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Items: 4

  • Wrong UID 430049
1.

Koolen-de Vries syndrome

The KANSL1-related intellectual disability syndrome is characterized by developmental delay/intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Global psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with the KANSL1-related intellectual disability syndrome function in the mild to moderate range of intellectual disability. Other findings include epilepsy (55%), congenital heart defects (39%), renal and urologic anomalies (37%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative. [from GeneReviews]

MedGen UID:
355853
Concept ID:
C1864871
Disease or Syndrome
2.

Pseudopili annulati

Pseudopili annulati is an unusual variant of normal hair characterized by a banded appearance of the hair under reflective light, as observed in pili annulati (180600), but resulting from a distinct underlying physical defect. There is no increased hair fragility (Price et al., 1970). [from OMIM]

MedGen UID:
461813
Concept ID:
C3150463
Finding
3.

Odontotrichoungual-digital-palmar syndrome

This syndrome has characteristics of neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. [from SNOMEDCT_US]

MedGen UID:
400891
Concept ID:
C1865998
Disease or Syndrome
4.

Zlotogora Ogur syndrome

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. [from SNOMEDCT_US]

MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
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