| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (62.7%) |
23459408 |
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Clin Dysmorphol. 2013;22(3):109-14. |
| Lobulated tongue Short ribs Y-shaped metacarpals | ||
| Child Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Male Orofaciodigital Syndromes Polydactyly | ||
| 2 (60.5%) |
30625837 |
Anesthetic management for a pediatric patient with joubert syndrome: A case report. Lee YS, Kim WY, Kim KG, Chang MS, Kim JH, Park YC. Korean J Anesthesiol. 2009;57(1):96-99. |
| Micrognathia Protruding tongue | ||
| 3 (58.2%) |
10748413 |
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. Haug K, Khan S, Fuchs S, Konig R. Am J Med Genet. 2000;91(2):135-7. |
| Retrognathia Bilateral postaxial polydactyly Prominent forehead | ||
| Dandy-Walker Syndrome Fatal Outcome Females Homo sapiens Hydrocephalus Infant Kidney Magnetic Resonance Imaging Male Orofaciodigital Syndromes Polydactyly Syndrome | ||
| 4 (53.2%) |
11810643 |
Prenatal diagnosis of Joubert syndrome: a case report. Aslan H, Ulker V, Gulcan EM, Numanoglu C, Gul A, Agar M, Ark HC. Prenat Diagn. 2002;22(1):13-6. |
| Dandy-Walker malformation Bilateral postaxial polydactyly | ||
| Adult Cerebellum Dandy-Walker Syndrome Females Gestational Age Heart Atrium Heart Ventricle Homo sapiens Hydrocephalus Magnetic Resonance Imaging Male Polydactyly Pregnancy Respiration Syndrome Ultrasonography, Prenatal | ||
| 5 (48.8%) |
22548404 |
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Clin Genet. 2013;83(2):135-44. |
| Macrocephaly Postaxial polydactyly | ||
| OFD1 | ||
| c|SUB|G|2388+1|C | ||
| Exome Females Genetic Counseling Genetic Diseases, X-Linked Homo sapiens Male Mutation Orofaciodigital Syndromes Pregnancy Proteins RNA Splicing Sequence Analysis, DNA | ||
| 5 (48.8%) |
18454479 |
Prenatal ultrasonographic features of Joubert syndrome. Aslan H, Gungorduk K, Yildirim G, Olgac Y, Ceylan Y. J Clin Ultrasound. 2008;36(9):576-80. |
| Encephalocele Postaxial polydactyly | ||
| Adult Brain Brain Diseases Child Developmental Disabilities Females Homo sapiens Infant, Newborn Male Polydactyly Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 5 (48.8%) |
17160906 |
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Am J Hum Genet. 2007;80(1):186-94. |
| Meningoencephalocele Polydactyly | ||
| AHI1 CEP290 MKS1 NPHP1 TMEM67 | ||
| rs115563233 rs137853107 rs1554557920 rs199821258 rs267607114 rs781383498 | ||
| Brain Cerebellum Child Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 8 Females Fetus Homo sapiens Kidney Liver Male Membrane Proteins Mutation Pregnancy Proteins Syndrome | ||
| 5 (48.8%) |
9021015 |
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Kosaki K, Curry CJ, Roeder E, Jones KL. Am J Med Genet. 1997;68(4):421-7. |
| Syndactyly Dandy-Walker malformation | ||
| Adult Atrial Septal Defects Cerebellum Child, Preschool Congenital Heart Defects Corpus Callosum Dandy-Walker Syndrome Developmental Disabilities Face Females Homo sapiens Infant Infant, Newborn Male Nipples Phenotype Pregnancy | ||
| 9 (45.7%) |
17365127 |
Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome. Koutsouraki E, Markou E, Karlovasitou A, Costa V, Baloyannis S. Int J Neurosci. 2007;117(4):443-51. |
| Horizontal nystagmus Hemiatrophy | ||
| Cerebellum Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Smith-Lemli-Opitz Syndrome | ||
| 10 (39.0%) |
30611152 |
Reversible intracranial hypertension following treatment of an extracranial vascular malformation: case report. Pricola Fehnel K, Klein J, Warf BC, Smith ER, Orbach DB. J Neurosurg Pediatr. 2019;23(3):369-373. |
| Dandy-Walker malformation | ||
| CSF2 | ||
| Homo sapiens Hydrocephalus Infant Intracranial Hypertension Magnetic Resonance Angiography Magnetic Resonance Imaging Male Ventriculostomy |
Total: 37
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000657 | Oculomotor apraxia | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Very frequent (99-80%) |
