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Items: 7

1.

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies. [from GeneReviews]

MedGen UID:
1656239
Concept ID:
C4750837
Disease or Syndrome
2.

Chromosome 17P13.3, telomeric, duplication syndrome

MedGen UID:
390813
Concept ID:
C2675492
Disease or Syndrome
3.

Intellectual disability, autosomal recessive 65

MedGen UID:
1648401
Concept ID:
C4748219
Mental or Behavioral Dysfunction
4.

Intellectual disability, autosomal dominant 57

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018). [from OMIM]

MedGen UID:
1648280
Concept ID:
C4748003
Mental or Behavioral Dysfunction
5.

Hoxha-Aliu syndrome

Hoxha-Aliu syndrome (HXAL) is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet (Hoxha and Aliu, 2023; Guo et al., 2023). Biallelic missense mutations in the ERI1 gene have been reported to cause a more severe bone disorder, spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC; 620663). [from OMIM]

MedGen UID:
1846017
Concept ID:
C5882736
Disease or Syndrome
6.

Vertebral anomalies and variable endocrine and T-cell dysfunction

Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018). [from OMIM]

MedGen UID:
1648299
Concept ID:
C4748741
Disease or Syndrome
7.

Contracture of the proximal interphalangeal joint of the 4th finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [from HPO]

MedGen UID:
867145
Concept ID:
C4021503
Anatomical Abnormality
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