysic Dysplasia 1
Short palm, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Short foot, Joi... OMIM:231050
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Anosmia, Singl... ORPHA:2250
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Facial palsy, Furrowed tongue ORPHA:2483
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den... ORPHA:314769
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Narrow foot, High palate, Short philtrum, Death in childhood... OMIM:309500
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenes... OMIM:614576
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Alagille Syndrome 1
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Concave nasal ridge, Pro... OMIM:118450
Rodrigues Blindness
Narrow nasal bridge, Short stature, Ectodermal dysplasia, Microphthalmia, Tooth malposition OMIM:268320
Pelviscapular Dysplasia
Hypoplastic scapulae, Short femur, Short stature, Congenital hip dislocation, Hypoplastic ilia, H... ORPHA:93333
Huntington Disease
Caudate atrophy, Inability to walk, Cerebral atrophy, Abnormality of the sense of smell, Weight l... ORPHA:399
Aicardi Syndrome
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Proximal placement ... OMIM:304050
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Pr... ORPHA:90673
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... OMIM:602782
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Progeroid facial appearance, Abnormally large gl... ORPHA:435628
Exudative Vitreoretinopathy 1
Retinal detachment, Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... OMIM:615109
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdontia, Depres... ORPHA:536467
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Telangiectasia of the skin, Enlarged kidney ORPHA:276280
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, High palate, Prominent palatine ridges, Microretrognathia, Anteverted... ORPHA:280633
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme... ORPHA:555874
Mosaic Trisomy 16
Syndactyly, Small for gestational age, Single transverse palmar crease, Abnormality of the nose, ... ORPHA:1708
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Prominent nasal bridge, Microg... ORPHA:1587
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Purpura OMIM:254450
Infantile Systemic Hyalinosis
Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Abnormal d... ORPHA:2176
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplasia of the iris, Finger ... ORPHA:2092
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Focal Dermal Hypoplasia
Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteop... OMIM:305600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, High palate, Clinodactyly of ... OMIM:616975
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Microcephaly, Hypodontia... ORPHA:1236
Proteus Syndrome
Decreased muscle mass, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of... ORPHA:744
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... ORPHA:98849
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Short stature, Failure to th... ORPHA:388
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Hypoplasia of the radius, ... ORPHA:3412
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... OMIM:606003
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol... OMIM:258850
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Leukocytosis, Sple... OMIM:615895
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia, Hepatic st... OMIM:255120
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Micrognathia, Short palm, Clinodactyly of the 5th finger, Agenesis of corp... ORPHA:508498
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90033
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, M... OMIM:615873
Cholesteryl Ester Storage Disease
Hepatomegaly, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Failure to thrive, Severe short stature, Camptodactyly of finger, Micrognathia, Long nose, Promin... ORPHA:3047
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Micrognathi... OMIM:261540
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Choanal Atresia
Nasal congestion, Polydactyly, Cyanosis, Chronic sinusitis ORPHA:137914
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Holoprosencephaly
Anophthalmia, Congenital diaphragmatic hernia, Deep philtrum, Depressed nasal ridge, Absent nares... ORPHA:2162
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Vasculitis, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Nep... ORPHA:575
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Decreased muscle mass, Decreased palmar creases, Tap... ORPHA:2953
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia ORPHA:99745
Aspartylglucosaminuria
Depressed nasal bridge, Anteverted nares, Short stature, Microcephaly, Hypoplastic frontal sinuse... OMIM:208400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Prominent nose, Micrognathia, Widely spac... OMIM:612474
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... ORPHA:480520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy, Hypoplasia of the brainstem,... OMIM:615181
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short stature, Short foot, Cone-shaped epiphysis, Tip-toe gait, Short p... OMIM:614185
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Velocardiofacial Syndrome
Short stature, Talipes, Abnormality of the hand, Microcephaly, Underdeveloped nasal alae, Bulbous... OMIM:192430
Breath-Holding Spells
Cyanosis OMIM:607578
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bon... ORPHA:1508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microcephaly, Flexion contracture, Hypoplasia of the brainstem, Progressi... OMIM:615249
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic live... ORPHA:540
Jacobsen Syndrome
Pachygyria, Agenesis of corpus callosum, Broad columella, Long hallux, Long philtrum, Abnormality... ORPHA:2308
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Cerebe... ORPHA:284169
Al Amyloidosis
Xerostomia, Weight loss, Macroglossia, Abnormal salivary gland morphology, Bruising susceptibility ORPHA:85443
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Joubert Syndrome 2
Agenesis of cerebellar vermis, Depressed nasal bridge, Ataxia, Abnormal foot morphology, Postaxia... OMIM:608091
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Ataxia, Acrocyanosis, Failure to thrive, Petechiae ORPHA:51188
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Idiopathic Achalasia
Weight loss ORPHA:930
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, H... OMIM:600092
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Bowing of the legs, Metaphyseal widening, Disproportionate short stature, F... ORPHA:93352
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut malrotati... ORPHA:2326
Desmoplastic Small Round Cell Tumor
Ileus, Cachexia, Weight loss ORPHA:83469
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Short stature, Tented upper lip vermilion, Postaxial polydactyly, M... OMIM:618460
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Thanatophoric Dysplasia Type 2
Short stature, Depressed nasal bridge, Micromelia, Macrocephaly, Abnormal metaphysis morphology, ... ORPHA:93274
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Muscle fiber at... OMIM:182250
