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1 iated with varying degrees of midline facial dysmorphism.
2 yroidism, T-cell immunodeficiency and facial dysmorphism.
3 able intellectual disability and mild facial dysmorphism.
4 llosum, growth retardation, and craniofacial dysmorphism.
5  thrive, intellectual disability, and facial dysmorphism.
6 ntribute to clinically observed craniofacial dysmorphism.
7 orpus callosum and various degrees of facial dysmorphism.
8 oral abnormalities, hearing loss, and facial dysmorphism.
9 havioral abnormalities, epilepsy, and facial dysmorphism.
10 d by short stature, speech delay, and facial dysmorphism.
11 r with structural brain anomalies and facial dysmorphism.
12  anterior body-wall anomalies, and/or facial dysmorphism.
13 mental delay, microcephaly, micrognathia and dysmorphism.
14 rder associated with mild facial and digital dysmorphism.
15 aracterized by ID, short stature, and facial dysmorphism.
16 y, behavioral disorders, and variable facial dysmorphism.
17 skeletal and organ anomalies and mild facial dysmorphism.
18 y short stature, shortened limbs, and facial dysmorphism.
19 um, cerebellar vermis hypoplasia, and facial dysmorphism.
20 ficant developmental delay, microcephaly and dysmorphism.
21  disorders; growth abnormalities; and facial dysmorphism.
22 s such as intellectual disability and facial dysmorphism.
23 f the human genome are known to cause facial dysmorphism.
24 ion, microcephaly, and variable craniofacial dysmorphism.
25 , congenital heart defects, and craniofacial dysmorphism.
26 dendritic spine dysmorphogenesis, and facial dysmorphism.
27 ity in the absence of developmental delay or dysmorphism.
28 al/tarsal fusions, deafness, and mild facial dysmorphism.
29 ual disability with contrasting craniofacial dysmorphisms.
30  although with different facial features and dysmorphisms.
31 mental epileptic encephalopathy and physical dysmorphisms.
32 neurodevelopmental delay and variable facial dysmorphisms.
33 elative microcephaly, and shared mild facial dysmorphisms.
34 genital anomalies with characteristic facial dysmorphisms.
35  early-onset autoimmunity, inflammation, and dysmorphisms.
36 ures, behavioral abnormalities, and variable dysmorphisms.
37 se syndromes, they lack their typical facial dysmorphisms.
38 ellar ataxia, cerebellar atrophy, and facial dysmorphisms.
39 , expressive language impairment, and facial dysmorphisms.
40 ft lip and/or palate, and other craniofacial dysmorphisms.
41 roblems, epilepsy, microcephaly and physical dysmorphisms.
42 on, epilepsy and variable facial and digital dysmorphisms.
43 erol intermediates as the proximate cause of dysmorphisms.
44 linical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and ele
45 rment, with altered muscle tone (14/22); (d) dysmorphisms (13/20).
46 pilepsy (50%), limb spasticity (51%), facial dysmorphism (38%) and death before reaching adulthood (1
47 ment (98%), movement disorders (97%), facial dysmorphism (95%) and mild cerebellar ataxia (85%) assoc
48 l phenotypes featuring cognitive impairment, dysmorphism, abnormal behavior, variable epilepsy, white
49 al, initially causing profound mitochondrial dysmorphism, aggregation of mitoribosomes, elevated mito
50 y, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities.
51 0) is characterized by short stature, facial dysmorphism and cardiac defects.
52 disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant dete
53 l deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from thos
54 linical features including mild craniofacial dysmorphism and dental anomalies.
55 ifferent species, and over-expression caused dysmorphism and developmental arrest in frogs and zebraf
56  is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3.
57 dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies.
58 cterized by patent ductus arteriosus, facial dysmorphism and hand anomalies.
59  with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome.
60 ngenital cataracts, dental anomalies, facial dysmorphism and mental retardation.
61 irment, seizures, microcephaly, craniofacial dysmorphism and midbrain defects accompanied by developm
62 ild extra-uterine growth retardation, facial dysmorphism and severe congenital neutropenia.
63 y in adult polyglucosan body disease, facial dysmorphism and skeletal anomalies in cerebrotendinous x
64 nd in individuals with short stature, facial dysmorphism and skeletal anomalies with or without cardi
65 ongenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation.
66                                              Dysmorphisms and behavioral and/or psychiatric condition
67 to the mechanism underlying the craniofacial dysmorphisms and cleft palate present in CSC-KT patients
68    Additionally, cortical visual impairment, dysmorphisms and cortical atrophy were exclusive to this
69 closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects mapped to chromosome 1
70 Although the individuals presented here have dysmorphisms and some clinical overlap with these syndro
71 lasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the s
72 individuals have severe developmental delay, dysmorphism, and brain abnormalities; variability associ
73 le syndrome with developmental delay, facial dysmorphism, and camptodactyly.
74 characterized by short stature, craniofacial dysmorphism, and congenital heart defects.
75 poparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.
76 minant disorder characterized by PDA, facial dysmorphism, and hand anomalies.
77 survivors showing reduced size, craniofacial dysmorphism, and increased apoptosis in sciatic nerve Sc
78  associated with developmental delay, facial dysmorphism, and intellectual disability.
79 ental delay, intellectual disability, facial dysmorphism, and microcephaly.
80      Both children have cleft palate, facial dysmorphism, and mild learning disability.
81 bnormalities such as angry outbursts, facial dysmorphism, and ophthalmological abnormalities.
82 evelopmental defects, notably cardiopathies, dysmorphism, and short stature.
83 well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities.
84 , feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations.
85 ypic variability in overall growth, physical dysmorphisms, and cancer risk in children.
86 delay and/or intellectual disability, facial dysmorphisms, and congenital anomalies.
