
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00000209 |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
0 |
- |
- |
CHTE |
central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) |
1 |
1 |
Yu Sun |
00050372 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
intellectual disability severe, hyperactivity, ligamentous laxity, recurrent infections, poor motor coordination, sleep-wake cycle disturbance |
1 |
1 |
Johan den Dunnen |
00050383 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
ovarian cysts, global developmental delay |
1 |
1 |
Johan den Dunnen |
00050567 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
moderately short stature, microcephaly, specific learning disability |
1 |
1 |
Johan den Dunnen |
00050602 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
Decipher |
- |
? |
palmoplantar hyperkeratosis, global developmental delay, oral cleft, bilateral cleft lip and palate, ectopic anus, vesicoureteral reflux, conductive hearing impairment, sensorineural hearing impairment, joint hypermobility, nevus, linear nevus sebaceous, depigmentation/hyperpigmentation of skin |
1 |
1 |
Johan den Dunnen |
00103878 |
28327206-PatBH6062_1 |
PubMed: Eldomery 2017, Journal: Eldomery 2017 |
- |
- |
- |
United States |
- |
- |
0 |
- |
- |
? |
developmental delay, intellectual disability, microcephaly, cortical visual impairment, delayed myelination, short stature, hypotonia |
1 |
1 |
Johan den Dunnen |
00103879 |
28327206-PatBH5765_1 |
PubMed: Eldomery 2017, Journal: Eldomery 2017 |
- |
- |
- |
United States |
- |
- |
0 |
- |
- |
? |
developmental delay, intellectual disability, microcephaly, hypotonia, epidermolysis bullosa |
1 |
1 |
Johan den Dunnen |
00103903 |
28327206-PatBH5749_1 |
PubMed: Eldomery 2017, Journal: Eldomery 2017 |
- |
- |
- |
United States |
- |
- |
0 |
- |
- |
? |
developmental delay, intellectual disability, seizures, hypotonia, dysmorphic features, brain malformation |
1 |
1 |
Johan den Dunnen |
00151420 |
- |
- |
- |
F |
- |
(Germany) |
- |
- |
0 |
- |
- |
? |
Global developmental delay (HP:0001263); Gait ataxia (HP:0002066) |
1 |
1 |
IMGAG |
00164709 |
- |
- |
- |
F |
- |
(Germany) |
- |
- |
0 |
- |
- |
? |
Triangular face (HP:0000325); Global developmental delay (HP:0001263); Central hypotonia (HP:0011398); Stereotypy (HP:0000733) |
1 |
1 |
IMGAG |
00172396 |
19377476-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
0 |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
1 |
1 |
Lucy Raymond |
00219099 |
Patient 3 |
- |
- |
F |
- |
Italy |
white |
13y |
0 |
no |
- |
ID |
Short stature, intellectual disability, Strabismus, Cafe-au-lait spot, Atrial septal defect,Hypertonia; intellectual disability (HP:0001249); global developmental delay (HP:0001263); no speech (HP:0001344) |
1 |
1 |
Annalaura Torella |
00219101 |
Patient 1 |
- |
- |
F |
no |
Italy |
white |
18y |
0 |
no |
- |
ID |
Intrauterine growth retardation, Thin vermilion border, Retrognathia, Broad philtrum, Smooth; philtrum, Short neck, Absent cupid's bow, Posterior plagiocephaly, Midface retrusion, Flat face,; Strabismus, Esotropia, Horizontal nystagmus, Low-set ears, Curly hair, Highly arched eyebrow,; Scoliosis, Spastic tetraparesis, Global developmental delay, Absent speech, Abnormality of the; corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal; ganglia, Abnormality of the cerebral white matter, Astrocytoma, Hypoplasia of the pons,; Hypoplastic anterior commissure.; global developmental delay (HP:0001263); no speech (HP:0001344) |
1 |
1 |
Annalaura Torella |
00219102 |
Patient 2 |
- |
- |
F |
no |
Italy |
white |
14y |
0 |
no |
- |
ID |