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Short stature, Choanal atresia, Microcephaly, Esophageal atresia, Submucous cleft hard... OMIM:619227
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal... ORPHA:809
Restrictive Dermopathy 1
Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,... OMIM:275210
Undifferentiated Pleomorphic Sarcoma
Abnormality of the lower limb, Abnormality of the upper limb, Weight loss ORPHA:2023
Nanophthalmos 4
Microphthalmia OMIM:615972
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocardit... ORPHA:292
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru... OMIM:601499
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Uveal Melanoma
Retinal detachment, Vitreous hemorrhage ORPHA:39044
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Co... ORPHA:465508
Felty Syndrome
Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, L... ORPHA:47612
Kapur-Toriello Syndrome
Failure to thrive, Intestinal malrotation, Dysplastic corpus callosum, Bulbous nose, Orofacial cl... ORPHA:2328
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Clubbing, Neonatal death, Failure to thrive OMIM:265120
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Microcephaly, Postaxial hand polydactyly, Wide na... OMIM:607330
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Cerebellar hypoplasia, Microphth... OMIM:218670
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mo... OMIM:154500
Gapo Syndrome
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Wide... OMIM:230740
Whipple Disease
Myositis, Ataxia, Cachexia, Malabsorption, Pedal edema ORPHA:3452
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Microcephaly OMIM:250800
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Large for gestational age, Obesity, High palate, Biparietal narrowing, Lo... OMIM:605309
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... OMIM:232300
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Wide nose, Short stature, Aplasia/Hypoplasia of the cerebellum, Stomach can... ORPHA:1052
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Short nose, Micrognathia OMIM:266810
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Distal Deletion 15Q
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous... ORPHA:1596
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Micrognathia ORPHA:1129
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micronodular cirrhosis, Punctate va... OMIM:192315
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum,... ORPHA:3455
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... ORPHA:228308
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choanal stenosis, Bif... OMIM:620186
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Foot p... ORPHA:268249
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Macrophage Activation Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Meckel Syndrome
Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Talipes, Micrognathia, ... ORPHA:564
Oromandibular Dystonia
Torticollis, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnormal mandib... ORPHA:93958
Cadds
Intrauterine growth retardation, Short nose, Abnormal cerebral white matter morphology, Micrognathia ORPHA:369942
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Skeletal muscle atrophy, Cyanosis, Ataxia, Microcephaly, Ragged-red muscle fibe... OMIM:252010
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegal... OMIM:158350
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Multifocal hyperintensity of cerebral white matter on MRI, Facial hypotonia, Macroglossia, Left v... ORPHA:308552
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Broad-based gait, Poor wound healing, Cachexia, ... ORPHA:2072
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Ctcf-Related Neurodevelopmental Disorder
Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Microdontia... ORPHA:363611
Camptodactyly Syndrome, Guadalajara Type 3
Sternocleidomastoid amyotrophy, Broad nasal tip, Thickened cortex of long bones, Small hand, Depr... ORPHA:488434
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Failure to thrive, Abnormal oral mucosa morphology, Micromelia, Abnorm... ORPHA:289
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Broad-based gait, Failure to thrive in infancy, Cerebellar hypoplasia OMIM:618805
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... ORPHA:93325
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Abnormal dental enamel ... ORPHA:464
Distal Deletion 9P
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, B... ORPHA:1642
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Absent septum pellucidum, Single transverse palmar cre... OMIM:613884
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... OMIM:619503
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Ivic Syndrome
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... ORPHA:2307
Arterial Tortuosity Syndrome
Long palm, Telangiectasia of the skin, Prematurely aged appearance, Arachnodactyly, Rocker bottom... ORPHA:3342
Scrub Typhus
Abnormal bleeding, Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension ORPHA:83317
Meckel Syndrome, Type 1
Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Dandy-Walker malformation, Syndactyl... OMIM:249000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Calcinosis, Dental crowding, Acroosteolysis of distal phalan... OMIM:248370
Dermotrichic Syndrome
Aganglionic megacolon, Short nose, Depressed nasal bridge, Proportionate short stature ORPHA:99688
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Cerebrofaciothoracic Dysplasia
Wide nose, Cerebellar vermis hypoplasia, Short stature, Cleft upper lip, Cleft palate, Wide mouth... ORPHA:1394
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Spondylo-Ocular Syndrome
Pes planus, Aplasia/Hypoplasia of the lens, Short stature, Facial hypotonia, Disproportionate sho... ORPHA:85194
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Anal atresia, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Micrognathia, Microcephaly, ... OMIM:236670
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb,... OMIM:270400
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Nasal polyposis, Cutis marmorata, Intestinal obstruction, Malabsorption, Wei... ORPHA:183
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Bent Bone Dysplasia Syndrome 2
Relative macrocephaly, Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Hypopl... OMIM:620076
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Esophageal Atresia
Barrett esophagus, Cyanosis, Choanal atresia, Intestinal malrotation, Small for gestational age, ... ORPHA:1199
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... OMIM:608203
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath... ORPHA:3386
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm... OMIM:214500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneo... ORPHA:261537
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... OMIM:614921
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Deeah Syndrome
Death in infancy, Decreased body weight, Overlapping fingers, Short stature, Malabsorption, Narro... OMIM:619004
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart ... ORPHA:565612
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cyanosis, Left ventricular hypertrophy, Failure to t... ORPHA:444013
