| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Hypothermia |
OMIM:614498 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
| Meningococcal Meningitis |
|
Fever, Papilledema, Hypothermia |
ORPHA:33475 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Optic atrophy, Hypothermia |
OMIM:618493 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
| Timothy Syndrome |
|
Hypothermia |
OMIM:601005 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Hypothermia |
OMIM:618775 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Optic atrophy, Hypothermia |
OMIM:618329 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:255210 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Hypothermia, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigm... |
ORPHA:79282 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia |
ORPHA:159 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
ORPHA:26793 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Hypothermia |
ORPHA:20 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia |
OMIM:251880 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia |
OMIM:608643 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Hypothermia |
ORPHA:99027 |
| Alexander Disease |
|
Hypothermia |
ORPHA:58 |
| Neuroleptic Malignant Syndrome |
|
Fever, Hypothermia |
ORPHA:94093 |
| Ethylene Glycol Poisoning |
|
Hypothermia |
ORPHA:31826 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia |
ORPHA:90674 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypothermia |
ORPHA:17 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Hypothermia |
ORPHA:226307 |
| Menkes Disease |
|
Hypothermia |
ORPHA:565 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
| Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Hypothermia |
ORPHA:293987 |
| Marburg Hemorrhagic Fever |
|
Fever, Hypothermia |
ORPHA:99826 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Hypothermia |
ORPHA:438213 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent fever, Hypothermia, Unexplained fevers |
ORPHA:642 |
| Sarcoidosis |
|
Fever, Hypothermia |
ORPHA:797 |
