ライフサイエンスコーパス: dysmorphism

1 um, cerebellar vermis hypoplasia, and facial dysmorphism.

2 ficant developmental delay, microcephaly and dysmorphism.

3 s such as intellectual disability and facial dysmorphism.

4 f the human genome are known to cause facial dysmorphism.

5 , congenital heart defects, and craniofacial dysmorphism.

6 skeletal and organ anomalies and mild facial dysmorphism.

7 dendritic spine dysmorphogenesis, and facial dysmorphism.

8 ity in the absence of developmental delay or dysmorphism.

9 al/tarsal fusions, deafness, and mild facial dysmorphism.

10 iated with varying degrees of midline facial dysmorphism.

11 y short stature, shortened limbs, and facial dysmorphism.

12 yroidism, T-cell immunodeficiency and facial dysmorphism.

13 ft lip and/or palate, and other craniofacial dysmorphisms.

14 roblems, epilepsy, microcephaly and physical dysmorphisms.

15 on, epilepsy and variable facial and digital dysmorphisms.

16 erol intermediates as the proximate cause of dysmorphisms.

17 , expressive language impairment, and facial dysmorphisms.

18 al, initially causing profound mitochondrial dysmorphism, aggregation of mitoribosomes, elevated mito

19 0) is characterized by short stature, facial dysmorphism and cardiac defects.

20 disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant dete

21 l deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from thos

22 linical features including mild craniofacial dysmorphism and dental anomalies.

23 ifferent species, and over-expression caused dysmorphism and developmental arrest in frogs and zebraf

24 is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3.

25 dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies.

26 cterized by patent ductus arteriosus, facial dysmorphism and hand anomalies.

27 with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome.

28 ngenital cataracts, dental anomalies, facial dysmorphism and mental retardation.

29 ongenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation.

30 closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects mapped to chromosome 1

31 le syndrome with developmental delay, facial dysmorphism, and camptodactyly.

32 characterized by short stature, craniofacial dysmorphism, and congenital heart defects.

33 poparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.

34 minant disorder characterized by PDA, facial dysmorphism, and hand anomalies.

35 survivors showing reduced size, craniofacial dysmorphism, and increased apoptosis in sciatic nerve Sc

36 Both children have cleft palate, facial dysmorphism, and mild learning disability.

37 evelopmental defects, notably cardiopathies, dysmorphism, and short stature.

38 well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities.

39 ypic variability in overall growth, physical dysmorphisms, and cancer risk in children.

40 owth retardation, spine malformation, facial dysmorphisms, and developmental delays.

41 orders), hypotonia, broad-based gait, facial dysmorphisms, and periods of fever and vomiting.

42 MT1-MMP deficiency causes craniofacial dysmorphism, arthritis, osteopenia, dwarfism, and fibros

43 Ctgf deficiency leads to skeletal dysmorphisms as a result of impaired chondrocyte prolife

44 ding profound speech delay, and craniofacial dysmorphism, as well as more varied features such as fee

45 deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis

46 (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retar

47 including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcripti

48 ude multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay.

49 al features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis,

50 individuals had abnormal respiration, facial dysmorphism, delayed motor development, or intellectual

51 ive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability

52 is nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital

53 show pleiotropic effects that include facial dysmorphism, dwarfing, male sterility, anemia, and cysti

54 causes pleiotropic effects including facial dysmorphism, dwarfing, male sterility, anemia, and progr

55 evelopmental disabilities (IDDs), and facial dysmorphism (FD)] were analyzed.

56 disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malformation

57 lular radiosensitivity, microcephaly, facial dysmorphisms, growth retardation, developmental delay, a

58 Lissencephaly without facial dysmorphism has also been observed and is referred to as

59 d "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, fro

60 liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defects.

61 talytic subunit of Polepsilon, caused facial dysmorphism, immunodeficiency, livedo, and short stature

62 that includes glaucoma and mild craniofacial dysmorphism in humans.

63 using machine learning, models human facial dysmorphisms in a multidimensional 'Clinical Face Phenot

64 The typical craniofacial dysmorphism included brachycephaly, highly arched bushy

65 etric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and nor

66 described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormal

67 D, share striking features, including facial dysmorphisms, microcephaly and short stature.

68 hildhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures.

69 iency results in a decreased growth rate and dysmorphism of the flagellar pocket and the subjacent en

70 ction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dep

71 lly developed at term and did not show overt dysmorphisms or malformations.

72 hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, a

73 eristic of these syndromes, including facial dysmorphism, periumbilical depression, mixed hearing los

74 ailure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor disability, hyperki

75 variants had multi-system disease including dysmorphism, seizures, severe developmental delay, catar

76 on of lpa(1) in mice results in craniofacial dysmorphism, semilethality due to defective suckling beh

77 raniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic shortening

78 metaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual

79 ystem features were variably seen, including dysmorphism, skeletal abnormalities, poor growth, gastro

80 as characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation.

81 ofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration.

82 als exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflux, sugg

83 esponsible for Birk Barel mental retardation dysmorphism syndrome, a maternally transmitted developme

84 including severe mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassa

85 by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and predisposit

86 Minor non-specific facial dysmorphism was also noted in some individuals, includin

87 This mutation leads to PC loss and dysmorphism, which have been suggested to cause the atax

88 d thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester a