| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (30.8%) |
29475819 |
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC. Eur J Paediatr Neurol. 2018;22(3):552-557. |
| Ptosis Blepharophimosis | ||
| ADNP | ||
| Autistic Disorder Child, Preschool Craniofacial Abnormalities Disabled Children Females Homeodomain Proteins Homo sapiens Infant Intellectual Disability Male Mutation Nerve Tissue Proteins Phenotype Syndrome | ||
| 1 (30.8%) |
28407407 |
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. Takenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K. Am J Med Genet A. 2017;173(6):1631-1634. |
| Ptosis Epicanthus inversus | ||
| ADNP | ||
| Blepharophimosis Child, Preschool Face Heterozygote Homeodomain Proteins Homo sapiens Male Mutation Nerve Tissue Proteins Phenotype Skin Abnormalities Urogenital Abnormalities | ||
| 3 (4.0%) |
29899371 |
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome. Huynh MT, Boudry-Labis E, Massard A, Thuillier C, Delobel B, Duban-Bedu B, Vincent-Delorme C. Eur J Hum Genet. 2018;26(10):1497-1501. |
| Autism | ||
| ADNP DPM1 | ||
| Autistic Disorder Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 20 Heterozygote Homeodomain Proteins Homo sapiens Intellectual Disability Male Mannosyltransferases Nerve Tissue Proteins Phenotype | ||
| 3 (4.0%) |
29780943 (5956711) |
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome. Gale MJ, Titus HE, Harman GA, Alabduljalil T, Dennis A, Wilson JL, Koeller DM, Finanger E, Blasco PA, Chiang PW, Karr DJ, Yang P. Am J Ophthalmol Case Rep. 2018;10:244-248. |
| Nystagmus | ||
| ADNP | ||
| 3 (4.0%) |
28807863 |
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray. Stipoljev F, Miric-Tesanic D, Hafner T, Barbalic M, Logara M, Lasan-Trcic R, Vicic A, Gjergja-Juraski R. Eur J Med Genet. 2017;60(11):589-594. |
| Ventriculomegaly | ||
| Adult Atrial Septal Defects Chromosome Deletion Chromosomes, Human, Pair 20 Congenital Heart Defects Differential Diagnosis Females Homeodomain Proteins Homo sapiens Lower Extremity Deformities, Congenital Nerve Tissue Proteins Phenotype Pregnancy Shab Potassium Channels Ultrasonography, Prenatal Upper Extremity Deformities, Congenital |
Total: 80
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000020 | Urinary incontinence | Very frequent (99-80%) |
| HP:0000729 | Autistic behavior | Very frequent (99-80%) |
| HP:0000735 | Impaired social interactions | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0000722 | Obsessive-compulsive behavior | Frequent (79-30%) |
| HP:0000739 | Anxiety | Frequent (79-30%) |
| HP:0001167 | Abnormality of finger | Frequent (79-30%) |
| HP:0001388 | Joint laxity | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002591 | Polyphagia | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0011343 | Moderate global developmental delay | Frequent (79-30%) |
| HP:0011344 | Severe global developmental delay | Frequent (79-30%) |
| HP:0012443 | Abnormality of brain morphology | Frequent (79-30%) |
| HP:0012450 | Chronic constipation | Frequent (79-30%) |
| HP:0025160 | Abnormal temper tantrums | Frequent (79-30%) |
| HP:0200136 | Oral-pharyngeal dysphagia | Frequent (79-30%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (29-5%) |
| HP:0000179 | Thick lower lip vermilion | Occasional (29-5%) |
| HP:0000219 | Thin upper lip vermilion | Occasional (29-5%) |
| HP:0000243 | Trigonocephaly | Occasional (29-5%) |
| HP:0000319 | Smooth philtrum | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000483 | Astigmatism | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000540 | Hypermetropia | Occasional (29-5%) |
| HP:0000718 | Aggressive behavior | Occasional (29-5%) |
| HP:0000954 | Single transverse palmar crease | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001488 | Bilateral ptosis | Occasional (29-5%) |
| HP:0001597 | Abnormality of the nail | Occasional (29-5%) |
| HP:0001780 | Abnormality of toe | Occasional (29-5%) |
| HP:0001852 | Sandal gap | Occasional (29-5%) |
| HP:0001956 | Truncal obesity | Occasional (29-5%) |
| HP:0002013 | Vomiting | Occasional (29-5%) |
| HP:0002059 | Cerebral atrophy | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002376 | Developmental regression | Occasional (29-5%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Occasional (29-5%) |
| HP:0002835 | Aspiration | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0005216 | Impaired mastication | Occasional (29-5%) |
| HP:0006288 | Advanced eruption of teeth | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0007042 | Focal white matter lesions | Occasional (29-5%) |
| HP:0008551 | Microtia | Occasional (29-5%) |
| HP:0009890 | High anterior hairline | Occasional (29-5%) |
| HP:0010442 | Polydactyly | Occasional (29-5%) |
| HP:0011342 | Mild global developmental delay | Occasional (29-5%) |
| HP:0011471 | Gastrostomy tube feeding in infancy | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
| HP:0100704 | Cerebral visual impairment | Occasional (29-5%) |
| HP:0200006 | Slanting of the palpebral fissure | Occasional (29-5%) |
| HP:0000023 | Inguinal hernia | Very rare (4-1%) |
| HP:0000028 | Cryptorchidism | Very rare (4-1%) |
| HP:0000248 | Brachycephaly | Very rare (4-1%) |
| HP:0000252 | Microcephaly | Very rare (4-1%) |
| HP:0000577 | Exotropia | Very rare (4-1%) |
| HP:0000612 | Iris coloboma | Very rare (4-1%) |
| HP:0000637 | Long palpebral fissure | Very rare (4-1%) |
| HP:0000646 | Amblyopia | Very rare (4-1%) |
| HP:0001007 | Hirsutism | Very rare (4-1%) |
| HP:0001118 | Juvenile cataract | Very rare (4-1%) |
| HP:0001156 | Brachydactyly | Very rare (4-1%) |
| HP:0001250 | Seizures | Very rare (4-1%) |
| HP:0001276 | Hypertonia | Very rare (4-1%) |
| HP:0001537 | Umbilical hernia | Very rare (4-1%) |
| HP:0002098 | Respiratory distress | Very rare (4-1%) |
| HP:0002209 | Sparse scalp hair | Very rare (4-1%) |
| HP:0004691 | 2-3 toe syndactyly | Very rare (4-1%) |
| HP:0005280 | Depressed nasal bridge | Very rare (4-1%) |
| HP:0008935 | Generalized neonatal hypotonia | Very rare (4-1%) |
| HP:0010055 | Broad hallux | Very rare (4-1%) |
| HP:0011304 | Broad thumb | Very rare (4-1%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 2 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000717 | Autism | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0012450 | Chronic constipation | 1 |
| HP:0012758 | Neurodevelopmental delay | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |