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1 callosum, cerebellar vermis hypoplasia, and facial dysmorphism.
2 features such as intellectual disability and facial dysmorphism.
3 iants of the human genome are known to cause facial dysmorphism.
4 ancer, dendritic spine dysmorphogenesis, and facial dysmorphism.
5 luding skeletal and organ anomalies and mild facial dysmorphism.
6 m, carpal/tarsal fusions, deafness, and mild facial dysmorphism.
7 o associated with varying degrees of midline facial dysmorphism.
8 oparathyroidism, T-cell immunodeficiency and facial dysmorphism.
9 rized by short stature, shortened limbs, and facial dysmorphism.
10 ability, expressive language impairment, and facial dysmorphisms.
12 ectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 varia
13 atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ fr
14 yndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at X
17 ociated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome.
19 ed by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardatio
20 y late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects mapped to chrom
26 ety disorders), hypotonia, broad-based gait, facial dysmorphisms, and periods of fever and vomiting.
27 growth deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, ag
28 stics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a tran
29 lopmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynos
30 , some individuals had abnormal respiration, facial dysmorphism, delayed motor development, or intell
31 extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual dis
32 nimals show pleiotropic effects that include facial dysmorphism, dwarfing, male sterility, anemia, an
33 t, that causes pleiotropic effects including facial dysmorphism, dwarfing, male sterility, anemia, an
35 eletion disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malfo
36 sed cellular radiosensitivity, microcephaly, facial dysmorphisms, growth retardation, developmental d
38 es (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal brid
39 ciency, liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defect
40 the catalytic subunit of Polepsilon, caused facial dysmorphism, immunodeficiency, livedo, and short
41 hs and, using machine learning, models human facial dysmorphisms in a multidimensional 'Clinical Face
42 iously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment a
44 de in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures
45 bility, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculome
46 characteristic of these syndromes, including facial dysmorphism, periumbilical depression, mixed hear
47 zable craniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic sho
48 dyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intell
49 ndividuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflu
50 alities including severe mental retardation, facial dysmorphism, urogenital abnormalities and alpha-t
51 erized by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and pred
53 h marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trim
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