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Table 1 Deep dysmorphological phenotyping after clinical evaluation of the 5 patients presented here

From: Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

 Patient 1Patient 2Patient 3Patient 4Patient 5Total
Variant’s genomic position8:417923538:417920988:417923108:418348148:41791480 
cDNA changec.3385C > Tc.3640A > Tc.3427_3428insTAc.1075G > Ac.4254_4257 delTGAG 
Protein changep.(Arg1129*)p.(Lys1214*)p.(Ser1143 Leufs*5)p.Gly359Ser (p.Pro509 Thrfs*11)p.(Glu1419 Trpfs*12) 
Exon17/1717/1717/177/1717/17 
InheritanceDe novoDe novoDe novoDe novoDe novo5 de novo
dbSNPrs786200960 
GnomAD1/250564 
ClinVarPathogenic 
Current age (years)161198610 av
GenderMaleMaleFemaleMaleFemale2F/3M
Ethnicity (country of origin)Caucasian (Spain)Caucasian (Spain)Caucasian (Spain)Caucasian (Spain)Chinese (China) 
Neurological
 Global developmental delay (HP:0001263)/ Intellectual disability (HP:0001249)+ (severe)++++5/5
 Autistic behaviour (HP:0007229)NE+++3/4
 Speech delay (HP:0000750)+++++5/5
 Seizures (HP:0001250)+++3/5
 Sleep disturbance (HP:0002360)++2/5
 Hypotonia (HP:0001290)++2/5
 Stereotypy (HP:0000733)++++4/5
 Lower limb hypertonia (HP:0006895)+++3/5
 Unstable gait (HP:0002141)+++++5/5
Craniofacial
 Microcephaly (HP:0000252)+++++5/5
 Triangular face (HP:0000325)++++4/5
 Long face (HP:0000276)++++4/5
 Facial asymmetry (HP:0000324)++ (mild)2/5
 Frontal bossing (HP:0002007)++ (central)2/5
 Midface retrusion (HP:0011800)+++3/5
 Sparse medial eyebrows (HP:0025325)+++++5/5
 Arched eyebrows (HP:0002553)+++++5/5
 Thin eyebrows (HP:0045074)+++3/5
 Swollen skin on the upper eyelids (HP:0012724)+1/5
 Epicanthal folds (HP:0000286)+ (mild)++3/5
 Proptosis (HP:0000520)++ (mild)2/5
 Deep set eyes (HP:0000490)++2/5
 High nasal bridge (HP:0000426)++2/5
 Broad nasal tip (HP:0000455)++++4/5
 Bifid nasal tip (HP:0000456)+++3/5
 Prominent columella (HP:0009765)+1/5
 Low-set ears (HP:0000369)++++4/5
 Anteverted ears (HP:0040080)++2/5
 Prominent antihelix (HP:0000395)+++++5/5
 Prominent antitragus (HP:0008593)++ (mild)+3/5
 Hypoplastic tragus (HP:0011272)++2/5
 Small earlobe (HP:0000385)++ (mild)+ (mild)3/5
 Short philtrum (HP:0000322)++ (mild)2/5
 Small mouth (HP:0000160)++2/5
 Wide mouth (HP:0000154)++2/5
 Prognathism (HP:0000303)++2/5
 Pointed chin (HP:0000307)++ (mild)+3/5
Ocular
 Convergent strabismus (HP:0000565)+ (left eye)++ (left eye)+4/5
 Astigmatism (HP:0000483)++2/5
 Myopia (HP:0000545)++2/5
 Amblyopia (HP:0000646)++2/5
 Nasolacrimal stenosis (HP:0000579)++2/5
 Conjunctivitis (HP:0000509)+1/5
Thorax & Abdomen
 Long thorax (HP:0100818)+++++5/5
 Narrow thorax (HP:0000774)+++++5/5
 Asymmetric chest (HP:0001555)pectus excavatum0/5
 Wide intermamillary distance (HP:0006610)+++ (mild)+ (mild)+5/5
 Low-set nipples (HP:0002562)+NE+ (mild)+3/4
 Inverted nipple (HP:0003186)+ (left)NE1/4
 Bulging abdomen (HP:0001538)++2/5
 Prominent umbilicus (HP:0001544)+1/5
Limbs
 Skin syndactyly between 3rd and 4th fingers (HP:0011939)+ (mild)1/5
 Upper limb amyotrophy (HP:0009129)++++4/5
 Lower limb amyotrophy (HP:0007210)++++4/5
 Lower limb asymmetry (HP:0100559)+NE1/4
 Genu valgum (HP:0002857)++ (mild)2/5
 Genu varum (HP:0002970)+ (mild)1/5
 Enlargement of the proximal interphalangeal joints (HP:0006185)++ (mild)2/5
 Pes planus (HP:0001763)++++4/5
 Deviation of the hallux (HP:0010051)++2/5
 Short halluces (HP:0010109)+ (mild)+2/5
 Sandal gap (HP:0001852)+1/5
 Hammertoe (HP:0001765)+1/5
Other
 Prenatal problems (HP:0001197)IUGRMild pyelectasis in left kidney; IUGR2/5
 Cardiovascular problems (HP:0001626)++ (atrial septal defect)+ (pulmonary stenosis)+ (atrial septal defect)4/5
 Respiratory problems (HP:0002795)+1/5
 Genitourinary problems (HP:0000119)Small testis and penis; No sphincter controlAbnomal sphincter control2/5
 Feeding problems (HP:0011968)+++++5/5
Freckling (HP:0001480)Freckles on the thoraxNumerous freckles (face and body)2/5
 Webbed neck (HP:0000465)0/5
  1. Av average, IUGR Intrauterine growth retardation. NE Not Evaluable