Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

distal-less homeobox 2
DII A,  Tes-1,  Dlx-2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Dlx2 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 Dlx2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Perching Syndrome
High palate, Feeding difficulties, Dysphagia, Respiratory distress, Cyanosis OMIM:617055
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... OMIM:128980
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Feeding difficulties, Cleft palate, Respiratory distress, Upper ai... ORPHA:141152
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... ORPHA:3232
Laryngotracheal Angioma
Intercostal retractions, Feeding difficulties, Vomiting, Cough, Apnea, Respiratory distress, Cyan... ORPHA:137935
Pierre Robin Syndrome
Neonatal respiratory distress, Feeding difficulties in infancy, Cleft palate, Upper airway obstru... OMIM:261800
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Congenital Pancreatic Cyst
Jaundice, Anorexia, Abdominal distention, Abdominal pain, Vomiting ORPHA:313906
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Feeding difficulties, Death in infancy, Apnea OMIM:610992
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Abdominal distention, Diarrhea, Vomiting ORPHA:35122
Auriculocondylar Syndrome 2
Snoring, Overfolding of the superior helices, Hearing impairment, Cleft palate, Narrow mouth, Mic... OMIM:614669
Intestinal Dysmotility Syndrome
High palate, Feeding difficulties, Broad philtrum, Abdominal distention, Decreased intestinal tra... OMIM:620045
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Neonatal respiratory distress, Aspiration, Dyspnea, Stri... ORPHA:2004
Primary Effusion Lymphoma
Abdominal pain, Pleural effusion, Dyspnea, Abdominal distention ORPHA:48686
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dyspnea, Inability to walk, Aspiration pneumonia, Cough... ORPHA:90117
Neuralgic Amyotrophy
Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate ORPHA:2901
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... ORPHA:90646
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abdominal distention, Dyspepsia, Abdominal pain, Nausea, Decreased small intestina... ORPHA:103907
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Gastroesophageal reflux, Stapes ankylosis, Lobar holoprosencephaly, Submucous cleft... OMIM:614701
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Dyspnea, Retrognathia, Median cleft lip and palate, Posteriorly rotated ears, Gingi... ORPHA:1832
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala... OMIM:185800
Achalasia-Microcephaly Syndrome
Mandibular prognathia, Achalasia, Macrotia, Micrognathia ORPHA:929
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Isolated Pierre Robin Syndrome
Upper airway obstruction, Neonatal respiratory distress, Glossoptosis, Cleft palate ORPHA:718
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle sym... OMIM:184460
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Respiratory insufficiency, Abdominal distention, Abdominal pain, Gastroi... ORPHA:2924
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Feeding difficulties OMIM:616341
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Anorexia, Hypoxemia, Respiratory distress, Crackl... ORPHA:1302
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Villous atrophy, Abdominal distention, Dependency on... OMIM:619445
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... OMIM:605809
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... OMIM:254210
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Dysphagia, Respiratory dis... OMIM:619751
Congenital Myopathy 10A, Severe Variant
High palate, Gastroesophageal reflux, Restrictive ventilatory defect, Respiratory insufficiency, ... OMIM:614399
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Adiposis Dolorosa
Constipation, Abdominal distention, Painful subcutaneous lipomas OMIM:103200
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Triple A Syndrome
Motor axonal neuropathy, Ataxia, Respiratory insufficiency, Achalasia, Sensorineural hearing impa... ORPHA:869
Congenital Myasthenic Syndrome
Narrow jaw, Poor suck, Cyanosis, Nasal regurgitation, Ataxia, Obstructive sleep apnea, Microretro... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Narrow jaw, Poor suck, Cyanosis, Nasal regurgitation, Ataxia, Obstructive sleep apnea, Microretro... ORPHA:98914
Thyroid Hemiagenesis
Macroglossia, Jaundice, Abdominal distention, Constipation ORPHA:95719
Cleft Velum
Nasal regurgitation, Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media,... ORPHA:99772
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cleft Lip/Palate
Abnormality of dental eruption, Conductive hearing impairment, Unilateral cleft palate, Abnormal ... ORPHA:199306
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Congenital Disorder Of Glycosylation, Type Iy
Feeding difficulties, Widely spaced teeth, Joint dislocation, Respiratory distress, Macrotia, Mic... OMIM:300934
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... ORPHA:91359
Tetrasomy 18P
Low-set, posteriorly rotated ears, Gait disturbance, Achalasia, Narrow mouth, Long philtrum, Thin... ORPHA:3307
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Malabsorption, Abdominal distention, Abdominal pain, Constipation, Gastrointestinal dysmo... OMIM:613662
Fetal Akinesia Deformation Sequence 4
Low-set ears, Camptodactyly, High palate, Retrognathia, Posteriorly rotated ears, Skeletal muscle... OMIM:618393
Cleft Lip With Or Without Cleft Palate
Chronic sinusitis, Feeding difficulties, Median cleft lip and palate, Median cleft lip, Non-midli... ORPHA:1991
Mullegama-Klein-Martinez Syndrome
Low-set ears, Bifid uvula, Cleft lip, Atresia of the external auditory canal, Micrognathia, Cleft... OMIM:301022
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Abdominal distention, Aganglionic megacolon, Constipa... OMIM:142623
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Interstitial Pneumonitis, Desquamative, Familial
Cough, Respiratory distress, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Constipation, Intestinal malrota... OMIM:193250
Auriculocondylar Syndrome
Snoring, Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular joint,... ORPHA:137888
Dystonia, Juvenile-Onset
Pseudobulbar paralysis, Loss of ambulation, Achalasia, Cleft palate, Dysphagia, Sensorineural hea... OMIM:607371
Hypoglossia With Situs Inversus
High palate, Respiratory distress, Narrow mouth, Upper airway obstruction, Microglossia, Hypodont... OMIM:612776
Laryngeal Abductor Paralysis
Dysphagia, Stridor, Cyanosis OMIM:150260
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Stridor, Respiratory insufficiency, Dysphagia, Upper airway o... ORPHA:60032
Legg-Calvé-Perthes Disease
Cartilage destruction, Skeletal muscle atrophy, Joint dislocation, Abnormality of the dentition ORPHA:2380
Small Bowel Atresia
Feeding difficulties, Intestinal hypoplasia, Jejunal atresia, Abdominal distention, Intestinal ma... ORPHA:1201
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Hip dislocation, Bilateral sensorineural hearing impairment, Achalasia, Prelingual sensorineural ... ORPHA:436174
Choanal Atresia
Tracheomalacia, Chronic sinusitis, Feeding difficulties, Respiratory distress, Upper airway obstr... ORPHA:137914
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Tongue fasciculations, Feeding difficulties in infancy, Respiratory di... ORPHA:238329
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear... OMIM:611572
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Dyspnea, Aspiration pneumonia, Esophageal stenosis, Cough, Hypoperistals... ORPHA:1018
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, High palate, Ventilator dependence with inability to wean, Respiratory distress, Po... ORPHA:254864
2q33.1 deletion syndrome
Feeding difficulties in infancy, High palate, Cleft palate DECIPHER:51
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory distress... OMIM:300580
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Cough, Chronic lung disease, Respiratory distres... ORPHA:70589
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Hypoperistalsis, Generalized ... ORPHA:167635
Schinzel-Giedion Syndrome
Abnormal cochlea morphology, Large earlobe, Broad alveolar ridges, Abnormality of the stapes, Wid... ORPHA:798
Carey-Fineman-Ziter Syndrome 2
Low-set ears, Abnormal skeletal muscle morphology, Protruding ear, Hypomimic face, Weakness of fa... OMIM:619941
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... OMIM:619350
Macroglossia, Abdominal distention, Feeding difficulties, Constipation ORPHA:95713
Folinic Acid-Responsive Seizures
Difficulty walking, Ataxia, Abdominal distention, Apnea, Respiratory distress, Broad-based gait ORPHA:79097
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 4th finger, Dis... OMIM:186500
Central Hypoventilation Syndrome, Congenital, 1
Low-set ears, Hypercapnia, Feeding difficulties, Chronic constipation, Posteriorly rotated ears, ... OMIM:209880
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Protuberant abdomen, Abdominal distention, Prolonged neonatal jaundice, Constipatio... ORPHA:226313
Congenital Myopathy 9A
Akinesia, Tongue fasciculations, Death in infancy, Obstructive sleep apnea OMIM:618822
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Gastroesophageal reflux, Feeding difficulties, Achalasia, Cleft palate, Oral aversi... OMIM:600987
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Respiratory failure, Akinesia OMIM:619334
Cap Polyposis
Hematochezia, Colorectal polyposis, Abdominal distention, Abdominal pain, Constipation, Atrophic ... ORPHA:160148
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Porphyria Due To Ala Dehydratase Deficiency
Ventilator dependence with inability to wean, Restlessness, Difficulty walking, Respiratory insuf... ORPHA:100924
Mungan Syndrome
Megaduodenum, Hypoperistalsis, Abdominal pain, Gastroparesis, Intestinal pseudo-obstruction, Barr... OMIM:611376
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Dysphagia, Respiratory distress, Pleural ... ORPHA:50251
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Low-set ears, High palate, Retrognathia, Facial diplegia,... OMIM:611890
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Steatorrhea, Abdominal distention, Decreased intestinal tra... OMIM:615237
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Ataxia, Achalasia, Flexion contracture of finger, Pe... OMIM:609033
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Death in early adulthood, Achalasia, Dysphagia, Sensorineural hearing impairment, O... ORPHA:79107
Craniosynostosis And Dental Anomalies
Chronic otitis media, High palate, Prominent metopic ridge, Conductive hearing impairment, Corona... OMIM:614188
Chromosome 22Q11.2 Duplication Syndrome
Low-set ears, High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Micrognathia OMIM:608363
X-Linked Centronuclear Myopathy
High palate, Inability to walk, Respiratory distress, Poor suck, Pneumonia, Respiratory failure r... ORPHA:596
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Gastroesophageal reflux, Chronic pulmonary obstruction, Cough, R... ORPHA:2414
Respiratory distress, Nausea and vomiting, Gait imbalance ORPHA:673
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Death in infancy, Apnea,... OMIM:265120
Malignant Peritoneal Mesothelioma
Abdominal pain, Dyspnea, Ileus, Abdominal distention ORPHA:168811
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis OMIM:617898
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Bifid uvula, Submucous cleft hard palate, Acetabular ... OMIM:601492
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Swollen lip, Erythema, Angioedema, Tongue edema, Respiratory distress, Upper airway obstruction, ... ORPHA:100057
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, High palate, Feeding difficulties, Death in infancy, Respiratory d... OMIM:615042
Primary Peritoneal Carcinoma
Constipation, Nausea and vomiting, Abdominal distention, Abdominal pain ORPHA:168829
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Cutis marmorata, Achalasia, Livedo reticularis OMIM:615750
Adducted Thumbs Syndrome
High palate, Respiratory insufficiency, High, narrow palate, Dysphagia, Cleft palate, Velopharyng... OMIM:201550
Gaucher Disease Type 2
Dysphagia, Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Mixed hearing impairment, Trismus, Submucous cleft hard p... OMIM:609166
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, Choreoathetosis, Ataxia ORPHA:71277
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Feeding difficulties, Death in infancy, Respiratory distress, Poor suck,... OMIM:616974
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Low-set ears, Conductive hearing impairment, Feeding difficulties, Underdeveloped ... ORPHA:79113
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, High palate, Inability to walk, Feeding difficulties... OMIM:218000
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Dyspnea, Stridor, Ataxia, Ankle clonus, Respiratory insufficiency, Hearing im... OMIM:211530
Hereditary Angioedema Type 1
Abnormal soft palate morphology, Dyspnea, Dermatographic urticaria, Intestinal edema, Tongue edem... ORPHA:100050
Monosodium Glutamate Sensitivity
Flushing, Dyspnea, Nausea OMIM:231630
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Sensorineural hearing impairment ORPHA:3239
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy, Neonata... OMIM:611369
Burning Mouth Syndrome
Parageusia, Abnormal fifth cranial nerve morphology, Xerostomia, Strawberry tongue, Tongue pain, ... ORPHA:353253
Achondrogenesis, Type Ib
Respiratory insufficiency, Abdominal distention, Stillbirth OMIM:600972
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Difficulty walking, Respiratory insufficiency, Resp... ORPHA:254875
Hypoadrenocorticism, Familial
Cyanosis, Feeding difficulties in infancy, Vomiting, Apnea OMIM:240200
Permanent Congenital Hypothyroidism
Macroglossia, Jaundice, Feeding difficulties, Abdominal distention, Constipation ORPHA:226292
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Decreased DLCO, Restrictive ventilatory defect, Hyp... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Dyspnea, Cough, Paraseptal emphysema, Hypoxemia, Death in infancy,... OMIM:610921
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Low-set ears, Tachypnea, Restrictive ventilatory defect, Abnormal ... ORPHA:2257
Qazi-Markouizos Syndrome
Open mouth, Chronic constipation, Hypoplasia of teeth, Broad philtrum, Abdominal distention, High... ORPHA:3010
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth, Bilateral conductive hea... OMIM:216300
Solar Urticaria
Dyspnea, Abnormal lip morphology, Dermatographic urticaria, Angioedema, Abnormal tongue morpholog... ORPHA:97230
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hip dislocation, Congenital hip dislocation, Hydrocephalus, Achalasia, Mandibular prognathia, Dis... OMIM:616007
Osteogenesis Imperfecta, Type Iv
Wormian bones, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment OMIM:166220
Catifa Syndrome
Gait disturbance, Tooth malposition, Cleft lip, Attention deficit hyperactivity disorder, Cleft p... OMIM:618761
Hereditary Methemoglobinemia
Cyanosis, Lip discoloration, Exertional dyspnea, Athetosis ORPHA:621
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, ... OMIM:610910
Moebius Syndrome
High palate, Abnormality of the dentition, Gait disturbance, Facial diplegia, Abnormal pinna morp... OMIM:157900
Maculopapular Cutaneous Mastocytosis
Erythema, Dyspnea, Dermatographic urticaria, Darier's sign, Abdominal pain, Nausea, Diarrhea, Flu... ORPHA:79457
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Treacher Collins Syndrome 2
Conductive hearing impairment, Retrognathia, Malar flattening, Cleft palate, Microretrognathia, M... OMIM:613717
Acquired Methemoglobinemia
Dyspnea, Hypoxemia, Abdominal pain, Respiratory distress, Cyanosis, Vomiting ORPHA:464453
American Trypanosomiasis
Dyspnea, Cough, Achalasia, Abdominal pain, Aganglionic megacolon, Diarrhea, Abnormal large intest... ORPHA:3386
Restrictive Dermopathy 2
Gastroesophageal reflux, Feeding difficulties, Respiratory distress, Rectal prolapse, Cyanosis OMIM:619793
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Feeding difficulties, Chronic constipation, Difficulty walking, Aspirati... OMIM:619482
Congenital Myopathy 12
High palate, Feeding difficulties, Respiratory insufficiency due to muscle weakness, Death in inf... OMIM:612540
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... ORPHA:264675
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Falls ORPHA:240085
Immunodeficiency 70
Celiac disease, Achalasia, Colitis, Recurrent sinusitis OMIM:618969
Neurogenic Arthrogryposis Multiplex Congenita
Hip dislocation, Feeding difficulties, Respiratory insufficiency due to muscle weakness, Knee fle... ORPHA:1143
Secondary Short Bowel Syndrome
Polyphagia, Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Abdominal distention, Aganglio... ORPHA:95427
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... ORPHA:1303
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Agnathia-Otocephaly Complex
Low-set ears, Tracheomalacia, Conductive hearing impairment, Aglossia, Holoprosencephaly, Cleft p... OMIM:202650
Postsynaptic Congenital Myasthenic Syndromes
High palate, Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Cyanosi... ORPHA:98913
Primary Dystonia, Dyt4 Type
Open mouth, Gait disturbance, Dysdiadochokinesis, Dysphagia, Respiratory distress, Movement abnor... ORPHA:98805
Orofaciodigital Syndrome Xix
Low-set ears, High palate, Retrognathia, Additional crus of antihelix, Underfolded helix, Tongue ... OMIM:620107
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Stapes ankylosis, Ankle clonus, Bilateral sensorineural hearing im... ORPHA:1435
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Unsteady gait, Falls, Short stepped shuffling gait, Loss of ambulation, Gait imbalance, Neuromusc... ORPHA:240094
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Peripheral axonal neuropathy, Res... ORPHA:2596
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Diarrhea, Pn... ORPHA:411703
Succinic Acidemia
Respiratory distress OMIM:600335
Coffin-Siris Syndrome 11
Uplifted earlobe, Esophageal atresia, High palate, Prominent metopic ridge, Bifid uvula, Downturn... OMIM:618779
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Feeding difficulties, Ataxia, Esophageal stenosis, Achalasia, Hear... OMIM:615510
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:314473
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Dyspnea, Gastroesophageal reflux, Cough, Abdominal distention, A... OMIM:620233
Tetrasomy 5P
Low-set ears, High palate, Pulmonary arterial hypertension, Hydrocephalus, Posteriorly rotated ea... ORPHA:3309
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Feeding difficulties, Respiratory distress, Gait ataxia, Diarrhea, Vomiting OMIM:612075
Surfactant Metabolism Dysfunction, Pulmonary, 2
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... OMIM:610913
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Poor appetite, Abdominal distention, Abdomi... ORPHA:298
Sepsis In Premature Infants
Jaundice, Dyspnea, Abnormal respiratory system physiology, Vomiting, Abdominal distention, Functi... ORPHA:90051
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Cleft lip, Abnormal ear morphology, Cleft palate ORPHA:91412
Encephalopathy, Ethylmalonic
Feeding difficulties, Ataxia, Death in infancy, Chronic diarrhea, Petechiae, Acrocyanosis OMIM:602473
Treacher Collins Syndrome 3
Conductive hearing impairment, Malar flattening, Cleft palate, Micrognathia, Hypoplasia of the zy... OMIM:248390
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Abdominal distention, Smooth philtrum, Fe... OMIM:300048
Chiari Malformation Type Ii
Feeding difficulties, Ataxia, Dysphagia, Cyanosis, Inspiratory stridor OMIM:207950
Osteogenesis Imperfecta, Type I
Wormian bones, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment OMIM:166200
Robinow Syndrome, Autosomal Dominant 2
Camptodactyly, Oligodontia, Conductive hearing impairment, Abnormality of the dentition, Mixed he... OMIM:616331
Gaucher Disease, Perinatal Lethal
Low-set ears, Open mouth, Retrognathia, Everted lower lip vermilion, Dysphagia, Purpura, Narrow m... OMIM:608013
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Holoprosencephaly, Mandibul... ORPHA:990
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Abnormal palate morphology, Hydrocephalus, Malar flattening, Respi... ORPHA:93262
Intestinal Botulism
Dyspnea, Respiratory insufficiency due to muscle weakness, Xerostomia, Death in infancy, Dysphagi... ORPHA:178481
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Abdominal pain, Gastroparesis, Malnutrition, Spontaneous esophageal perfora... OMIM:277320
Infant Acute Respiratory Distress Syndrome
Tachypnea, Hypoxemia, Pneumonia, Respiratory failure, Nasal flaring, Cyanosis ORPHA:70587
Spondylocostal Dysostosis 1, Autosomal Recessive
Protuberant abdomen, Abdominal distention, Death in infancy OMIM:277300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Protruding ear, Smooth philtrum, Optic atrophy, Thin upper lip vermilion,... OMIM:618737
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Neonatal respiratory distress, Gastroesophageal reflux, Feeding difficulties,... OMIM:618426
Letterer-Siwe Disease
Jaundice, Dyspnea, Stomatitis, Abdominal distention OMIM:246400
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Tachypnea OMIM:267450
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Protein-losing enteropathy, Death in infancy, Neonatal death, Long philtrum... OMIM:608104
Split-Hand/Foot Malformation 3
High palate, Abnormal pinna morphology, Cleft palate, Narrow mouth, Microretrognathia, Hypoplasia... OMIM:246560
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Feeding difficulties, Respiratory distress, Thin vermilion border, Macrotia, Micrognathia, Short ... ORPHA:261304