| HP:0002104 | Apnea | Very frequent (99-80%) |
| HP:0002793 | Abnormal pattern of respiration | Very frequent (99-80%) |
| HP:0002876 | Episodic tachypnea | Very frequent (99-80%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0004422 | Biparietal narrowing | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001337 | Tremor | Occasional (29-5%) |
| HP:0001696 | Situs inversus totalis | Occasional (29-5%) |
| HP:0001829 | Foot polydactyly | Occasional (29-5%) |
| HP:0002084 | Encephalocele | Occasional (29-5%) |
| HP:0002126 | Polymicrogyria | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002269 | Abnormality of neuronal migration | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
Total: 69
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001251 | Ataxia | 19 |
| HP:0002104 | Apnea | 7 |
| HP:0002186 | Apraxia | 5 |
| HP:0002789 | Tachypnea | 5 |
| HP:0001305 | Dandy-Walker malformation | 4 |
| HP:0010442 | Polydactyly | 4 |
| HP:0025356 | Psychomotor retardation | 4 |
| HP:0001320 | Cerebellar vermis hypoplasia | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000589 | Coloboma | 2 |
| HP:0000639 | Nystagmus | 2 |
| HP:0000824 | Growth hormone deficiency | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001395 | Hepatic fibrosis | 2 |
| HP:0002612 | Congenital hepatic fibrosis | 2 |
| HP:0002617 | Dilatation | 2 |
| HP:0032368 | Acidemia | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000054 | Micropenis | 1 |
| HP:0000107 | Renal cyst | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000473 | Torticollis | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000541 | Retinal detachment | 1 |
| HP:0000567 | Chorioretinal coloboma | 1 |
| HP:0000580 | Pigmentary retinopathy | 1 |
| HP:0000666 | Horizontal nystagmus | 1 |
| HP:0000742 | Self-mutilation | 1 |
| HP:0000773 | Short ribs | 1 |
| HP:0001085 | Papilledema | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001270 | Motor delay | 1 |
| HP:0001274 | Agenesis of corpus callosum | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0001971 | Hypersplenism | 1 |
| HP:0002060 | Abnormality of the cerebrum | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002198 | Dilated fourth ventricle | 1 |
| HP:0002436 | Occipital meningocele | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0002871 | Central apnea | 1 |
| HP:0002876 | Episodic tachypnea | 1 |
| HP:0006136 | Bilateral postaxial polydactyly | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0007687 | Unilateral ptosis | 1 |
| HP:0010536 | Central sleep apnea | 1 |
| HP:0010808 | Protruding tongue | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0012426 | Optic disc drusen | 1 |
| HP:0025402 | Square-wave jerks | 1 |
| HP:0025589 | Cyclodeviation | 1 |
| HP:0032114 | Saccadic intrusion | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
| HP:0100543 | Cognitive impairment | 1 |
Total: 20
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| CEP120 | centrosomal protein 120 | 153241 |
| PIBF1 | progesterone immunomodulatory binding factor 1 | 10464 |
| TCTN2 | tectonic family member 2 | 79867 |
| AHI1 | Abelson helper integration site 1 | 54806 |
| TMEM67 | transmembrane protein 67 | 91147 |
| MKS1 | MKS transition zone complex subunit 1 | 54903 |
| ARL13B | ADP ribosylation factor like GTPase 13B | 200894 |
| INPP5E | inositol polyphosphate-5-phosphatase E | 56623 |
| TCTN1 | tectonic family member 1 | 79600 |
| B9D1 | B9 domain containing 1 | 27077 |
| TMEM237 | transmembrane protein 237 | 65062 |
| CEP41 | centrosomal protein 41 | 95681 |
| CPLANE1 | ciliogenesis and planar polarity effector 1 | 65250 |
| CSPP1 | centrosome and spindle pole associated protein 1 | 79848 |
| KIAA0586 | KIAA0586 | 9786 |
| CEP104 | centrosomal protein 104 | 9731 |
| KIAA0556 | KIAA0556 | 23247 |
| ARMC9 | armadillo repeat containing 9 | 80210 |
| HYLS1 | HYLS1 centriolar and ciliogenesis associated | 219844 |
| ARL3 | ADP ribosylation factor like GTPase 3 | 403 |