| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
30637988 |
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. Abdel-Hamid MS, El-Dessouky SH, Ateya MI, Gaafar HM, Abdel-Salam GMH. Am J Med Genet A. 2019;179(3):494-497. |
| Microcephaly | ||
| CSF2 NDE1 STIL | ||
| c|SUB|G|54|A p|SUB|W|18|* | ||
| Adult Chromosome Mapping DNA Mutational Analysis Females Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Hydranencephaly Magnetic Resonance Imaging Male Microcephaly Microtubule-Associated Proteins Mutation Phenotype Ultrasonography | ||
| 1 (39.0%) |
27790130 (5073785) |
A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed. Eda S, Terai T, Nishikawa Y, Tonari M, Kida T, Oku H, Sugasawa J, Shimakawa S, Hasegawa M, Ogihara T, Ikeda T. Case Rep Ophthalmol. 2016;7(3):142-147. |
| Microcephaly | ||
| 1 (39.0%) |
26914330 (4767410) |
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. Sarno M, Sacramento GA, Khouri R, do Rosario MS, Costa F, Archanjo G, Santos LA, Nery N Jr, Vasilakis N, Ko AI, de Almeida AR. PLoS Negl Trop Dis. 2016;10(2):e0004517. |
| Microcephaly | ||
| Females Homo sapiens Hydranencephaly Hydrops Fetalis Pregnancy Stillbirth Young Adult Zika Virus Zika Virus Infection | ||
| 1 (39.0%) |
25165052 (4157378) |
Volumetric analysis of cerebrospinal fluid and brain parenchyma in a patient with hydranencephaly and macrocephaly--case report. Rado M, Klarica M, Muic-Pucic B, Nikic I, Ragu M, Galkowski V, Mandic D, Orekovic D. Croat Med J. 2014;55(4):388-93. |
| Macrocephaly | ||
| Adult Brain Females Homo sapiens Hydranencephaly Macrocephaly Magnetic Resonance Imaging Persistent Vegetative State | ||
| 1 (39.0%) |
18702566 |
Fowler syndrome presenting as a Dandy-Walker malformation: a second case report. Al-Adnani M, Kiho L, Scheimberg I. Pediatr Dev Pathol. 2009;12(1):68-72. |
| Dandy-Walker malformation | ||
| Adult Blood Vessel Dandy-Walker Syndrome Females Homo sapiens Hydranencephaly Hydrocephalus Male Pregnancy | ||
| 1 (39.0%) |
18084237 |
Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? Watts P, Kumar N, Ganesh A, Sastry P, Pilz D, Levin AV, Chitayat D. Eye (Lond). 2008;22(5):730-3. |
| Microcephaly | ||
| Brain Diseases Calcinosis Differential Diagnosis Females Homo sapiens Hydranencephaly Infant Infant, Newborn Retinal Dysplasia Syndrome X-Ray Computed Tomography | ||
| 1 (39.0%) |
11559908 |
Fetal magnetic resonance imaging (MRI) of ischemic brain injury. de Laveaucoupet J, Audibert F, Guis F, Rambaud C, Suarez B, Boithias-Guerot C, Musset D. Prenat Diagn. 2001;21(9):729-36. |
| Microcephaly | ||
| Brain Cerebral Hemorrhage Females Fetal Diseases Fetus Homo sapiens Hypoxia-Ischemia, Brain Magnetic Resonance Imaging Male Pregnancy | ||
| 1 (39.0%) |
10762554 |
The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Kavaslar GN, Onengut S, Derman O, Kaya A, Tolun A. Am J Hum Genet. 2000;66(5):1705-9. |
| Microcephaly | ||
| Body Height Body Weight Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 16 Fatal Outcome Females Genes, Recessive Haplotypes Heterozygote Homo sapiens Hydranencephaly Infant Lod Score Male Microcephaly Odds Ratio | ||
| 1 (39.0%) |
10716747 |
Central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps. Sergi C, Schmitt HP. Teratology. 2000;61(4):284-90. |
| Microcephaly | ||
| Autopsy Brain Diseases in Twins Fetal Death Fetal Heart Homo sapiens Infant, Newborn Male Spinal Cord | ||