Crouzon Syndrome
Multiple suture craniosynostosis, Conductive hearing impairment, Hydrocephalus, Respiratory insuf... ORPHA:207
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Feeding difficulties, Bifid uvula, Mixed hearing impairment, Posteriorly rotated ears, Cleft pala... OMIM:606164
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Difficulty walking OMIM:619345
Alternating Hemiplegia Of Childhood
Aspiration, Ataxia, Vomiting, Anorexia, Abdominal distention, Apnea, Dysphagia, Respiratory distr... ORPHA:2131
Meckel Syndrome, Type 8
Cleft upper lip, Abdominal distention, Cleft palate OMIM:613885
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Intestinal hypoplasia, Respiratory insufficiency, Posteriorly rotated ea... ORPHA:994
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Feeding difficulties, Dysphagia, Respiratory distress, Microretrognathia, Agenesis ... ORPHA:89844
Frontonasal Dysplasia 1
Median cleft palate, Low-set ears, Conductive hearing impairment, Hypoplastic frontal sinuses, An... OMIM:136760
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk OMIM:617977
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, High palate, Arthrogryposis multiplex congenita, Retrognathia, Facial diplegia, Hyp... OMIM:618186
Cardiomyopathy, Dilated, 2H
Feeding difficulties, Cardiorespiratory arrest, Neonatal death, Tachypnea OMIM:620203
Thyroid Lymphoma
Dyspnea, Dysphagia, Upper airway obstruction, Respiratory distress, Stridor ORPHA:97285
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, High palate, Pulmonary arterial hypertension, Abnormality of the k... ORPHA:98915
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, High palate, Inability to walk, Feeding difficulties, Chronic constipation, Attenti... OMIM:619383
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Retrognathia, Bifid uvula, Submucous cleft hard palate, Mandibular progn... ORPHA:2521
Orofacial Cleft 13
Oligodontia, Retrognathia, Malar flattening, Micrognathia, Cleft soft palate OMIM:613857
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology, Supernumerary tooth, Carious teeth,... ORPHA:3145
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Abnormal lip morphology, Feeding difficulties, Retrognathia, Microdontia, High, narrow p... ORPHA:2707
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, High palate, Conductive hearing impairment, Open mouth, Bifid uvula, Submucous clef... OMIM:617412
Branchiootic Syndrome
Conductive hearing impairment, Abnormality of the inner ear, Atresia of the external auditory can... ORPHA:52429
Perry Syndrome
Disinhibition, Short stepped shuffling gait, Respiratory insufficiency, Hypoventilation, Central ... OMIM:168605
Lethal Congenital Contracture Syndrome 8
Distal arthrogryposis, Facial diplegia, Distal amyotrophy, Death in infancy, Neonatal death, Peri... OMIM:616287
Breath-Holding Spells
Cyanosis OMIM:607578
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal... OMIM:619466
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Knee flexion contracture, High, narrow palate, Telangiectasia, Respiratory distress, Smoo... OMIM:608799
Muscular Dystrophy, Congenital, With Or Without Seizures
Feeding difficulties, Ataxia, Loss of ambulation, Abdominal pain, Dysphagia, Respiratory distress... OMIM:620166
Lujan-Fryns Syndrome
High palate, Low-set ears, Abnormality of the dentition, Camptodactyly of finger, Protruding ear,... ORPHA:776
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Feeding difficulties, Ataxia, Poor appetite, Agitation, Reye syndrome-like episodes, Respiratory ... ORPHA:927
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Cleft palate, Everted lower... OMIM:616367
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Abnormality of the dentition, External ear malformation, Campt... ORPHA:915
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Hearing impairment OMIM:615993
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Hearing impairment OMIM:221350
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Tooth agenesis, Anteriorly placed anus, Hydrocephalus, Malar flattening, Cleft ... ORPHA:1555
Anaplastic Thyroid Carcinoma
Dyspnea, Stridor, Cough, Dysphagia, Upper airway obstruction, Respiratory distress, Tracheoesopha... ORPHA:142
Acute Lung Injury
Dyspnea, Alcoholism, Hypoxemia, Respiratory distress, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Knee flexion contracture, Lateral ventricle dilatation, Gastrostomy tube feedin... ORPHA:284417
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, High palate, Inability to walk, Feeding difficulties, Protruding ear, Ataxia, Diffi... ORPHA:481152
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Alcoholism, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pleu... ORPHA:36238
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Difficulty walking, Cough, Abdominal pain, Respiratory distress, Waddling gait ORPHA:86812
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Avian Influenza
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Abdomin... ORPHA:454836
Intellectual Developmental Disorder, Autosomal Dominant 70
Feeding difficulties, Retrognathia, Hydrocephalus, Retinal telangiectasia, Malar flattening, Mand... OMIM:620157
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Oxygen desaturation on exertion, Wheezing, Difficulty walking, Ata... OMIM:610978
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Thyroid Hypoplasia
Macroglossia, Jaundice, Abdominal distention, Constipation ORPHA:95720
Fabry Disease
Dyspnea, Chronic pulmonary obstruction, Malabsorption, Angiokeratoma, Anorexia, Mucosal telangiec... ORPHA:324
Auriculocondylar Syndrome 3
Retrognathia, Bifid uvula, Glossoptosis, Stenosis of the external auditory canal, Micrognathia, B... OMIM:615706
Hsd10 Disease, Infantile Type
Restlessness, Loss of ambulation, Hearing impairment, Dysphagia, Gastrointestinal dysmotility, Cy... ORPHA:391428
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormality of the dentition, Abnormal intestine morphology, Polyarticular arthritis, Achalasia, ... OMIM:615952
Wolman Disease
Steatorrhea, Abdominal distention, Esophageal varix, Malnutrition, Nausea and vomiting, Hepatic f... ORPHA:75233
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Protuberant abdomen, Flat acetabular roof, Widely spaced teeth, Respiratory distres... OMIM:617102
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Autosomal Recessive Centronuclear Myopathy
High palate, Retrognathia, Facial diplegia, Protruding ear, Bifid uvula, Type 1 muscle fiber pred... ORPHA:169186
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, High palate, Respiratory insufficiency, Knee flexion cont... ORPHA:1145
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Akinesia, Truncal ataxia ORPHA:98764
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Hematochezia, Protein-losing enteropathy, Abdominal distention ORPHA:103910
Nipah Virus Disease
Cough, Nausea and vomiting, Anorexia, Respiratory distress ORPHA:99825
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Respiratory distress, Cleft palate ORPHA:66637
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia, Neonatal death, Microtia OMIM:612138
Oculofaciocardiodental Syndrome
