| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
12784304 |
A new autosomal recessive syndrome with Zellweger-like manifestations. Ahn JK, Lev D, Leshinsky-Silver E, Ginzberg M, Lerman-Sagie T. Am J Med Genet A. 2003;119A(3):352-5. |
| Micrognathia High forehead Upslanted palpebral fissure | ||
| SON | ||
| Child Child, Preschool Face Fatty Acids Females Genes, Recessive Homo sapiens Intellectual Disability Male Zellweger Syndrome | ||
| 2 (57.8%) |
22994209 |
Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case. Iwasa M, Yamagata T, Mizuguchi M, Itoh M, Matsumoto A, Hironaka M, Honda A, Momoi MY, Shimozawa N. Neuropathology. 2013;33(3):292-8. |
| Micrognathia | ||
| ABCD1 BCAP31 IDH3G PDZD4 PLXNB3 SRPK3 SSR4 | ||
| ATP-Binding Cassette Transporters Autopsy Brain DNA Developmental Disabilities Dystonia Fatal Outcome Gene Deletion Homo sapiens Infant Male Microarray Analysis Phenotype Polymerase Chain Reaction Syndrome | ||
| 3 (49.1%) |
24382371 |
Oral manifestations and dental management of a child with Zellweger syndrome. Lertsirivorakul J, Wongswadiwat M, Treesuwan P. Spec Care Dentist. 2014;34(1):46-50. |
| Microdontia Clinodactyly | ||
| Child Dental Health Services Females Homo sapiens Zellweger Syndrome | ||
| 4 (43.6%) |
9761392 |
Neuropathological findings in Moebius syndrome. Lammens M, Moerman Ph, Fryns JP, Schroder JM, Spinnewyn D, Casaer P, Dom R. Clin Genet. 1998;54(2):136-41. |
| Fetal akinesia sequence Peromelia | ||
| Brain Stem Females Homo sapiens Infant, Newborn Male Spinal Cord | ||
| 5 (40.2%) |
3183838 |
Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder. Suzuki Y, Shimozawa N, Orii T, Igarashi N, Kono N, Matsui A, Inoue Y, Yokota S, Hashimoto T. J Pediatr. 1988;113(5):841-5. |
| Large fontanelles Frontal bossing | ||
| GNPAT | ||
| Bile Acids and Salts Homo sapiens Infant, Newborn Liver Male Zellweger Syndrome | ||
| 6 (39.0%) |
12808498 |
[Zellweger syndrome. Reports on two new cases]. Caceres-Marzal C, Vaquerizo-Madrid J, Giros M, Ruiz F, Roels F. Rev Neurol. 2003;36(11):1030-4. |
| Large fontanelles | ||
| Cyst Fatal Outcome Fatty Acids Homo sapiens Infant Infant, Newborn Male Phenotype Zellweger Syndrome | ||
| 6 (39.0%) |
1456281 |
Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant. Gillar PJ, Kaye CI, Ryan SG, Moore CM. Am J Med Genet. 1992;44(2):138-41. |
| Plagiocephaly | ||
| Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 7 Face Hernia, Inguinal Homo sapiens Infant Intellectual Disability Male | ||
| 8 (32.2%) |
24030027 |
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. Kumar S, Suthar R, Sharda S, Panigrahi I, Marwaha RK. J Pediatr Endocrinol Metab. 2014;27(1-2):185-8. |
| Epiphyseal stippling | ||
| Growth Homo sapiens Infant Male Zellweger Syndrome | ||
| 8 (32.2%) |
2160110 |
[Symptomatic calcification in the newborn. Phenocopies of chondrodysplasia punctata]. Leicher-Duber A, Schumacher R, Spranger J. Rofo. 1990;152(4):463-8. |
| Epiphyseal stippling | ||
| PEX1 | ||
| 4-Hydroxycoumarins Chondrodysplasia Punctata Chromosome Aberrations Chromosomes, Human, Pair 16 Females Fetal Alcohol Spectrum Disorders Homo sapiens Infant, Newborn Male Maternal-Fetal Exchange Pregnancy Zellweger Syndrome | ||
| 10 (26.3%) |
6879587 |
[A child with Zellweger's cerebrohepatorenal syndrome]. Govaerts L, Corstiaensen J, Bakkeren J, Trujbels F, Monnens L. Tijdschr Kindergeneeskd. 1983;51(2):65-7. |
| High forehead | ||
| Chromosome Aberrations Genes, Recessive Hepatomegaly Homo sapiens Infant, Newborn Male Polycystic Kidney Diseases Psychomotor Disorders Syndrome |
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000260 | Wide anterior fontanel | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000952 | Jaundice | Very frequent (99-80%) |
| HP:0001315 | Reduced tendon reflexes | Very frequent (99-80%) |