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormality of the tongue, Weight loss, Tip-toe gait, Gait disturbance, Eye of... ORPHA:216866
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Short stature, Bowing o... ORPHA:1855
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Absent septum pellucidum, Aganglionic megacolon, Macrocephaly, Growth delay, Sh... ORPHA:3339
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ... ORPHA:36412
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... ORPHA:71493
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Elbow contracture, Ulnar deviation of the wrist, 2-3 toe syndactyl... OMIM:618162
Fanconi Anemia, Complementation Group E
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly,... OMIM:600901
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... OMIM:619314
Candidiasis, Familial, 8
Macroglossia, Cheilitis OMIM:615527
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Weight loss, Growth delay, Inflammati... OMIM:266600
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... OMIM:617914
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Microd... ORPHA:2044
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Wrinkly Skin Syndrome
Decreased muscle mass, Cerebellar vermis hypoplasia, Congenital hip dislocation, Excessive skin w... ORPHA:2834
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Macular Degeneration, Age-Related, 1
Geographic atrophy, Macular degeneration, Macular hemorrhage OMIM:603075
Aymé-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Short stature, Tapered fing... ORPHA:1272
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Micrognathia, Absent radius, Rectal fistula... OMIM:115470
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Hypo... ORPHA:1101
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Megalencepha... OMIM:601707
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge... OMIM:613812
Cog1-Cdg
Smooth philtrum, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Rhizomelia, Coxa valga, ... ORPHA:263508
Huntington Disease-Like 1
Dysmetria, Abnormal basal ganglia morphology, Abnormal shoulder morphology, Weight loss, Gait ata... ORPHA:157941
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Subm... OMIM:301043
Sézary Syndrome
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Inability to walk, Flexion con... ORPHA:365
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Single interphalangeal crease of fifth finger, Dias... OMIM:257920
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... ORPHA:3044
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Mowat-Wilson Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneo... ORPHA:2152
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Microphthalmia, Syndromic 6
Anophthalmia, Single transverse palmar crease, Micrognathia, High palate, Clinodactyly of the 5th... OMIM:607932
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Agenesis of corpus callosum, Ataxia OMIM:207950
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Depressed nasal bridge, Tapered finger, Micrognathia, Microcephaly, Small hand,... OMIM:620005
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaund... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Depressed nasal bridge, Microphthalmia, Failure to thrive, Polymicr... OMIM:612379
Fanconi Anemia, Complementation Group A
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly,... OMIM:227650
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Isolated Childhood Apraxia Of Speech
High, narrow palate, Caudate atrophy, Submucous cleft hard palate, Abnormal caudate nucleus morph... ORPHA:209908
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ... OMIM:617713
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splen... OMIM:615688
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Short stature, Congenital hip dislocation, Hypoplastic ilia, Hypoplastic ac... OMIM:169550
Fanconi Anemia, Complementation Group C
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly,... OMIM:227645
Pallister-Hall Syndrome
Large for gestational age, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polyd... ORPHA:672
Mandibuloacral Dysplasia Progeroid Syndrome
Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short philtrum, Deat... OMIM:619127
Congenital Heart Block
Intrauterine growth retardation, Cyanosis ORPHA:60041
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose, Bruising susceptibility, Short distal ph... OMIM:277450
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Weight loss ORPHA:1302
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Growth delay, Thick vermilion border, H... OMIM:252160
Osteogenesis Imperfecta
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol... ORPHA:666
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Chops Syndrome
Anteverted nares, Short stature, Microcephaly, High, narrow palate, Obesity, Downturned corners o... OMIM:616368
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Ataxia, Erythema, Urticaria, Growth delay, Recurrent aphthous stomatitis,... ORPHA:343
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar... ORPHA:508488
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T... ORPHA:781
Peters Plus Syndrome
Micromelia, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Intestinal fistula... ORPHA:709
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252900
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Renal neutrophilic tubulitis... ORPHA:91500
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Aplastic clavicle, Micromelia, Postaxial po... OMIM:616546
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Necrotizing Enterocolitis
Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropeni... ORPHA:391673
Genetic Transient Congenital Hypothyroidism
Macroglossia, Prolonged neonatal jaundice ORPHA:226316
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Coffin-Siris Syndrome 12
Micrognathia, Hippocampal atrophy, High palate, Depressed nasal bridge, Anteverted nares, Short s... OMIM:619325
Wilson Disease
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Cirrhosis, Acute hepatitis, Br... ORPHA:905
Osteosarcoma
Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi... ORPHA:668
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ... ORPHA:85165
Tricuspid Atresia
Cyanosis ORPHA:1209
Asbestos Intoxication
Hypoxemia, Clubbing of fingers, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduri... OMIM:619259
Osteogenesis Imperfecta, Type Vii
Death in infancy, Crumpled long bones, Rhizomelia, Short stature, Micromelia, Bowing of the legs,... OMIM:610682
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Simplified gyral pattern, Downturned corners of mouth, Cerebellar hemi... ORPHA:500150
Pterygium Colli, Isolated
Short nose OMIM:177990
Degcags Syndrome
Prominent nose, Micrognathia, Premature graying of hair, High palate, Diaphragmatic eventration, ... OMIM:619488
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepa... OMIM:260920
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Norrie Disease
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Cachexia, Microcephaly, Hypoplasia of the ir... ORPHA:649
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Clubbing, Weight loss ORPHA:747
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... ORPHA:84064
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... OMIM:129900