Oligodontia, Abnormality of the dentition, Tooth malposition, Abnormal palate morphology, Submuco... ORPHA:2712
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Hypoperistalsis, Abdominal distention, Death in infanc... ORPHA:2241
Isolated Childhood Apraxia Of Speech
Overfolded helix, Submucous cleft hard palate, High, narrow palate ORPHA:209908
Benign Familial Neonatal Epilepsy
Gastroesophageal reflux, Circumoral cyanosis, Apnea ORPHA:1949
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Conductive hearing impairment, Retrognathia, Bifid uvula, Posteriorly rotated ears,... ORPHA:2780
Spondylometaphyseal Dysplasia, Schmidt Type
Gastroesophageal reflux, Abnormality of the knee, Abnormality of the wrist, Gastrostomy tube feed... ORPHA:93316
Myasthenic Syndrome, Congenital, 21, Presynaptic
Feeding difficulties, Difficulty walking, Respiratory insufficiency, Meconium ileus, Apnea, Cyanosis OMIM:617239
Congenital Tufting Enteropathy
Anal atresia, Secretory diarrhea, Malabsorption, Steatorrhea, Villous atrophy, Abdominal distenti... ORPHA:92050
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Camptodactyly, Abnormality of the dentition, Posteriorly rotated ears, Long philtru... OMIM:618529
17Q24.2 Microdeletion Syndrome
Tooth malposition, Abnormality of the wrist, Recurrent otitis media, Progressive conductive heari... ORPHA:529962
Orofaciodigital Syndrome Type 5
Abnormality of the philtrum, Bifid uvula, Enamel hypoplasia, Aganglionic megacolon, High, narrow ... ORPHA:2919
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Vertebral fusion, Joint dislocation, Cleft palate, Multiple pterygia, Micrognathia,... OMIM:253290
Lead Poisoning
Miscarriage, Abnormal respiratory system physiology, Anorexia, Attention deficit hyperactivity di... ORPHA:330015
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Neonatal death, Cleft palate, Congenital diaphragmatic hernia, Intest... OMIM:615524
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Feeding difficulties ORPHA:26792
Kniest Dysplasia
Tracheomalacia, Gait disturbance, Conductive hearing impairment, Abnormal cartilage collagen, Hip... OMIM:156550
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Low-set ears, Camptodactyly of finger, Abnormality of the dentition, Abnormal p... ORPHA:178303
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Oligodontia, Low-set ears, Severe sensorineural hearing impairmen... ORPHA:363417
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia ORPHA:2140
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Cyanosis, Esophageal atresia, Pulmonary ... ORPHA:95430
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Feeding difficulties, Anorexia, Abdominal pain, Respiratory distress, Nausea and vomiting, Choreo... ORPHA:79312
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, High palate, Prominent metopic ridge, Aspiration pneumonia, Deep philtrum, Hypovent... ORPHA:314655
Crouzon Syndrome
High palate, Coronal craniosynostosis, Conductive hearing impairment, Hydrocephalus, Mandibular p... OMIM:123500
Visceral Myopathy 1
Megaduodenum, Abdominal distention, Aganglionic megacolon, Abdominal pain, Dysphagia, Constipatio... OMIM:155310
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Cleft hard palate, Knee flexion contracture, Fixed elbow flexion, Microgn... ORPHA:166016
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Limited elbow extension, High palate, Palmoplantar cutis laxa, Bifid uvula, Hyd... OMIM:123790
Liver Failure, Infantile, Transient
Acute hepatic failure, Jaundice, Abdominal distention, Death in infancy, Feeding difficulties in ... OMIM:613070
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Bowel incontinence, Gastroesophageal reflux, Palmoplantar cutis ... OMIM:616482
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Anteriorly placed anus, Abnormal pinna morphology,... OMIM:217980
Van Maldergem Syndrome 1
Anal atresia, High palate, Conductive hearing impairment, Irregular dentition, Anteriorly placed ... OMIM:601390
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Abnormality of the wrist, Narrow mouth, Se... ORPHA:1529
Shprintzen-Goldberg Craniosynostosis Syndrome
Craniosynostosis, Low-set ears, High palate, Conductive hearing impairment, Gastroesophageal refl... OMIM:182212
Native American Myopathy
High palate, Camptodactyly, Conductive hearing impairment, Bifid uvula, Muscle fiber atrophy, Ske... ORPHA:168572
Distal 17P13.1 Microdeletion Syndrome
High palate, Retrognathia, Protruding ear, Limitation of knee mobility, Limited elbow movement, H... ORPHA:319171
Otosclerosis 10
Otosclerosis OMIM:615589
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:613561
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Mandibular prognathia, Macrotia, Hypoplasia of the maxilla ORPHA:93950
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear, Hydrocephalus OMIM:618302
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress, Flared elbow metaphyses, Micrognathia ORPHA:1423
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Microtia, third degree, Bifid uvula, Hearing impairment, Cleft palate, N... ORPHA:2554
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, T... OMIM:614299
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Open mouth, Protuberant abdomen, Gait disturbance, Hyperactivity, Long philtrum... ORPHA:457485
Macroglossia, High palate, Protuberant abdomen, Attention deficit hyperactivity disorder, Sleep a... OMIM:269921
Peritoneal Cystic Mesothelioma
Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Esophageal Atresia
Aspiration, Chronic pulmonary obstruction, Hearing impairment, Cleft palate, Morphological abnorm... ORPHA:1199
Combined Oxidative Phosphorylation Defect Type 23
Feeding difficulties in infancy, Paroxysmal dyspnea, Respiratory failure, Cyanosis, Stridor ORPHA:444013
Distal Xq28 Microduplication Syndrome
Open mouth, High palate, Short lingual frenulum, Attention deficit hyperactivity disorder, Tip-to... ORPHA:293939
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Hydrocephalus, Achalasia, Esophageal stricture, Pe... OMIM:617053
Arthrogryposis Multiplex Congenita 5
Prominent antihelix, Neonatal respiratory distress, Hip dislocation, Restrictive ventilatory defe... OMIM:618947
Nager Syndrome
Low-set, posteriorly rotated ears, Abnormal palate morphology, Respiratory insufficiency, Atresia... ORPHA:245
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Decreased DLCO, Hypoxemia, Bronchiectasis, Respiratory failure, Nonproductive... ORPHA:79126
Mucopolysaccharidosis Type 2
Macroglossia, Abnormal nasal mucus secretion, Conductive hearing impairment, Hyperactivity, Tempo... ORPHA:580
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, High palate, Conductive hearing impairment, Abnormality of the... ORPHA:1307
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Ataxia, Recurrent aphthous stomatitis, Intestinal obstruction, Abdominal pain, Purpura,... ORPHA:343
Multiple Carboxylase Deficiency
Feeding difficulties, Ataxia, Hearing impairment, Respiratory distress, Tachypnea, Optic atrophy ORPHA:148
Amish Lethal Microcephaly
Feeding difficulties, Spina bifida, Death in infancy, Micrognathia, Cleft soft palate, Optic atro... ORPHA:99742
Myotubular Myopathy With Abnormal Genital Development
High palate, Feeding difficulties, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Esophageal atresia, Conductive hearing impairment, Malar flattening, Deep philtrum,... OMIM:610536
