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1 able behavioral abnormalities, epilepsy, and facial dysmorphism.
2 cterized by short stature, speech delay, and facial dysmorphism.
3 disorder with structural brain anomalies and facial dysmorphism.
4 ariable anterior body-wall anomalies, and/or facial dysmorphism.
5 rome characterized by ID, short stature, and facial dysmorphism.
6 sability, behavioral disorders, and variable facial dysmorphism.
7 luding skeletal and organ anomalies and mild facial dysmorphism.
8 rized by short stature, shortened limbs, and facial dysmorphism.
9  callosum, cerebellar vermis hypoplasia, and facial dysmorphism.
10 features such as intellectual disability and facial dysmorphism.
11 ovement disorders; growth abnormalities; and facial dysmorphism.
12 iants of the human genome are known to cause facial dysmorphism.
13 ancer, dendritic spine dysmorphogenesis, and facial dysmorphism.
14 m, carpal/tarsal fusions, deafness, and mild facial dysmorphism.
15 o associated with varying degrees of midline facial dysmorphism.
16 oparathyroidism, T-cell immunodeficiency and facial dysmorphism.
17 to variable intellectual disability and mild facial dysmorphism.
18 lure to thrive, intellectual disability, and facial dysmorphism.
19 m and corpus callosum and various degrees of facial dysmorphism.
20  behavioral abnormalities, hearing loss, and facial dysmorphism.
21 ly or relative microcephaly, and shared mild facial dysmorphisms.
22  of congenital anomalies with characteristic facial dysmorphisms.
23 ith these syndromes, they lack their typical facial dysmorphisms.
24 , cerebellar ataxia, cerebellar atrophy, and facial dysmorphisms.
25 ability, expressive language impairment, and facial dysmorphisms.
26 ing of neurodevelopmental delay and variable facial dysmorphisms.
27 stent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14),
28  with epilepsy (50%), limb spasticity (51%), facial dysmorphism (38%) and death before reaching adult
29  impairment (98%), movement disorders (97%), facial dysmorphism (95%) and mild cerebellar ataxia (85%
30 al delay, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities.
31 M 163950) is characterized by short stature, facial dysmorphism and cardiac defects.
32 ectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 varia
33 atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ fr
34 yndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at X
35 l head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies.
36 t characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies.
37 ociated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome.
38 eral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation.
39  with mild extra-uterine growth retardation, facial dysmorphism and severe congenital neutropenia.
40 uropathy in adult polyglucosan body disease, facial dysmorphism and skeletal anomalies in cerebrotend
41 drome and in individuals with short stature, facial dysmorphism and skeletal anomalies with or withou
42 ed by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardatio
43 y late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects mapped to chrom
44 al dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings o
45 ognizable syndrome with developmental delay, facial dysmorphism, and camptodactyly.
46 ital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.
47 omal dominant disorder characterized by PDA, facial dysmorphism, and hand anomalies.
48 ndrome, associated with developmental delay, facial dysmorphism, and intellectual disability.
49 evelopmental delay, intellectual disability, facial dysmorphism, and microcephaly.
50             Both children have cleft palate, facial dysmorphism, and mild learning disability.
51 ioral abnormalities such as angry outbursts, facial dysmorphism, and ophthalmological abnormalities.
52 failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malform
53 mental delay and/or intellectual disability, facial dysmorphisms, and congenital anomalies.
54 d by growth retardation, spine malformation, facial dysmorphisms, and developmental delays.
55 ongenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especial
56 regressive speech development, ASD features, facial dysmorphisms, and other variable features.
57 ety disorders), hypotonia, broad-based gait, facial dysmorphisms, and periods of fever and vomiting.
58 h sleep disturbance, cerebellar atrophy, and facial dysmorphisms, and suggesting a recognizable syndr
59 ltiorgan defects, including microcephaly and facial dysmorphism as well as foot syndactyly, renal age
60  tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity diso
61 delay and/or intellectual disability, subtle facial dysmorphisms, behavioral and psychiatric problems
62 growth deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, ag
63 is of patients with ultra-rare disorders and facial dysmorphism but also enable the delineation of ne
64 stics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a tran
65 lopmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynos
66                                              Facial dysmorphism, clubfeet and multiple joint contract
67  Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis
68 ximal shortening of the limbs, contractures, facial dysmorphism, congenital cataracts, ichthyosis, sp
69 e children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypo
70 /hyperactivity disorder (ADHD), autism, mild facial dysmorphism, craniosynostosis, and multiple osteo
71 , some individuals had abnormal respiration, facial dysmorphism, delayed motor development, or intell
72  extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual dis
73 ive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal d
74 nimals show pleiotropic effects that include facial dysmorphism, dwarfing, male sterility, anemia, an
75 t, that causes pleiotropic effects including facial dysmorphism, dwarfing, male sterility, anemia, an
76 omprising developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ata
77 al or developmental disabilities (IDDs), and facial dysmorphism (FD)] were analyzed.
78 eletion disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malfo
79 sed cellular radiosensitivity, microcephaly, facial dysmorphisms, growth retardation, developmental d
80                        Lissencephaly without facial dysmorphism has also been observed and is referre
81 duplication syndrome is associated with mild facial dysmorphism, heart defects, language delay, and a
82 es (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal brid
83  on de novo KCNK4 mutations in subjects with facial dysmorphism, hypertrichosis, epilepsy, ID, and gi
84 ciency, liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defect
85 elay, intellectual disability, microcephaly, facial dysmorphisms, hypotonia, and/or ataxia.
86  the catalytic subunit of Polepsilon, caused facial dysmorphism, immunodeficiency, livedo, and short
87 hs and, using machine learning, models human facial dysmorphisms in a multidimensional 'Clinical Face
88 er variable neurological features and subtle facial dysmorphisms in patients.
89 rate to severe ID, microcephaly, and various facial dysmorphisms, in an autosomal-recessive fashion.
90 ity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial po
91 iously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment a
92               Clinical features also include facial dysmorphism, microcephaly, short stature, musculo
93  and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature.
94 de in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures
95 r consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual di
96 bility, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculome
97 characteristic of these syndromes, including facial dysmorphism, periumbilical depression, mixed hear
98 me (CdLS) is a congenital disorder featuring facial dysmorphism, postnatal growth deficits, cognitive
99               The FASD manifests mostly with facial dysmorphism, prenatal and postnatal growth retard
100 zable craniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic sho
101 dyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intell
102 linically variable symptoms, such as typical facial dysmorphisms, short stature, developmental delay,
103                      Other features included facial dysmorphism, skeletal abnormalities and mild lear
104 ndividuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflu
105 alities including severe mental retardation, facial dysmorphism, urogenital abnormalities and alpha-t
106 erized by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and pred
107                           Minor non-specific facial dysmorphism was also noted in some individuals, i
108                                              Facial dysmorphism was an integral part of the phenotype
109                                              Facial dysmorphism was seen in both groups and included
110 ddition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex
111 h marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trim
112 hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose)
113                  Affected individuals showed facial dysmorphism with coarse face, upslanted palpebral

 
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