Bloom Syndrome
Syndactyly, Small for gestational age, Prominent nose, Postnatal growth retardation, Microcephaly... OMIM:210900
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneo... ORPHA:261552
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Cranioectodermal Dysplasia 2
Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Microdontia, S... OMIM:613610
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Microcephaly, Cleft upper lip, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:264480
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... ORPHA:2673
Fanconi Anemia, Complementation Group D2
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Preaxial hand... OMIM:227646
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... ORPHA:238468
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis, Weight loss ORPHA:3165
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Obesity, Wide mouth, Macrocephaly, Short nose ORPHA:293948
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palat... OMIM:603457
Charge Syndrome
Anophthalmia, Abnormal tibia morphology, Aplasia/Hypoplasia of the cerebellum, Clinodactyly of th... ORPHA:138
Celiac Disease, Susceptibility To, 1
Cerebral calcification, Short stature, Ataxia, Postnatal growth retardation, Celiac disease, Stea... OMIM:212750
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Pes planus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Recurrent patellar disloc... OMIM:615877
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... ORPHA:2729
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont... ORPHA:2020
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... ORPHA:2137
Thyroid Ectopia
Growth delay, Macroglossia, Jaundice, Short stature ORPHA:95712
Menke-Hennekam Syndrome 1
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ... OMIM:618332
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chroni... OMIM:249100
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly ORPHA:77299
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Cyanosis, Clubbing, Hypoxemia, Neonatal death, Failure to thrive OMIM:610921
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... ORPHA:2363
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... OMIM:616843
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Absent septum pellucidum, Small for gestational age, Microcephaly, Growth... OMIM:618500
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Cockayne Syndrome Type 3
Hepatomegaly, Optic disc pallor, Retinal atrophy, Renal insufficiency, Neurogenic bladder, Unilat... ORPHA:90324
Primrose Syndrome
Skeletal muscle atrophy, Cerebral calcification, Hypoplasia of the maxilla, Flexion contracture, ... OMIM:259050
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Malabsorption, Erythema, Abnormality of the tongue, Cheilitis, ... ORPHA:37
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... ORPHA:293173
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Disproportionate short sta... ORPHA:93317
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Short stature, Small for gestational age, Ataxia, Wide mouth, High palate... OMIM:300661
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Urticaria, Col... ORPHA:37042
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Mild p... ORPHA:85408
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red ce... OMIM:613179
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... OMIM:177850
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphad... OMIM:603553
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy... OMIM:300842
Fraser Syndrome
Cleft ala nasi, Anophthalmia, Dental crowding, Orofacial cleft, High palate, Finger syndactyly, D... ORPHA:2052
Oculopalatocerebral Syndrome
Microphthalmia, Short stature, Cleft palate, Microcephaly OMIM:257910
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Hallux valgus, Depressed nasal bridg... OMIM:614188
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Deviated nasal se... OMIM:123500
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Myocarditis, Cervical lymphadenopathy, Vasculitis, Thr... ORPHA:50918
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Left ventric... ORPHA:79330
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Broad-based gait, Cerebellar vermis hypoplasia, ... OMIM:620330
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Prolonged pr... OMIM:267700
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Prematu... OMIM:113620
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Pyknoachondrogenesis
Craniofacial hyperostosis, Micromelia, Short iliac bones, Depressed nasal ridge, Abnormal iliac w... ORPHA:3003
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Familial Drusen
Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular... ORPHA:75376
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Prea... OMIM:263520
Dyskeratosis Congenita
Cerebral calcification, Telangiectasia of the skin, Short stature, Esophageal stenosis, Abnormali... ORPHA:1775
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Short stature, Talipes, Microcephaly, Submucous cleft hard palate, Bifid u... OMIM:617660
Central Retinal Vein Occlusion
Papilledema, Intraretinal hemorrhage, Macular degeneration, Pigmentary retinopathy, Retinal neova... ORPHA:411527
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Congenital diaphragmatic he... OMIM:614437
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Choanal atresia, Probosc... ORPHA:141099
Ablepharon Macrostomia Syndrome
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped... ORPHA:920
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... ORPHA:534
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... OMIM:619522
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Leukemia OMIM:180200
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Neuroocular Syndrome
Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Downturned corners of mo... OMIM:619539
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Micr... ORPHA:77298
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f... OMIM:618641
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Clubbing, Telangiectasia, Hypoxemia, Ischemic stroke ORPHA:2038
Stüve-Wiedemann Syndrome
Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Abnormality of the ... ORPHA:3206
Tetraamelia Syndrome 1
Anal atresia, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Cleft upper lip, Si... OMIM:273395
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Single transverse palmar crease, High, narrow palate, Short philtrum, High palate, Decreased body... OMIM:619475
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Abnormal tibia morphology, Upper limb asymmetry, Shoulder girdl... ORPHA:64755
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... ORPHA:1454
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Toe syndactyly, Hypoplastic sacrum, Choanal atresia, Absence of ... OMIM:604292
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Ataxia, Microcephaly, Cerebral atrophy, Death in childhood, Failure t... OMIM:618426
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Pachygyria, ... OMIM:607872
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Dend Syndrome
Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho... ORPHA:79134