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
High palate, Plantar flexion contracture, Paradoxical respiration, Peripheral axonal neuropathy, ... OMIM:620011
Apert Syndrome
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Hydrocephalus, Respiratory insuff... ORPHA:87
Tarp Syndrome
Prominent antihelix, Low-set, posteriorly rotated ears, Abnormal duodenum morphology, Abnormal an... ORPHA:2886
20P12.3 Microdeletion Syndrome
Malar flattening, Narrow mouth, Long philtrum, Microtia, Hypoplasia of the maxilla, Thickened hel... ORPHA:261295
Meckel Syndrome 14
Low-set ears, Protuberant abdomen, Retrognathia, Occipital encephalocele, Holoprosencephaly, Abdo... OMIM:619879
Postencephalitic Parkinsonism
Open mouth, Abnormal respiratory system physiology, Cough, Dysphagia, Akinesia, Vomiting ORPHA:97349
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Abnormal antitragus morphology, Camptodactyly of finger, Malar... ORPHA:1968
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Feeding difficulties OMIM:615597
Congenital Hypothyroidism
Macroglossia, Angiokeratoma corporis diffusum, Intestinal obstruction, Abdominal distention, Prol... ORPHA:442
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis ORPHA:922
Double Outlet Right Ventricle
Feeding difficulties, Submucous cleft hard palate, Cleft palate, Narrow mouth, Tachypnea, Cyanosi... ORPHA:3426
Niemann-Pick Disease, Type A
Protuberant abdomen, Inability to walk, Prolonged neonatal jaundice, Athetosis, Constipation, Fee... OMIM:257200
Stickler Syndrome, Type I
Conductive hearing impairment, Bifid uvula, Arthropathy, Malar flattening, Submucous cleft hard p... OMIM:108300
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Ataxia, Attention deficit hyperactivity disorder, Protruding tongue, Apnea, Ga... OMIM:619580
Achondrogenesis Type 1A
Long philtrum, Abdominal distention ORPHA:93299
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Abnormal palate morphology, Abnormality of the knee, Malar flattening... ORPHA:2412
Al Amyloidosis
Macroglossia, Dyspnea, Bruising susceptibility, Abnormal salivary gland morphology, Xerostomia, A... ORPHA:85443
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abdominal distention, Gastroparesis, Spontaneous esophageal perforation, Intestina... ORPHA:1876
Cirrhosis, Familial
Pulmonary arterial hypertension, Jaundice, Abdominal distention, Fulminant hepatitis, Esophageal ... OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Neonatal death, Hearing impairment, Flexion contracture, Optic atrophy OMIM:618237
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Cyanosis, Crackles ORPHA:747
Low-set ears, Low-set, posteriorly rotated ears, Retrognathia, Bifid uvula, Hydrocephalus, Unilat... ORPHA:2189
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Vomiting OMIM:237310
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Abdominal distention, Cleft palate, Intestinal malrotation, Rectovaginal fistula, S... OMIM:270420
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, High palate, Feeding difficulties, Anteriorly placed anus, Hydrocephalus, Submucous... OMIM:612863
Bowel incontinence, Trismus, Autonomic bladder dysfunction, Abnormal autonomic nervous system phy... ORPHA:3299
Coffin-Lowry Syndrome
Death in early adulthood, Craniofacial hyperostosis, Open mouth, High palate, Gait disturbance, P... ORPHA:192
Stickler Syndrome Type 1
Osteoarthritis, Cleft palate, Long philtrum, Sensorineural hearing impairment, Hypoplasia of the ... ORPHA:90653
Meier-Gorlin Syndrome 5
Low-set ears, Gastroesophageal reflux, Feeding difficulties, Prominent metopic ridge, Patellar ap... OMIM:613805
Protuberant abdomen ORPHA:221054
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Low-set ears, Abnormal antitragus morphology, Abnormal lip morpholog... ORPHA:2759
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Cupped ear, Macrotia, Short philtrum, Hypoplasia of the maxilla ORPHA:93945
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Feeding difficulties in infancy, Tachypnea ORPHA:45452
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Scapular winging, Dar... OMIM:619122
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, External ear malformation, Ataxia, Abnormality of primary teeth, Tented upper lip ve... ORPHA:438216
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Peripheral demyelination, Feeding difficulties, Hearing impairment OMIM:616733
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Nemaline bodies, Fatty replacement of skeletal muscle,... OMIM:616165
Obsolete: Arnold-Chiari Malformation Type Ii
Feeding difficulties, Partial agenesis of the corpus callosum, Myelomeningocele, Hydrocephalus, M... ORPHA:1136
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Hypoxemia, Respiratory distress, Neonatal ... ORPHA:70588
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Pulmonary arterial hypertension, Hypoperistalsis, Tachypnea OMIM:613834
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Camptodactyly of finger, Hypoplasia of the maxilla, Protruding ear ORPHA:85279
Lethal Kniest-Like Dysplasia
Low-set ears, Wide anterior fontanel, Abnormal cartilage matrix, Cleft palate, Abnormal cartilage... ORPHA:2347
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Intermittent jaundice, Episodic abdominal pain, Facial telangiectasia, Anorexia, Abdomin... ORPHA:100085
Van Maldergem Syndrome 2
High palate, Tracheomalacia, Conductive hearing impairment, Irregular dentition, Anteriorly place... OMIM:615546
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Joint dislocation, High, narrow palate, Abn... ORPHA:3201
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Protruding ear, Recurrent otitis media, Macrotia, Micrognathia, Cyanosis, Thin upper... ORPHA:3304
Achalasia-Addisonianism-Alacrima Syndrome
Motor axonal neuropathy, Ataxia, Achalasia, Abnormal autonomic nervous system physiology, Orthost... OMIM:231550
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Progeroid facial appearance, Sensorineural hearing impairment, Cubitus valgus, Disha... OMIM:608154
Spinocerebellar Ataxia 21
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Gait ataxia, Akinesia, Impulsivity OMIM:607454
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Abnormal pinna morphology, Wide anterior fontanel, Neonatal death, Respiratory distress... OMIM:231680
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Respiratory distress, Tachypnea, Nausea and vomiting ORPHA:79242
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Retrognathia, Posteriorly rotated ears, Smooth philtrum, Cleft soft palate, ... ORPHA:293725
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Abdominal distention, Gastroesophageal reflux, Pyloric stenosis OMIM:256300
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Cleft palate, Pterygium, Micrognathia, Akinesia, Agenesis of corp... OMIM:225790
Saethre-Chotzen Syndrome
Craniosynostosis, Low-set ears, Proximal radio-ulnar synostosis, Conductive hearing impairment, E... ORPHA:794
Gaucher Disease, Type Ii
Protuberant abdomen, Gastroesophageal reflux, Feeding difficulties, Cough, Death in infancy, Apne... OMIM:230900
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Bor Syndrome