| 1 (39.0%) |
6417348 |
Ocular, naso-maxillary, and neural anomalies in raccoons, Procyon lotor (L.). Render JA, Kazacos EA, Kazacos KR, Vestre WA, Carlton WW. J Wildl Dis. 1983;19(3):234-43. |
| Meningoencephalocele | ||
| Animals Central Nervous System Eye Eye Abnormalities Females Male Maxilla Nose Raccoons Spinal Cord |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000618 | Blindness | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
| HP:0008610 | Infantile sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
| HP:0010994 | Abnormal corpus striatum morphology | Very frequent (99-80%) |
| HP:0000601 | Hypotelorism | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001254 | Lethargy | Frequent (79-30%) |
| HP:0001264 | Spastic diplegia | Frequent (79-30%) |
| HP:0001287 | Meningitis | Frequent (79-30%) |
| HP:0002179 | Opisthotonus | Frequent (79-30%) |
| HP:0006698 | Dilatation of the ventricular cavity | Frequent (79-30%) |
| HP:0007023 | Antenatal intracerebral hemorrhage | Frequent (79-30%) |
| HP:0009145 | Abnormal cerebral artery morphology | Frequent (79-30%) |
| HP:0010652 | Abnormal dura mater morphology | Frequent (79-30%) |
| HP:0011328 | Abnormality of fontanelles | Frequent (79-30%) |
| HP:0025040 | Thalamic edema | Frequent (79-30%) |
| HP:0025099 | Dysgenesis of the thalamus | Frequent (79-30%) |
| HP:0025258 | Stiff neck | Frequent (79-30%) |
| HP:0025517 | Hypoplastic hippocampus | Frequent (79-30%) |
| HP:0410279 | Atrophic pituitary gland | Frequent (79-30%) |
| HP:3000062 | Abnormal internal carotid artery morphology | Frequent (79-30%) |
| HP:0000533 | Chorioretinal atrophy | Occasional (29-5%) |
| HP:0000609 | Optic nerve hypoplasia | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0011451 | Congenital microcephaly | Occasional (29-5%) |
| HP:0000504 | Abnormality of vision | Excluded (0%) |
| HP:0001265 | Hyporeflexia | Excluded (0%) |
| HP:0010653 | Abnormality of the falx cerebri | Excluded (0%) |
Total: 50
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000238 | Hydrocephalus | 14 |
| HP:0001321 | Cerebellar hypoplasia | 5 |
| HP:0006882 | Severe hydrocephalus | 5 |
| HP:0040197 | Encephalomalacia | 4 |
| HP:0000252 | Microcephaly | 3 |
| HP:0001250 | Seizures | 2 |
| HP:0001298 | Encephalopathy | 2 |
| HP:0002059 | Cerebral atrophy | 2 |
| HP:0002304 | Akinesia | 2 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000161 | Median cleft lip | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001052 | Nevus flammeus | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001274 | Agenesis of corpus callosum | 1 |
| HP:0001302 | Pachygyria | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001662 | Bradycardia | 1 |
| HP:0001748 | Polysplenia | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002076 | Migraine | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0005521 | Disseminated intravascular coagulation | 1 |
| HP:0006872 | Cerebral hypoplasia | 1 |
| HP:0006888 | Meningoencephalocele | 1 |
| HP:0007731 | Chorioretinal dysplasia | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0011102 | Ileal atresia | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0012474 | Carotid artery occlusion | 1 |
| HP:0012521 | Optic nerve aplasia | 1 |
| HP:0012642 | Cerebellar agenesis | 1 |
| HP:0030769 | Exencephaly | 1 |
| HP:0032061 | Hypereosinophilia | 1 |
| HP:0100021 | Cerebral palsy | 1 |