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Dental crowding, Cutaneous finger ... OMIM:219000
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Microsporidiosis
Myositis, Sinusitis, Cachexia, Weight loss, Rhinitis, Glossitis ORPHA:2552
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... OMIM:619426
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Buerger Disease
Acrocyanosis ORPHA:36258
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Corneal neovasculariz... OMIM:617388
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Thin upper lip vermilion, Toe syndactyly, Short stature, Bulbous nose, Hypoplasia of the radius, ... ORPHA:140952
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Structural foot deformity, Hypoplasia of the brainstem, Clinodactyly... ORPHA:464306
Chédiak-Higashi Syndrome
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Abnormality of retinal pigmentati... ORPHA:167
Distal Deletion 19P
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum ORPHA:96129
Xeroderma Pigmentosum, Complementation Group B
Short stature, Ataxia, Progeroid facial appearance, Microcephaly, Basal ganglia calcification, Mi... OMIM:610651
Slc39A8-Cdg
Short stature, Failure to thrive in infancy, Inability to walk, Elbow flexion contracture, Knee f... ORPHA:468699
X-Linked Agammaglobulinemia
Sinusitis, Short stature, Malabsorption, Weight loss, Glossoptosis, Failure to thrive ORPHA:47
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Short palm, Agenesis of corpus callosum, Dandy-Walker malformation, Lon... ORPHA:93271
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Huntington Disease-Like 2
Cerebral cortical atrophy, Weight loss OMIM:606438
Tolchin-Le Caignec Syndrome
Arachnodactyly, Diastasis recti, Micrognathia, Prominent nose, Submucous cleft hard palate, Wide ... OMIM:618971
Ollier Disease
Abnormal metaphysis morphology, Micromelia ORPHA:296
Rift Valley Fever
Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena... ORPHA:319251
Microphthalmia With Linear Skin Defects Syndrome
Wide nose, Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Absent septum p... ORPHA:2556
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Progressive flexion contractures, Ataxia, Equinus calcaneus, 2-3 toe sy... ORPHA:522077
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Overlapping toe, Microcephaly, Partial agenesis of the corpus callosum OMIM:617478
Trichothiodystrophy
Multiple joint contractures, Prematurely aged appearance, Cerebral dysmyelination, Hypoplasia of ... ORPHA:33364
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
22Q11.2 Deletion Syndrome
Micrognathia, Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Short stature, W... ORPHA:567
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... OMIM:210250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Weight loss, Inflammation of t... ORPHA:324964
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Orofacial cleft, Thin ve... ORPHA:1519
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Shigellosis
Abscess, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritonitis, Urethritis, Cholestas... ORPHA:810
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Pes planus, Cleft soft palate, Myopathy, Talipes equinova... OMIM:614557
Chronic Pneumonitis Of Infancy
Hypoxemia, Failure to thrive, Cyanosis ORPHA:91359
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft ha... OMIM:157170
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Clubbing OMIM:610910
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Vater/Vacterl Association
Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Postnat... OMIM:192350
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto... ORPHA:67
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... ORPHA:3260
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Anophthalmia, Short stature, Severe short stature, Congenital diaphrag... OMIM:601186
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... OMIM:619991
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsorption, Oro... ORPHA:92050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebral calcification, Increased variability in muscle fiber diame... OMIM:616538
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma... ORPHA:1572
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Meconium ileus, Knee flexion contracture, Difficulty walking, Hyperintensity of cerebra... OMIM:617239
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy... OMIM:222700
Mucolipidosis Type Ii
Hip contracture, Short stature, Depressed nasal bridge, Diastasis recti, Limited wrist movement, ... ORPHA:576
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Missing ribs, Postnatal... OMIM:206900
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Diastasis recti, Intestinal malrotat... OMIM:601776
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Lysosomal Acid Lipase Deficiency
Cachexia, Jaundice, Esophageal varix, Weight loss, Steatorrhea, Failure to thrive ORPHA:275761
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem... ORPHA:90041
Reticular Dysgenesis
Failure to thrive, Weight loss, Malabsorption ORPHA:33355
Brucellosis
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymphadenopathy,... ORPHA:1304
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Microphthalmia, Short stature, Abnormality of the dentition ORPHA:1806
Deafness, X-Linked 7
Unilateral microphthalmos, Wide nasal bridge OMIM:301018
Kenny-Caffey Syndrome, Type 2
Severe short stature, Short stature, Small for gestational age, Basal ganglia calcification, Macr... OMIM:127000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... OMIM:617099
Urachal Cyst
Abdominal mass, Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Urachus fistula, Hematuria ORPHA:488
Laryngotracheal Angioma
Cyanosis ORPHA:137935
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... ORPHA:980
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Broad-based gait, Intestinal pseudo-obstruction, Ataxi... OMIM:607459
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Depressed nasal bridge, Anteverted nares, Short stature, Celiac disease, Recurrent uppe... ORPHA:293987
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Colchicine Poisoning
Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Oliguria, ... ORPHA:31824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Pachygyria, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, H... OMIM:253280
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Congestive heart failu... OMIM:615512
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Microcephaly ORPHA:159
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Hepatospleno... OMIM:608233
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... ORPHA:3016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Agyria, Hypoplasia of the pyramidal tract, Flexion contracture, Calf mus... OMIM:253800
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Absent septum pellucidum, Ileal atresia, ... OMIM:618820
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... ORPHA:199302
Cleft Soft Palate
Cleft soft palate OMIM:119570
Microphthalmia, Syndromic 5
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia OMIM:610125
Phacoanaphylactic Uveitis
Tractional retinal detachment, Hyphema, Retinal arteritis ORPHA:209959