External ear malformation, Retrognathia, Abnormality of the middle ear ossicles, Atresia of the e... ORPHA:107
Achalasia, Familial Esophageal
Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Diarrhea, Ataxia ORPHA:51188
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Bilateral elbow dislocations, Carpal osteolysis, Wrist swelling, Ankle swellin... OMIM:166300
Episodic Ataxia Type 1
Respiratory distress, Tip-toe gait, Choreoathetosis, Nausea ORPHA:37612
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Birk-Barel Syndrome
High palate, Bifid uvula, Dysphagia, Reduced subcutaneous adipose tissue, Tented upper lip vermil... OMIM:612292
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Difficulty walking, Lateral ventricle dilatation, Dysplastic corpus callosum, D... ORPHA:488627
Schilbach-Rott Syndrome
Bifid uvula, Posteriorly rotated ears, Submucous cleft hard palate, Narrow mouth, Micrognathia, M... OMIM:164220
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, High palate, Camptodactyly of toe, Congenital hip dislocation, Bifid uvu... OMIM:114300
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Feeding difficulties, Freezing of gait OMIM:619911
Loeys-Dietz Syndrome 5
Cleft soft palate, High palate, Retrognathia, Bifid uvula, Decreased muscle mass, Hiatus hernia, ... OMIM:615582
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Abdominal distention, Protein-losing enteropathy, Death in infancy, Cleft palate, Sm... OMIM:235255
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
High palate, Feeding difficulties, Death in infancy, Irregular respiration, Respiratory distress,... OMIM:604377
Branchiootorenal Syndrome 1
Cholesteatoma, Bifid uvula, Cleft palate, Cupped ear, Hypoplasia of the cochlea, Branchial cyst, ... OMIM:113650
Cree Mental Retardation Syndrome
Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia OMIM:606851
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Feeding difficulties, Difficulty walking, Ataxia, Achalasia, Esophagitis, Athe... OMIM:615356
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Mitochondrial Complex I Deficiency, Nuclear Type 28
Gastroesophageal reflux, Optic neuropathy, Optic disc pallor, Hearing impairment, Akinesia, Optic... OMIM:618249
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Conductive hearing impairment, Feeding difficulties, Abnormal ca... ORPHA:51608
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Agitation, Ankyloglossia, Widely spaced teeth, Hearing impairment, Cleft palate, Smooth philtrum,... OMIM:619950
Jaundice, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:677
Lowry-Maclean Syndrome
Craniosynostosis, Midgut malrotation, Low-set ears, Retrognathia, Pyloric stenosis, Hydrocephalus... ORPHA:2409
Atypical Juvenile Parkinsonism
Inability to walk, Short stepped shuffling gait, Gait ataxia, Akinesia, Shuffling gait ORPHA:391411
Meier-Gorlin Syndrome 4
Low-set ears, Patellar aplasia, Feeding difficulties, Genu recurvatum, Narrow mouth, Emphysema, M... OMIM:613804
Maxillonasal Dysplasia
Tooth agenesis, Mandibular prognathia, Microdontia, Cleft palate, Open bite, Hypoplasia of the ma... ORPHA:1248
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Cough, Gastrointestinal infarctions, Hypoxemia, Telangi... ORPHA:2038
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal vestibulo-ocular reflex, Ataxia, Abnormal autonomic n... ORPHA:247234
Meier-Gorlin Syndrome 1
Hearing impairment, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of the patella, Feeding diffic... OMIM:224690
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Deep philtrum, Respiratory distress, Dental malocclusion, Nasogastric tube feeding, ... ORPHA:329178
X-Linked Acrogigantism
Polyphagia, Snoring, Diastema, Ataxia, Abdominal distention, Sleep apnea ORPHA:300373
Retrognathia, Death in infancy, Respiratory distress, Delayed eruption of teeth, Dentinogenesis i... ORPHA:166272
Glucose-Galactose Malabsorption
Vomiting, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Diastema, Hyperactivity, Protruding ear, Restlessness, Mandibular prognathia, Smooth... OMIM:300534
Mercury Poisoning
Dyspnea, Anorexia, Respiratory distress, Nausea, Respiratory failure, Episodic abdominal pain, In... ORPHA:330021
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, High palate, Ataxia, Respiratory insufficiency due to muscle weakness, Respir... OMIM:220110
Microcephaly 30, Primary, Autosomal Recessive
Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Thin upper lip vermilion OMIM:620183
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Prominent antihelix, Joint contracture of the 5th finger, Long philtrum, Macrotia, ... OMIM:614407
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Posteriorly rotated ears, Submucous cleft hard palate, Protruding tongue, Dental cro... OMIM:618106
Congenital Fibrinogen Deficiency
Gingival bleeding, Bruising susceptibility, Volvulus, Abdominal pain, Cyanosis, Subcutaneous hemo... ORPHA:335
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Low-set ears, High palate, Conductive hearing impairment, Anterior... OMIM:117650
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hip dislocation, Hydrocephalus, Malar flattening, Abnormal auditory evoked potentials, Sensorineu... OMIM:109120
Respiratory distress, Hypoxemia, Pneumonia, Subcutaneous hemorrhage ORPHA:238459
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Tooth malposition, Abnormal palate morphology, Ataxia, Abnormal helix mo... ORPHA:2896
Castleman Disease
Jaundice, Dyspnea, Cough, Intestinal obstruction, Abdominal distention, Abdominal pain, Nausea an... ORPHA:160
Carpenter Syndrome 1
Low-set ears, High palate, Conductive hearing impairment, Coronal craniosynostosis, Agenesis of p... OMIM:201000
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Nausea and vomiting, Choreoathetosis ORPHA:289916
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Smooth philtrum, Micrognathia, Cleft soft palate, Facial hypotonia OMIM:614526
Cohen Syndrome
Open mouth, High, narrow palate, Genu valgum, Cubitus valgus, Micrognathia, Feeding difficulties ... OMIM:216550
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Chronic constipation, Hypoplasia of the maxilla OMIM:300676
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Abdominal distention, Fulminant hepatic failure OMIM:618528
Neuromuscular Oculoauditory Syndrome
Aspiration, Unsteady gait, Sensory axonal neuropathy, Posteriorly rotated ears, Decreased amplitu... OMIM:618733
Colonic Atresia
Colonic atresia, Peptic ulcer, Abdominal distention, Duodenal stenosis ORPHA:1198
Acute Intermittent Porphyria
Ileus, Weakness of muscles of respiration, Restlessness, Respiratory insufficiency, Pseudobulbar ... ORPHA:79276
Mohr Syndrome
High palate, Conductive hearing impairment, Hydrocephalus, Malar flattening, Accessory oral frenu... OMIM:252100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Conductive hearing impairment, Selective tooth agenesis, Widely spaced teeth, Atre... OMIM:106260
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Camptodactyly of finger, Conductive hearing impairment, Temporomandibular joint ank... ORPHA:217085
Dubowitz Syndrome
Protruding ear, Malabsorption, Hearing impairment, Rectal prolapse, Anal stenosis, Chronic diarrh... ORPHA:235
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Low-set ears, Protruding ear, Mandibular prognathia, Smooth philtrum, Cubitus valgus, Hypoplasia ... ORPHA:1778
