All individuals with variants in gene FAM111A

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00435497 Pat15 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., pregnancy small for gestational age, C-section; birth 38w+0d; no language/speech delay, 19.5, but inconsistent use of words; consistent use of words 29m; motor delay, 25m-first steps; moderate intellectual disability; autism spectrum disorder; ADHD, aggression, problems in social interaction; no psychosis/schizophrenia; no use psychiatric drugs; sleep apnea; absence seizures and GTC; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; hypertelorism, synorphys, fine upper lip hair, deep set elanguage/speech delay, prominent upper nasal bridge with downturned nasal tip, short filtrum, prognathism, cheeks full (steroids), hypodontia, microdontia, wide hands, minimal hypermobility elbows, cryptorchidism; no lip/cleft palate; no hypermetropia/myopia; strabismus (exotropia); normal hearing; no recurrent ear infections; congenital heart disease (PDA); neonatal feeding difficulties, admitted to NICU for 8d for feeding difficulties; gastroesophageal reflux; constipation; on ketogenic diet; no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; admitted for pneumonia and was given dose of antibiotics which showed a "transformative improvement " in cognition/behavior after antibiotic administration. Dad describes change as using more words, longer attention span. Only temporary. He then received a steroid transfusion which again showed huge improvement which gradually wears off. He is now on oral prednisone, he gets crushed prednisone every 3 days, shown to have huge improvements to cognition and then he regresses back to his baseline. NYU plan is to bring him back in and do a few rounds of steroid pulse therapy. 1 1 Johan den Dunnen
00453415 FamPat1 PubMed: Bonde 2025 - F yes - - - - - - KCS2 Abnormality of the face, microdontia of primary teeth, high hypermetropia, astigmatism, fully accommodative esotropia, strabismus, short stature, relative macrocephaly, pectus carinatum, thoracic scoliosis, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, slender long bones, delayed skeletal maturation, thin skin, sparse scalp hair, sparse eyebrows, nail dysplasia,high pitched voice, hypernasal speech, pulmonary hypoplasia, anemia, thrombocytosis, reduced circulating growth hormone concentration, decreased response to growth hormone stimulation test 1 2 Frederike Leonie Harms
00453416 FamPat2 PubMed: Bonde 2025 - M yes - - - - - - KCS2 Abnormality of the face, high hypermetropia, astigmatism, fully accommodative esotropia, short stature, dolichocephaly, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, delayed skeletal maturation, hypermelanotic macule, sparse scalp hair, sparse eyebrows, nail dysplasia, high pitched voice, nasal speech, micropenis, cryptorchidism, anemia, thrombocytosis 1 1 Frederike Leonie Harms
00468278 - - - F - - (not applicable) white - - - - ? HP:0001954, HP:0004691, HP:0001511, HP:0000158, HP:0000455, HP:0000490, HP:0000319, HP:0001399 1 1 Marketa Wayhelova
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.