| HP:0001399 | Hepatic failure | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001522 | Death in infancy | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0002240 | Hepatomegaly | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0006829 | Severe muscular hypotonia | Very frequent (99-80%) |
| HP:0007957 | Corneal opacity | Very frequent (99-80%) |
| HP:0008167 | Very long chain fatty acid accumulation | Very frequent (99-80%) |
| HP:0008572 | External ear malformation | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0010655 | Epiphyseal stippling | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0012736 | Profound global developmental delay | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0000003 | Multicystic kidney dysplasia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000057 | obsolete Clitoromegaly | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000532 | Abnormal chorioretinal morphology | Frequent (79-30%) |
| HP:0000627 | Posterior embryotoxon | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001622 | Premature birth | Frequent (79-30%) |
| HP:0002021 | Pyloric stenosis | Frequent (79-30%) |
| HP:0002024 | Malabsorption | Frequent (79-30%) |
| HP:0002126 | Polymicrogyria | Frequent (79-30%) |
| HP:0005469 | Flat occiput | Frequent (79-30%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Frequent (79-30%) |
| HP:0000157 | Abnormality of the tongue | Occasional (29-5%) |
| HP:0000474 | Thickened nuchal skin fold | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0001088 | Brushfield spots | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001928 | Abnormality of coagulation | Occasional (29-5%) |
| HP:0008207 | Primary adrenal insufficiency | Occasional (29-5%) |
Total: 44
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 5 |
| HP:0002240 | Hepatomegaly | 4 |
| HP:0000803 | Renal cortical cysts | 2 |
| HP:0010655 | Epiphyseal stippling | 2 |
| HP:0032368 | Acidemia | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000066 | Labial hypoplasia | 1 |
| HP:0000239 | Large fontanelles | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000348 | High forehead | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0000582 | Upslanted palpebral fissure | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0001265 | Hyporeflexia | 1 |
| HP:0001276 | Hypertonia | 1 |
| HP:0001302 | Pachygyria | 1 |
| HP:0001319 | Neonatal hypotonia | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001518 | Small for gestational age | 1 |
| HP:0001800 | Hypoplastic toenails | 1 |
| HP:0001987 | Hyperammonemia | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002375 | Hypokinesia | 1 |
| HP:0002539 | Cortical dysplasia | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0003159 | Hyperoxaluria | 1 |
| HP:0003235 | Hypermethioninemia | 1 |
| HP:0003530 | Glutaric acidemia | 1 |
| HP:0004395 | Malnutrition | 1 |
| HP:0006829 | Severe muscular hypotonia | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0012418 | Hypoxemia | 1 |
| HP:0012804 | Corneal ulceration | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0031690 | Opportunistic infection | 1 |
| HP:0100662 | Chondritis | 1 |
Total: 13
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| PEX11B | peroxisomal biogenesis factor 11 beta | 8799 |
| PEX2 | peroxisomal biogenesis factor 2 | 5828 |
| PEX1 | peroxisomal biogenesis factor 1 | 5189 |
| PEX10 | peroxisomal biogenesis factor 10 | 5192 |
| PEX12 | peroxisomal biogenesis factor 12 | 5193 |
| PEX13 | peroxisomal biogenesis factor 13 | 5194 |
| PEX14 | peroxisomal biogenesis factor 14 | 5195 |
| PEX16 | peroxisomal biogenesis factor 16 | 9409 |
| PEX19 | peroxisomal biogenesis factor 19 | 5824 |
| PEX26 | peroxisomal biogenesis factor 26 | 55670 |
| PEX3 | peroxisomal biogenesis factor 3 | 8504 |
| PEX5 | peroxisomal biogenesis factor 5 | 5830 |
| PEX6 | peroxisomal biogenesis factor 6 | 5190 |