Intrauterine growth retardation, Increased nuchal translucency, Oligohydramnios,; Ventriculomegaly, Trigonocephaly, Hypotelorism, Nevus flammeus, Highly arched eyebrows,; Synophrys, Epicanthus, Strabismus, Low-set ears, Posteriorly rotated ears, Malar flattening,; Microretrognathia, Intellectual disability, Developmental delay, Bilateral sensorineural hearing; impairment, Muscular hypotonia, Feeding difficulties, Optic atrophy, Esotropia, EEG abnormality,; Microcephaly, Dysphagia, Dystonia, Absent speech, Abnormal cortical gyration, Abnormality of; the basal ganglia, Hypoplasia of the corpus callosum, Dysgenesis of the hippocampus, Abnormality; of the white matter, Hypoplastic anterior commissure, Hypoplasia of the pons, Cerebellar vermis; hypoplasia.; intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); no speech (HP:0001344) |
1 |
1 |
Annalaura Torella |
00219136 |
26235985-Ind1 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy +/- (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219137 |
26235985-Ind2 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219138 |
26235985-Ind7 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); hearing loss (HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219139 |
26235985-Ind8 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); cleft lip or palate (HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219140 |
DD15743 |
PubMed: Rauch 2012 |
- |
F |
- |
Germany |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219141 |
26235985-Ind10 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219142 |
26235985-Ind11 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); macrocephaly (HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), cortical malformation (HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219143 |
26235985-Ind12 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219144 |
26235985-Ind13 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219145 |
26235985-Ind14 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219146 |
26235985-Ind15 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219147 |
26235985-Ind16 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219148 |
26235985-Ind17 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
Netherlands |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219149 |
26235985-Ind18 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219150 |
26235985-Ind19 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219151 |
26235985-Ind20 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); macrocephaly (HP:0000256); developmental delay (HP:0001263); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219152 |
26235985-Ind21 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); hypotonia (HP:0001290); epilepsy (HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219153 |
26235985-Ind22 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219154 |
26235985-Ind23 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219155 |
26235985-Ind24 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219156 |
26235985-Ind25 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); macrocephaly (HP:0000256); developmental delay (HP:0001263); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219157 |
26235985-Ind26 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219158 |
26235985-Ind27 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); hearing loss (HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219159 |
26235985-Ind28 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); cleft lip or palate (HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219160 |
26235985-Ind29 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219161 |
26235985-Ind30 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United States |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219162 |
26235985-Ind31 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), moderate/severe; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219163 |
26235985-Ind32 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219164 |
