Table 1 Summary of clinical features in the cohort of Vargiami et al. [17] and DeScipio et al. [3], with distinction of patient nr 7, patient with missense mutation in ZMYND11 gene [1] and our index patient

sex

Male:Female 8:6

Male

Male

Female

Female

Age at report

1y9m – 48y

5y

7y

24y

5y

Birth weight

< 3rd centile – 25th centile

3402 g (25th centile)

1867 g (<3rd centile)

3740 g (50th centile)

3370 g (25th centile)

Height

<3rd centile – 75th centile

25th centile

< 3rd centile

Not provided

< 3rd centile

Weight

<3rd centile – > 95th centile

75th centile

Not provided

Not provided

< 3rd centile

Head circumference

10th - >95th centile

75th centile

Microcephaly (<3rd centile)

Microcephaly (<3rd centile)

25th centile

Cognitive/behavioral/developmental differences

13/13

Hyperactivity

Severe developmental delay

Severe global developmental delay, able to understand to some degree and can communicate using a few sings, happy disposition, smiles almost constantly

Mild ID, temper tantrums, aggression

Speech delay

10/10

Severe One or two word sentences at 5y

At the age of 7 years uses only two words

Non verbal, makes sounds

Severe Single words at 5y

Motor delay

11/11

Started to walk independently at 2,5y Unable to run well or ride a bicycle at 5y

At the age of 7 years walks behind a walking device

Severe motor delay, ataxic, wide base gait, walks only short distances with assistance.

Started to walk independently at 2y Clumsy running at 5y

Craniofacial dysmorphic features

9/12 Inconsistent

Plagiocephaly, hypertelorism, prominent columella, hypoplastic alae,

Slight metopic ridge, low-set ears, hypopigmentation of the right eyebrow and eyelashes, telecanthi, epicanthic folds, slant-up and narrowing of palpebral fissures, broad nasal bridge, small nares with broad alaenasi, smooth philtrum with thin upper lip and everted lower lip, widely-spaced teeth, retrognathia.

Bulbous nose with wide base and ridge,, deep set eyes, long palpebral fissures, epicanthal fold, prominent jaw

Flat face, mild synophrys, long eyelashes, long palpebral fissures, epicanthal folds, wide nasal ridge, low set, posteriorly rotated and slightly protruding ears, underdeveloped antitargus, short chin

Brain abnormalities

6/8 cortical atrophy (4), hydrocephalus (1), arachnoid cyst (1)

No

Delayed myelination

Cerebral atrophy and delayed myelination without evidence of focal abnormality

Chiari malformation type I with spinal cord edema requiring surgical decompression

Hypotonia

7/13

No

Yes

Yes

in infancy

Hand/ft anomalies

5/13

5th finger clinodactyly, fetal pads, pes planus, clinodactyly of toes 3,4,5

Valgus feet, short metacarpals of both hands and a brachymesophalanx V, broad hands with deep palmar creases and pillowing of the areas between the grooves, short tapering fingers and broad feet with short toes and small nails

5th finger clinodactyly, small feet

5th finger clinodactyly pes planus

Seizures

3/9

Partial complex

Absence seizures

Severe intractable seizures

Absence seizures

Cardiac anomalies

2/11 bicuspid aortic valve, patent foramen ovale, murmur

Systolic murmur

Spontaneously closed VSD

None

Tetralogy of Fallot with pulmonary atresia

Other features

Diaphragmatic hernia, mildly narrow palate, shawl scrotum and wide-based gait

Feeding difficulties requiring supplementary tube feeding, fusion of the 2nd and 3rd vertebrae and compression of the myelum, pyloric stenosis non-descended testes and urethral stenosis, inverted and widely-spaced nipples, dimples on elbows and knees

Neurogenic bladder Severe eosinophilic gastroesophagitis, gastroesophageal reflux Asthma, multiple food, environmental and medication allergies Myopia Bilateral moderate hearing impairment (family history positive for hearing impairment)

wide–base gait protein C deficiency