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... ORPHA:268
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Ataxia, Microcephaly, Erythema, Telangiectasia, Weigh... ORPHA:420741
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Granulomatosis With Polyangiitis
Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Short stature, Microcephaly, Conical tooth, E... OMIM:308300
Molybdenum Cofactor Deficiency, Complementation Group A
Microcephaly, Cerebral atrophy, Growth delay, Thick vermilion border, Hypoplasia of the corpus ca... OMIM:252150
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Adams-Oliver Syndrome 1
Toe syndactyly, Cutis marmorata, Microcephaly, Cleft upper lip, Cortical dysplasia, Cleft palate,... OMIM:100300
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Congestive heart failure... ORPHA:2331
Glossopharyngeal Neuralgia
Weight loss, Mandibular pain, Abnormal palate morphology, Tongue pain ORPHA:221098
Familial Mediterranean Fever
Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Lymphade... ORPHA:342
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Duodenal stenosis, Microphthalmia, Failure to thri... ORPHA:2470
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, Lymphadenopathy, Abnormal myoc... ORPHA:32960
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Clubbing, Weight loss ORPHA:79127
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cholest... OMIM:300972
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... OMIM:607625
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Cerebral atrophy OMIM:261680
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomega... ORPHA:14
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Anal stenosis, Hypoplasia of the maxilla, Wide nasal br... OMIM:180500
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Ren... OMIM:617913
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Renal insufficiency, Sudden cardiac death ORPHA:764
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Microcephaly, Telangiectasia, Choreoathetosis, Microphthalmia, Cutaneous photosensitivity OMIM:278730
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Failure to thrive, Cyanosis, Clubbing OMIM:610913
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... OMIM:609049
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Supraven... ORPHA:99829
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telang... OMIM:613471
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Macular atrophy, Microvesicular hepati... OMIM:619418
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Lymphedema-Distichiasis Syndrome
Microphthalmia, Cleft palate, Cleft upper lip, Micrognathia OMIM:153400
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia OMIM:239200
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Failure to thrive, Agenesis of corpus callosum, Delayed eruption of primary teeth OMIM:300952
Mowat-Wilson Syndrome
Prominent nasal tip, Delayed eruption of teeth, Short stature, Aganglionic megacolon, Microcephal... OMIM:235730
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Single transverse palmar crease OMIM:619053
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Cutaneous photosensitivity, Palmoplantar keratoderma ORPHA:312
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl... OMIM:617666
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... ORPHA:171
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Hypercapnia, Ataxia, Weight loss, Abnormal cerebral white matt... OMIM:164310
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Prolon... ORPHA:30391
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Clubbing of fingers, Cyanosis, Pedal edema ORPHA:199241
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Acrocyanosis, Weight loss ORPHA:2905
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Obesity ORPHA:363741
Encephalocraniocutaneous Lipomatosis
Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Cerebellar hypoplasia, Hypoplasia... OMIM:613001
Pemphigus Vulgaris
Urticaria, Weight loss, Abnormal oral cavity morphology ORPHA:704
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Obesity OMIM:601794
Aicardi-Goutières Syndrome
Myositis, Cerebral calcification, Cutis marmorata, Short stature, Multiple joint contractures, Mi... ORPHA:51
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Clubbing of toes, Clubbing of fingers, Left ventricular hypertrophy, Failure to thrive ORPHA:99106
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Weight loss, Digital flexor tenosynovitis, Interphalan... OMIM:180300
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate, Depressed nasal bridge, Wide nasal bridge OMIM:110100
Bohring-Opitz Syndrome
Retinal atrophy, Nephroblastoma, Cardiomegaly, Optic atrophy, Coloboma, Abnormal cardiac septum m... ORPHA:97297
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha... OMIM:248450
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Wrist sw... OMIM:309000
Pseudomyxoma Peritonei
Intestinal obstruction, Weight loss, Inflammation of the large intestine ORPHA:26790
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Gastritis, Facial palsy, Cerebral edema ORPHA:31826
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Peroxisome Biogenesis Disorder 4B
Ataxia, Single transverse palmar crease, Gait disturbance, Macrocephaly, Short nose OMIM:614863
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Williams-Beuren Syndrome
Rectal prolapse, Flexion contracture, Premature graying of hair, Microdontia, Clinodactyly of the... OMIM:194050
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Single tr... OMIM:309801
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia ORPHA:2717
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly OMIM:620306
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Genu recurvatum, Porencephalic cyst, Aplasia/Hypoplasia of the corpus cal... ORPHA:2612
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Avascular necrosis of the capital femoral epiphysis, ... OMIM:619377
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Classical Ehlers-Danlos Syndrome
Pes planus, Abnormality of the temporomandibular joint, Prematurely aged appearance, Phalangeal d... ORPHA:287
Pulmonary Alveolar Microlithiasis
Cyanosis, Weight loss, Hypoxemia, Clubbing of fingers, Stippled calcification in carpal bones, Ox... ORPHA:60025
Primary Hyperoxaluria
Failure to thrive, Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental... ORPHA:416
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Long fibula, Biparietal narrowing, Abnormal metaphysis morp... ORPHA:935
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ... OMIM:606721
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... OMIM:619487
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Hereditary Late-Onset Parkinson Disease
Akinesia, Weight loss, Shuffling gait, Hyposmia, Lewy bodies, Cerebral cortical atrophy, Hypomimi... ORPHA:411602
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Gerstmann-Straussler Disease
Neurofibrillary tangles, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia, Lower limb muscle... OMIM:137440
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Holocarboxylase Synthetase Deficiency
Growth delay, Ataxia, Weight loss ORPHA:79242
Pleural Mesothelioma
Weight loss ORPHA:50251