26235985-Ind33 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); epilepsy +/- (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219165 |
26235985-Ind34 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219166 |
26235985-Ind35 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); intellectual disability (HP:0001249), moderate/severe; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219167 |
26235985-Ind36 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219168 |
26235985-Ind37 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219169 |
26235985-Ind38 |
PubMed: Snijders-Blok 2015 |
- |
F |
- |
United Kingdom (Great Britain) |
- |
- |
0 |
- |
- |
ID |
no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) |
1 |
1 |
Johan den Dunnen |
00219170 |
26235985-Fam1 |
PubMed: Snijders-Blok 2015 |
3-generation family, 6 affected (6M), unaffected heterozygous carrier female |
M |
- |
- |
- |
- |
0 |
- |
- |
ID |
- |
1 |
6 |
Johan den Dunnen |
00219171 |
26235985-Fam2 |
PubMed: Hu 2016, PubMed: Snijders-Blok 2015 |
3-generation family, 2 affected (2M), unaffected heterozygous carrier female |
M |
- |
- |
- |
- |
0 |
- |
- |
ID |
- |
1 |
2 |
Johan den Dunnen |
00219172 |
26235985-Fam3 |
PubMed: Snijders-Blok 2015 |
3-generation family, 2 affected, unaffected heterozygous carrier female |
M |
- |
- |
- |
- |
0 |
- |
- |
ID |
severe ID, dysplastic pulmonary valve, hypertonia, strabismus, thickened nuchal fold, absent nasal bone; mother had recurrent miscarriages of unknown gender; viable pregnancy terminated for ultrasound anomalies (thickened nuchal fold, absent nasal bone); severe intellectual disability (HP:0010864) |
1 |
2 |
Johan den Dunnen |
00269898 |
- |
- |
- |
? |
- |
- |
- |
- |
0 |
- |
- |
? |
Global developmental delay (HP:0001263); Seizures (HP:0001250); Obesity (HP:0001513); Aggressive behavior (HP:0000718); Progressive hearing impairment (HP:0001730); Punctate periventricular T2 hyperintense foci (HP:0030081) |
1 |
1 |
IMGAG |
00276031 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
? |
Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750) |
1 |
1 |
IMGAG |
00301079 |
- |
submitted |
- |
F |
no |
Japan |
- |
- |
- |
- |
- |
MRXSSB |
- |
1 |
1 |
Tadashi Kaname |
00302675 |
- |
- |
- |
F |
- |
(Germany) |
- |
- |
0 |
- |
- |
? |
Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Strabismus (HP:0000486) |
1 |
1 |
IMGAG |
00302945 |
Pat1 |
PubMed: Fieremans 2016 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ID |
see paper; ..., severe intellectual disability, ataxic gait, cleft uvula, facial dysmorphism, vesicoureteric reflux |
1 |
1 |
Johan den Dunnen |
00302946 |
Pat2 |
PubMed: Fieremans 2016 |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
ID |
see paper; ..., mild/moderate intellectual disability, pre- and postnatal growth restriction, hirsutism, hypertelorism, facial features, hallux valgus with foot arches |
1 |
1 |
Johan den Dunnen |
00303953 |
Patient 1 |
PubMed: Nicola 2019 |
2-generation family, 1 affected, unaffected non-carrier parents |
M |
yes |
United Kingdom (Great Britain) |
White |
>09y |
0 |
- |
- |
ID |
Autistic behavior (HP:0000729); Aortopulmonary window (HP:0011604); Secundum atrial septal defect (HP:0001684); Plagiocephaly (HP:0001357); Lambdoidal craniosynostosis (HP:0004443); Low columella (HP:0010763); Depressed nasal tip (HP:0000437); Seizure (HP:0001250); Otitis media (HP:0000388); Hypotonia (HP:0001252); Epidermoid cyst (HP:0200040); |
1 |
1 |
Joaquin De La Torre Vela |
00303954 |
Patient 2 |
PubMed: Nicola 2019 |
2-generation family, 1 affected, unaffected non-carrier parents |
M |
yes |
- |
White |
>08y |
0 |
- |
- |
ID |
Pulmonary valve atresia (HP:0010882); Right bundle branch block (HP:0011712); Ventricular septal defect (HP:0001629); Patent foramen ovale (HP:0001655);Long eyebrows (HP:0004523); Thin vermilion border (HP:0000233); Cataract HP:0000518; Retinal detachment (HP:0000541); Hypermetropia (HP:0000540); Conductive hearing impairment (HP:0000405); |