Craniosynostosis 2
Craniosynostosis, Bicoronal synostosis, Metopic synostosis, Wormian bones, Unicoronal synostosis,... OMIM:604757
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness, Shuffling gait OMIM:300266
Treacher-Collins Syndrome
Tooth agenesis, Cleft palate, Abnormality of the middle ear, Narrow mouth, Rectovaginal fistula, ... ORPHA:861
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Camptodactyly of finger, Conductive hearing impairment, Temporomandibular joint ank... ORPHA:217093
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, High palate, Congenital hip dislocation, Unsteady gait, Ataxia, Pyloric stenosis, W... ORPHA:457279
Odontochondrodysplasia 1
Genu varum, Flat acetabular roof, Delayed ossification of carpal bones, Death in infancy, Genu re... OMIM:184260
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Wide anterior fontanel, Poor suck, Delayed closure of the anterior fontanelle, Hep... OMIM:614886
Cohen Syndrome
Open mouth, Abnormality of the dentition, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Hypop... ORPHA:193
Abdominal distention, Abdominal pain ORPHA:206484
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Gait disturbance, Malabsorption, Respiratory insufficiency, Cough, Intes... ORPHA:183
Oromandibular Dystonia
Abnormal lip morphology, Abnormality of the temporomandibular joint, Dysphagia, Respiratory distr... ORPHA:93958
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Hip dislocation, Bifid uvula, Malar flattening, Restrictive ventilatory defe... OMIM:183900
Intellectual Disability-Alacrima-Achalasia Syndrome
Dysphagia, Deep philtrum, Achalasia ORPHA:289483
Pediatric Systemic Lupus Erythematosus
Dyspnea, Abdominal distention, Abdominal pain, Diarrhea, Pleural effusion, Vomiting, Oral ulcer ORPHA:93552
Achondrogenesis, Type Ii
Stillbirth, Protuberant abdomen, Long philtrum, Cleft palate OMIM:200610
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Abnormal joint morphology, Microtia, third degree, Bifid uvula, Joint di... ORPHA:2753
Desmoplastic Small Round Cell Tumor
Abdominal pain, Nausea and vomiting, Ileus, Abdominal distention ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Abdominal distention, Death in infancy OMIM:619423
Necrotizing Enterocolitis
Abdominal distention, Apnea, Bloody diarrhea, Diarrhea, Vomiting ORPHA:391673
High palate, Abnormality of the dentition, Coronal craniosynostosis, Persistent open anterior fon... ORPHA:763
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal distention, Recurrent infection of the gastrointestinal tract, Abdominal pain... ORPHA:51890
Marshall-Smith Syndrome
Death in childhood, Optic nerve hypoplasia, Hearing impairment, Overfolded helix, Bilateral condu... OMIM:602535
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon, Neonatal death OMIM:619362
Ovarian Fibrothecoma
Pleural effusion, Abdominal distention, Abdominal pain ORPHA:314478
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Short philtrum, Thin vermilion border, Hypoplasia of the maxilla OMIM:156510
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Genu varum, Mandibular prognathia, Narrow mouth, Downturned co... ORPHA:1110
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Aglossia, Malar flattening, Micrognathia, Optic disc colob... OMIM:241310
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, High palate, Conductive hearing impairment, Protruding ear, Se... ORPHA:1131
Buratti-Harel Syndrome
Low-set ears, High palate, Bifid uvula, Posteriorly rotated ears, Submucous cleft hard palate, Ve... OMIM:619314
Pulmonary Capillary Hemangiomatosis
Dyspnea, Decreased DLCO, Hypoxemia, Elevated pulmonary artery pressure, Exertional dyspnea, Cyano... ORPHA:199241
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Jaundice, Ataxia, Loss of ambulation, Abdominal distention, Prolonged neon... OMIM:256810
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Angelman Syndrome
Macroglossia, Hyperactivity, Ataxia, Widely spaced teeth, Mandibular prognathia, Progressive gait... OMIM:105830
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Conductive hearing impairment, Protruding ear, Widely spaced teeth, Submucous clef... ORPHA:1071
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Cleft palate ORPHA:85166
Celiac Disease, Susceptibility To, 1
Stomatitis, Ataxia, Recurrent aphthous stomatitis, Steatorrhea, Abdominal distention, Enamel hypo... OMIM:212750
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Feeding difficulties, Restlessness, Respiratory distress, Gastrostomy tube feeding in infancy, Hy... ORPHA:544503
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Nausea, Vomiting, Abdominal pain ORPHA:90003
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, High palate, Arthrogryposis multiplex congenita, Death in infa... ORPHA:85212
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, High palate, Oligodontia, Prominent metopic ridge, Posteriorly rotated ears, Cleft ... OMIM:608670
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Death in childhood, Narrow mouth, Long philtrum, Akinesia, Vomiting OMIM:619147
Cleidocranial Dysplasia
Chronic otitis media, Abnormality of the dentition, Mandibular prognathia, Abnormal dental enamel... ORPHA:1452
Hereditary Fructose Intolerance
Jaundice, Abdominal distention, Chronic hepatic failure, Abdominal pain, Constipation, Nausea, Di... ORPHA:469
Antley-Bixler Syndrome
Craniosynostosis, Elbow ankylosis, Low-set, posteriorly rotated ears, Camptodactyly of finger, Cl... ORPHA:83
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Angioedema, Malabsorption, Cough, Feeding difficulties in infancy, Pulmonary embolism, C... ORPHA:3260
Tracheomalacia, Low-set ears, Protuberant abdomen, Respiratory insufficiency, Cleft palate, Respi... OMIM:608022
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology, Abdominal distention ORPHA:2290
Rapp-Hodgkin Syndrome
Conical tooth, Bifid uvula, Taurodontia, Microdontia, Enamel hypoplasia, Hearing impairment, Clef... OMIM:129400
Holoprosencephaly 13, X-Linked
Median cleft palate, Colpocephaly, Low-set ears, Gastroesophageal reflux, Duodenal atresia, Submu... OMIM:301043
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Neuromuscular dysphagia, Akinesia, Impulsivity ORPHA:240071
Mirizzi Syndrome
Jaundice, Anorexia, Abdominal distention, Abdominal pain, Abdominal colic, Nausea, Vomiting ORPHA:521219
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Abdominal distention, Chylothorax OMIM:617300
Lethal Congenital Contracture Syndrome 2
Akinesia, Respiratory failure OMIM:607598
Cerebrofacioarticular Syndrome
Tracheomalacia, Conductive hearing impairment, Irregular dentition, Ataxia, Anteriorly placed anu... ORPHA:314679
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Peripapillary atrophy, Large joint dislocations, Carious teeth, Hydrocep... ORPHA:536467
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic failure, Apnea OMIM:261680
Tricuspid Atresia
Cyanosis ORPHA:1209
Pfeiffer Syndrome Type 2
Low-set ears, Anal atresia, High palate, Tracheomalacia, Hydrocephalus, Malar flattening, Aqueduc... ORPHA:93259
Dental Anomalies And Short Stature
Oligodontia, Widely spaced teeth, Amelogenesis imperfecta, Mandibular prognathia, Microdontia, Hy... OMIM:601216
Isolated Cleft Lip