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Macroglossia OMIM:218700
Holoprosencephaly 1
Short stature, Proboscis, Microcephaly, Aplasia of the nose, Cerebellar hypoplasia, Microphthalmi... OMIM:236100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Eosinophilic Gastroenteritis
Allergic rhinitis, Malabsorption, Weight loss, Protein-losing enteropathy, Steatorrhea ORPHA:2070
Bullous Pemphigoid
Urticaria, Erythema, Weight loss ORPHA:703
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Severe short stature, Microcephaly, Wide nasal bridge,... ORPHA:2526
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Townes-Brocks Syndrome
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Agenesis of corpus c... ORPHA:857
Focal Myositis
Myositis, Weight loss ORPHA:48918
Non-Functioning Paraganglioma
Weight loss, Flushing ORPHA:94080
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... OMIM:309800
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... ORPHA:29073
Lynch Syndrome
Intestinal polyposis, Death in infancy, Death in early adulthood, Malabsorption, Flexion contract... ORPHA:144
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Failure to thrive in infancy, Proportiona... ORPHA:171876
Polyarteritis Nodosa
Erythema, Cutis marmorata, Weight loss ORPHA:767
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss ORPHA:65682
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria ORPHA:268943
Perry Syndrome
Short stepped shuffling gait, Akinesia, Weight loss OMIM:168605
Giant Cell Arteritis
Ataxia, Epistaxis, Recurrent pharyngitis, Weight loss, Glossitis ORPHA:397
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Multiple... ORPHA:1662
Malignant Peritoneal Mesothelioma
Ileus, Pedal edema, Weight loss ORPHA:168811
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Pericardial ... ORPHA:51608
Noonan Syndrome 3
Hypoplastic nasal bridge, Short stature, Anteverted nares, High palate, Short nose, Bruising susc... OMIM:609942
Yao Syndrome
Xerostomia, Oral ulcer, Weight loss OMIM:617321
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Colo... OMIM:619534
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... OMIM:245600
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Pes planus, Depressed nasal bridge, Short stature, Small for gestational age, Microceph... OMIM:613355
Idiopathic Chronic Eosinophilic Pneumonia
Hypoxemia, Generalized abnormality of skin, Weight loss ORPHA:2902
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Congenital Tracheomalacia
Cyanosis, Esophageal atresia, Recurrent upper respiratory tract infections, Tracheoesophageal fis... ORPHA:95430
Familial Dysautonomia
Growth delay, Acrocyanosis, Ataxia, Gait disturbance ORPHA:1764
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Acrocyanosis, Hypogeusia OMIM:223900
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Rhabdoid Tumor
Weight loss ORPHA:69077
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Long philtrum OMIM:615145
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Lip telangiectasia, Tong... OMIM:610655
Takayasu Arteritis
Weight loss ORPHA:3287
Fatal Familial Insomnia
Cerebral cortex with spongiform changes, Ataxia, Weight loss OMIM:600072
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Anaplastic Thyroid Carcinoma
Weight loss, Tracheoesophageal fistula, Abnormal skeletal muscle morphology ORPHA:142
Polymyositis
Weight loss, Gait disturbance, Abnormal muscle fiber morphology ORPHA:732
Craniofacial Microsomia 1
Anophthalmia, Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxilla, Cleft up... OMIM:164210
Perry Syndrome
Weight loss ORPHA:178509
Kaposi Sarcoma
Abnormality of the lower limb, Weight loss ORPHA:33276
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Weight loss ORPHA:103910
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hy... ORPHA:77293
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... OMIM:181000
Ménétrier Disease
Abnormal gastric mucosa morphology, Multiple gastric polyps, Weight loss, Stomach cancer, Giant h... ORPHA:2494
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Microcephaly, Jaundice, Leukoencephalopathy, Weight loss ORPHA:20
Imerslund-Gräsbeck Syndrome
Failure to thrive, Glossitis, Angular cheilitis, Weight loss ORPHA:35858
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Epistaxis, Malabsorption, Weight loss, Bruising susceptibility ORPHA:79430
Diffuse Alveolar Hemorrhage
Hypoxemia, Weight loss ORPHA:90060
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Weight loss OMIM:188580
Nephroblastoma
Aniridia, Weight loss ORPHA:654
Refractory Celiac Disease
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis ORPHA:398063
Familial Colorectal Cancer Type X
Malabsorption, Flexion contracture, Weight loss, Neoplasm of the rectum, Gait disturbance, Neopla... ORPHA:440437
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation OMIM:616749
Choreoacanthocytosis
Caudate atrophy, Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Abno... ORPHA:2388
Thymic Carcinoma
Weight loss ORPHA:99868
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Ataxia, Jaundice, Pedal edema, Abnormal skeletal muscle morpholo... ORPHA:284
Chronic Beryllium Disease
Weight loss ORPHA:133
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal obstruction, Intestinal perforation, Weight loss, Myopathy, Petechiae, Purpura ORPHA:85450
Criss-Cross Heart
Cyanosis ORPHA:1461
Aicardi-Goutieres Syndrome 7
Intracerebral periventricular calcifications, Atrophic gastritis, Microcephaly, Basal ganglia cal... OMIM:615846
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Igg4-Related Aortitis
Intestinal obstruction, Weight loss ORPHA:449400
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Lower limb muscle weakness, Torticollis, Weight loss ORPHA:370348
Primary Intestinal Lymphangiectasia
Growth delay, Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Weight loss ORPHA:90362
Wild Type Attr Amyloidosis
Pedal edema, Weight loss ORPHA:330001
Malignant Atrophic Papulosis
Intestinal fistula, Telangiectasia of the skin, Intestinal perforation, Weight loss, Ischemic stroke ORPHA:679
Pneumocystosis
Hypoxemia, Weight loss ORPHA:723
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cystic Echinococcosis
Urticaria, Jaundice, Abnormality of the diaphragm, Weight loss ORPHA:400
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Weight loss, Downturned corners of mouth, Lower-limb joint contracture, Intrauterine grow... ORPHA:99885
Hypermobile Ehlers-Danlos Syndrome
Pes planus, Abnormality of the dentition, Malabsorption, Abnormal foot morphology, Abnormality of... ORPHA:285
Cystinosis, Nephropathic
Skeletal muscle atrophy, Cerebral calcification, Short stature, Failure to thrive in infancy, Met... OMIM:219800
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Dermatomyositis
Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Weight loss, Acrocyanosis, I... ORPHA:221
Bronchial Neuroendocrine Tumor
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss ORPHA:97287
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Erdheim-Chester Disease
Abnormal metaphysis morphology, Ataxia, Abnormal epiphysis morphology, Weight loss ORPHA:35687
Immunodeficiency 31C
Skeletal muscle atrophy, Villous atrophy, Short stature, Weight loss, Growth delay, Protein-losin... OMIM:614162
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Weight loss OMIM:605543
Liposarcoma
Weight loss ORPHA:69078
Juvenile Dermatomyositis
Calcinosis, Myositis, Telangiectasia of the skin, Erythema, Weight loss, Cutaneous photosensitivi... ORPHA:93672
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Weight loss ORPHA:97289
Congenital Tracheal Stenosis
Cyanosis, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diver... ORPHA:141127
Papillorenal Syndrome
Microphthalmia, Short stature OMIM:120330
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Weight loss, Ischemic stroke, Vasculitis in the skin, Acrocyan... ORPHA:48435
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Granulomatosis With Polyangiitis
Intestinal obstruction, Sinusitis, Epistaxis, Abnormality of the nose, Weight loss, Abnormal oral... ORPHA:900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Flushing ORPHA:276621
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Weight loss, Flushing ORPHA:29072
Nodular Non-Suppurative Panniculitis
Erythema, Weight loss ORPHA:33577
Beta-Ketothiolase Deficiency
Ataxia, Weight loss ORPHA:134
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Facial telangiectasia, Intermittent jaundice ORPHA:100085
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pedal edema ORPHA:99103
Phace Association
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation OMIM:606519
Glucagonoma
Intestinal obstruction, Necrolytic migratory erythema, Intermittent jaundice, Weight loss, Steato... ORPHA:97280
Simple Cryoglobulinemia
Weight loss, Cold urticaria, Vascular skin abnormality, Purpura ORPHA:91139
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Thymoma
Myositis, Ulcerative colitis, Weight loss ORPHA:99867
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... ORPHA:42775
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Cyanosis ORPHA:99050
Neuroendocrine Tumor Of The Colon
Facial telangiectasia, Weight loss ORPHA:100080
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Trichinellosis
Retinal hemorrhage ORPHA:863
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Esophageal neoplasm, Weight loss, Failure to thrive, Abnormal esophagus morp... ORPHA:1018
Late-Onset Isolated Acth Deficiency
Celiac disease, Failure to thrive, Weight loss ORPHA:199299
Eisenmenger Syndrome
Hypoxemia, Cyanosis, Clubbing, Pedal edema ORPHA:97214
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Neuroendocrine Tumor Of The Rectum
Facial telangiectasia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Facial telangiectasia, Weight loss ORPHA:100082
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, Abnormal s... ORPHA:2298
Familial Pancreatic Carcinoma
Jaundice, Colon cancer, Intestinal pseudo-obstruction, Weight loss ORPHA:1333
Toxic Epidermal Necrolysis
Malabsorption, Intestinal perforation, Erythema, Tracheoesophageal fistula, Weight loss ORPHA:537
Neuroendocrine Tumor Of Stomach
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss ORPHA:100075
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis, Pedal edema ORPHA:2299
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Castleman Disease
Jaundice, Intestinal obstruction, Weight loss ORPHA:160
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Short stature, Weight loss, Hypocapnia, Failure to thrive, Premature fusion of the r... ORPHA:90794
Behçet Disease
Myositis, Ataxia, Malabsorption, Oral ulcer, Weight loss, Gait disturbance, Recurrent aphthous st... ORPHA:117
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Retinal hemorrhage ORPHA:79098
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Intestinal obstruction, Weight loss ORPHA:97286
Penile Agenesis
Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Bilateral talipes equinovarus,... ORPHA:49
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Peripapillary atrophy... OMIM:175780
Parathyroid Carcinoma
Mandibular pain, Peptic ulcer, Weight loss ORPHA:143
Stevens-Johnson Syndrome
Esophageal stricture, Erythema, Weight loss ORPHA:36426
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Zollinger-Ellison Syndrome
Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Erythema, Weight loss, Esophagitis ORPHA:913
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... ORPHA:79102
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Ileal Neuroendocrine Tumor
Intestinal fistula, Dermatological manifestations of systemic disorders, Weight loss ORPHA:100078
Grfoma
Intestinal obstruction, Weight loss, Intermittent jaundice, Palmoplantar hyperhidrosis, Subcutane... ORPHA:97261
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Purpura, Dorsocervical fat pad, Neoplasm of the stomach, Poor wound healing, Intra-oral... ORPHA:99889
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Colitis, Weight loss, Steatorrhea ORPHA:309031
Vipoma
Malabsorption, Erythema, Weight loss, Intermittent jaundice, Subcutaneous lipoma ORPHA:97282
Ppoma
Intestinal obstruction, Weight loss, Subcutaneous lipoma, Intermittent jaundice ORPHA:97278
Somatostatinoma
Intestinal obstruction, Weight loss, Intermittent jaundice, Steatorrhea, Subcutaneous lipoma ORPHA:97283
Acute Adrenal Insufficiency
Weight loss, Failure to thrive, Delayed puberty ORPHA:95409
African Trypanosomiasis
Abnormal basal ganglia MRI signal intensity, Miscarriage, Akinesia, Jaundice, Weight loss, Choreo... ORPHA:3385
Gallbladder Neuroendocrine Tumor
Weight loss, Intermittent jaundice ORPHA:100086
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis ORPHA:216694
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Weight loss, Enlargement of parotid gland, Abnormality of the extraocular m... ORPHA:79078
Goodpasture Syndrome
Cyanosis, Weight loss OMIM:233450
Igg4-Related Retroperitoneal Fibrosis
Pedal edema, Weight loss ORPHA:49041
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Addison Disease
Celiac disease, Failure to thrive, Weight loss, Delayed puberty ORPHA:85138
Rat-Bite Fever
Tendonitis, Parotitis, Weight loss ORPHA:31205
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Reactive Arthritis
Inflammation of the large intestine, Recurrent aphthous stomatitis, Weight loss ORPHA:29207
Pancreatoblastoma
Jaundice, Weight loss ORPHA:677
Tropical Pancreatitis
Jaundice, Weight loss ORPHA:103918
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Oral ulcer, Weight loss, Colitis, Vasculitis in the s... OMIM:619381
Chronic Graft Versus Host Disease
Poor wound healing, Esophageal stricture, Erythema, Xerostomia, Flexion contracture, Weight loss,... ORPHA:99921
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Tsh-Secreting Pituitary Adenoma
Weight loss, Delayed puberty ORPHA:91347
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Sarcoidosis
Abnormal nasal mucosa morphology, Facial palsy, Weight loss, Enlargement of parotid gland, Parotitis ORPHA:797
Multiple Endocrine Neoplasia Type 1
Gingival fibromatosis, Duodenal ulcer, Peptic ulcer, Weight loss ORPHA:652
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Malt Lymphoma
Weight loss ORPHA:52417
Nocardiosis
Weight loss ORPHA:31204

Histopathology

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

There is no histopathology data for Ryk

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Rykem1(IMPC)Mbp Exon Deletion Mice, Tissue
Ryktm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ryktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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