1 |
1 |
Joaquin De La Torre Vela |
00303955 |
Patient 3 |
PubMed: Nicola 2019 |
2-generation family, 1 affected, unaffected non-carrier mother |
M |
yes |
United Kingdom (Great Britain) |
White |
>16y |
0 |
- |
- |
ID |
Pulmonary artery stenosis (HP:0004415); Brachycephaly (HP:0000248); Broad face (HP:0000283); Thin upper lip vermilion (HP:0000219); Delayed puberty (HP:0000823); Obesity (HP:0001513); Muscular (hypotonia HP:0001252) |
1 |
1 |
Joaquin De La Torre Vela |
00303976 |
FamK1 |
PubMed: Kellaris 2018 |
4-generation family, 2 affected brothers, unaffected heterozygous carrier mother |
M |
no |
United States |
- |
>29y |
0 |
- |
- |
ID |
Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Abnormal corpus callosum (HP:0001273); Ventriculomegaly); Hand weakness (HP:0030237); Macrocephaly (HP:0000256); Dysarthria (HP:0001260); Progressive spastic paraparesis (HP:0007199); Brain MRI with abnormal periventricular T2 intensity (HP:0002518); Ventriculomegaly (HP:0002119) |
1 |
2 |
Joaquin De La Torre Vela |
00303977 |
FamK2 |
PubMed: Kellaris 2018 |
brother of K1 |
M |
no |
United States |
- |
>25y |
0 |
- |
- |
ID |
Tremor (HP:0002322);Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Abnormal corpus callosum (HP:0001273); Ventriculomegaly (HP:0002119); Macrocephaly (HP:0000256); Dysarthria (HP:0001260); Progressive spastic paraparesis (HP:0007199); Brain MRI with abnormal periventricular T2 intensity (HP:0002518); Ventriculomegaly (HP:0002119) |
1 |
1 |
Joaquin De La Torre Vela |
00306252 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
? |
Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Poor coordination (HP:0002370) |
1 |
1 |
IMGAG |
00309891 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
? |
Global developmental delay (HP:0001263); Absent speech (HP:0001344); Gait ataxia (HP:0002066); Poor fine motor coordination (HP:0007010); Corpus callosum atrophy (HP:0007371); Brain atrophy (HP:0012444); Maintenance insomnia (HP:0031355); Diminished ability to concentrate (HP:0031987) |
1 |
1 |
IMGAG |
00320151 |
- |
- |
- |
F |
- |
- |
- |
- |
0 |
- |
- |
? |
Stereotypy (HP:0000733); Global developmental delay (HP:0001263); Absent speech (HP:0001344); Sleep terror (HP:0030765) |
1 |
1 |
IMGAG |
00320216 |
152769 |
- |
- |
F |
- |
Germany |
- |
- |
0 |
- |
- |
MRXSSB |
(+) Narrow face,(+) Global developmental delay,(+) Abnormal facial shape,(+) Poor coordination,(+) Mild microcephaly; one-year-old female child, possibly Angelman syndrome, linguistically accentuated developmental delay, broad-based gait pattern, facial dysmorphia (long philtrum, anteverted nostrils, long narrow face), relative microcephaly |
1 |
1 |
Andreas Laner |
00334300 |
- |
PubMed: Luo 2021, Journal: Luo 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00334543 |
- |
PubMed: Luo 2021, Journal: Luo 2021 |
analysis 233 patients |
- |
- |
China |
- |
- |
- |
- |
- |
virus, COVID19 |
hospitalized after COVID-19 infection, |
1 |
1 |
Liu Wenbing |
00375518 |
179786 |
- |
- |
F |
? |
Germany |
- |
- |
0 |
- |
- |
AUTSX2 |
(+) Microcephaly,(+) Seizure,(+) Polymicrogyria,(+) Abnormal cortical gyration,(+) Aplasia/Hypoplasia of the cerebrum,(+) Abnormal nervous system physiology,(+) Decreased head circumference |
1 |
1 |
Andreas Laner |
00387704 |
M030 |
PubMed: Hu 2019 |
family, 2 affected individuals |
- |
- |
Iran |
Persia |
- |
0 |
- |
- |
ID |
syndromic intellectual disability, no microcephaly |
1 |
2 |
Johan den Dunnen |
00387860 |
M8900228 |
PubMed: Hu 2019 |
family, 2 affected individuals, first cousin parents |
- |
yes |
Iran |
Persia |
- |
0 |
- |
- |
ID |
syndromic intellectual disability, microcephaly |
1 |
2 |
Johan den Dunnen |
00403873 |
TF071 |
PubMed: Froukh 2020 |
analysis 103 families with neurodevelopmental disorders |
- |
- |
Jordan |
- |
- |
0 |
- |
- |
NDD |
- |
1 |
1 |
Johan den Dunnen |