87 owth retardation, spine malformation, facial dysmorphisms, and developmental delays.
88 letal dysplasia, short stature, craniofacial dysmorphisms, and incompletely penetrant heart and palat
89 al heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in f
90 ive speech development, ASD features, facial dysmorphisms, and other variable features.
91 orders), hypotonia, broad-based gait, facial dysmorphisms, and periods of fever and vomiting.
92  disturbance, cerebellar atrophy, and facial dysmorphisms, and suggesting a recognizable syndrome.
93 progressive spastic paraparesis, dysarthria, dysmorphisms, and white matter abnormalities, with some
94       MT1-MMP deficiency causes craniofacial dysmorphism, arthritis, osteopenia, dwarfism, and fibros
95 n defects, including microcephaly and facial dysmorphism as well as foot syndactyly, renal agenesis,
96            Ctgf deficiency leads to skeletal dysmorphisms as a result of impaired chondrocyte prolife
97 ding profound speech delay, and craniofacial dysmorphism, as well as more varied features such as fee
98 abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder) a
99 nd/or intellectual disability, subtle facial dysmorphisms, behavioral and psychiatric problems.
100 deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis
101 atients with ultra-rare disorders and facial dysmorphism but also enable the delineation of new pheno
102 diagnosis, treatment, and management of this dysmorphism, but also permits us to contribute to the de
103 (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retar
104 including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcripti
105 ude multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay.
106 al features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis,
107                                       Facial dysmorphism, clubfeet and multiple joint contractures we
108 we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syn
109 hortening of the limbs, contractures, facial dysmorphism, congenital cataracts, ichthyosis, spasticit
110 ren had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelina
111 ctivity disorder (ADHD), autism, mild facial dysmorphism, craniosynostosis, and multiple osteochondro
112 individuals had abnormal respiration, facial dysmorphism, delayed motor development, or intellectual
113 ive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability
114 order characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasi
115 is nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital
116 show pleiotropic effects that include facial dysmorphism, dwarfing, male sterility, anemia, and cysti
117  causes pleiotropic effects including facial dysmorphism, dwarfing, male sterility, anemia, and progr
118 ng developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and
119 evelopmental disabilities (IDDs), and facial dysmorphism (FD)] were analyzed.
120  disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malformation
121 lular radiosensitivity, microcephaly, facial dysmorphisms, growth retardation, developmental delay, a
122                 Lissencephaly without facial dysmorphism has also been observed and is referred to as
123 tion syndrome is associated with mild facial dysmorphism, heart defects, language delay, and autism s
124 d "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, fro
125 novo KCNK4 mutations in subjects with facial dysmorphism, hypertrichosis, epilepsy, ID, and gingival
126  liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defects.
127 ntellectual disability, microcephaly, facial dysmorphisms, hypotonia, and/or ataxia.
128 talytic subunit of Polepsilon, caused facial dysmorphism, immunodeficiency, livedo, and short stature
129 that includes glaucoma and mild craniofacial dysmorphism in humans.
130 6mA and causes sublethality and craniofacial dysmorphism in incross progeny.
131  using machine learning, models human facial dysmorphisms in a multidimensional 'Clinical Face Phenot
132 able neurological features and subtle facial dysmorphisms in patients.
133  severe ID, microcephaly, and various facial dysmorphisms, in an autosomal-recessive fashion.
134                     The typical craniofacial dysmorphism included brachycephaly, highly arched bushy
135                                    Recurrent dysmorphisms included a broad forehead, synophrys, and d
136 m nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as w
137          Two individuals shared craniofacial dysmorphisms, including congenital microcephaly, that we
138 etric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and nor
139                                 Craniofacial dysmorphism is associated with thousands of genetic and
140 lf-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial polydacty
141 described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormal
142        Clinical features also include facial dysmorphism, microcephaly, short stature, musculoskeleta
143 D, share striking features, including facial dysmorphisms, microcephaly and short stature.
144 l delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic fea
145 antly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral
146 hildhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures.
147 iency results in a decreased growth rate and dysmorphism of the flagellar pocket and the subjacent en
148 sting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disabilit
149 ction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dep
150 lly developed at term and did not show overt dysmorphisms or malformations.
151  hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, a
152 eristic of these syndromes, including facial dysmorphism, periumbilical depression, mixed hearing los
153 S) is a congenital disorder featuring facial dysmorphism, postnatal growth deficits, cognitive disabi
154        The FASD manifests mostly with facial dysmorphism, prenatal and postnatal growth retardation,
155 ailure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor disability, hyperki
156  variants had multi-system disease including dysmorphism, seizures, severe developmental delay, catar
157 on of lpa(1) in mice results in craniofacial dysmorphism, semilethality due to defective suckling beh
158 raniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic shortening
159  with different clinical presentations, with dysmorphisms, severity, and age of onset of cytopenia an
160 metaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual
161 ly variable symptoms, such as typical facial dysmorphisms, short stature, developmental delay, intell
162               Other features included facial dysmorphism, skeletal abnormalities and mild learning di
163 ystem features were variably seen, including dysmorphism, skeletal abnormalities, poor growth, gastro
164 as characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation.
165 ofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration.
166 als exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflux, sugg
167 esponsible for Birk Barel mental retardation dysmorphism syndrome, a maternally transmitted developme
168  including severe mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassa
169 by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and predisposit
170                    Minor non-specific facial dysmorphism was also noted in some individuals, includin
171                                       Facial dysmorphism was an integral part of the phenotype, with
172                                       Facial dysmorphism was seen in both groups and included upslant
173  to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychi
174           This mutation leads to PC loss and dysmorphism, which have been suggested to cause the atax
175 d thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester a
176 ia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose).
177           Affected individuals showed facial dysmorphism with coarse face, upslanted palpebral fissur

 
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