Global Variome shared LOVD
HIST1H4E (histone cluster 1, H4e)
LOVD v.3.0 Build 30b [
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Global Variome, with Curator vacancy
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All individuals with variants in gene HIST1H4E
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
17 entries on 1 page. Showing entries 1 - 17.
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Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00404428
Pat8
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
United States
white;Hispanic
-
-
-
-
NDD
birth 35w+6 length 45.5 cm (-0.77 SD)birth 35w+6 length 45.5 cm (-0.77 SD), weight 2.0128 kg (-1.47 SD), OFC 32 cm (-0.1 SD); height 64.2 cm (-3.14 SD), weight 5.595 kg (-4.55 SD), OFC 42.7 cm (-2.63 SD); made sounds but did not babble during exam. Not pulling to stand yet. Not seen in neurology; global developmental delay, growth delay, post natal microcephaly, short stature; Broad nasal bridge, blunt nasal tip; feeding NG tube in place; hemangioma on left lower calf; Normal Renal ultrasound at almost 11 moths and a half; Decreased subcutaneous fat, XR bone survey at 11 month and a half: mild microcephaly, asymetric ossification of the femoral heads with left side discrepantly small. Overall nonespecfic findings. Nodefinitive evidence of skeletal dysplasia; Passed newborn hearing screen. Normal hearing at 11 months; Failure to thrive, growth concerns even in prenatal period;
1
1
Johan den Dunnen
00404429
Pat9
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
M
-
Portugal;Belize;Mexico
native American
-
-
-
-
NDD
birth length 48.5 cm (-1.27 SD)birth length 48.5 cm (-1.27 SD), weight 2.82 kg (-1.55 SD), OFC 33.5 cm (-1.34 SD); height 97 cm (-2.56 SD), weight 16.5 kg (-0.87 SD), OFC 50.8 cm (-1.24 SD); epilepsy (controlled on Keppra), lower limb spasticity and diffuse hyperreflexia consistent with a diplegic cerebral palsy presentation; MRI persistent mildly delayed myelination for age.; Global developmental delays, first sat up at 24 months, started cruising at 5 y and cannot walk independently at 5 y, has been babbling since 15 months but does not have any words; epicanthal folds, otherwise normal; no feeding problems; has a café au lait macule and a slate gray nevus; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning;
1
1
Johan den Dunnen
00404430
Pat10
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
Netherlands
-
-
-
-
-
NDD
birth 38w length 44 cm (-2.5 SD)birth 38w length 44 cm (-2.5 SD), weight 2.86 kg (-0.33 SD); height 151 cm (-0.2 SD), weight 39 kg (-0.49 SD), OFC 52 cm (-1.89 SD); No focal abnormalities; MRI normal; Delay noted at 1.5y of age, speech delay. Motor development (planning and coordination) delayed. Autism is most limiting. IQ test not reliable; showed dysharmonic profile (verbal lower than performal; active vocabulary lower than passive); Short palpebral fissures, epicanthus, high hair line, preauricular tag; Only motor delay; difficutlies with coordination of mouth movements; now on no lactose-gluten-glucose-carb diet -> improved contact and vocabulary; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; Hypermobility; abnormal processing of stimuli; good effect of Sonrise therapy
1
1
Johan den Dunnen
00404431
Pat11
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
India;New Zealand
-
-
-
-
-
NDD
birth 37w birth 37w , weight 2.38 kg (-1.04 SD); height 115.6 cm (-1.31 SD), weight 20.3 kg (-1.01 SD), OFC 48.8 cm (-3.21 SD); prior ataxia/dystonia now resolved; global developmental dealy; no facial dysmorphism; no feeding problems; normal skin; no urogenital anomalies; clinically normal;no xrays performed; no hearing loss; normal vision; Previous older sibling stillborn but well grown
1
1
Johan den Dunnen
00404432
Pat12
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
NDD
birth weight 3.2 kg (-0.74 SD)birth weight 3.2 kg (-0.74 SD); height 131 cm (-2.27 SD), weight 27 kg (-2.11 SD), OFC 49 cm (-3.71 SD); axial hypotonia, limb hypertonia, brisk reflexes, progressively developing ataxia; MRI normal; sat 11 months, crawled 18 months, walked 4 years, speech from 4 years; prominent nose, broad nasal tip, broad columella, everted lips, prominent teeth; no feeding problems; blistering in sun; enlarged external genitalia; no skeletal anomalies; no hearing loss; normal vision; frequent infections; chromosome Xq21.32 dup (mat) , precocious puberty, macroorchidism
1
1
Johan den Dunnen
00404433
Pat13
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
Netherlands
-
-
-
-
-
NDD
birth 30w, dizygotic twin, neonatal asphyxiabirth 30w, dizygotic twin, neonatal asphyxia, weight 1.325 kg (0.56 SD); 18y height 141.5 cm (-3.65 SD), weight 45.5 kg (-1.77 SD), OFC 50 cm (-3.98 SD); Spastic quadriplegia, absence-like episodes (no formal diagnosis of epilepsy); Developmetal delay, severe intellectual disability, very limited speech; Brachycephaly, deep set eyes, periorbital fullness, small up turned nose with broad tip, low set ears, prominent philtrum, down turned corners of the mouth, high narrow palate, curly hair; Several periods of tube feeding during infancy and childhood; Dry skin; no urogenital anomalies; Lumbal lordosis, small hands and feet; no hearing loss; Moderate myopia, central vision impairment; Recurrent respiratory infections during childhood, once episode of anemia (with single transusion) during infancy; automutilating behavior, screaming, teeth grinding
1
1
Johan den Dunnen
00404434
Pat14
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
M
-
Netherlands
white;Hispanic
-
-
-
-
NDD
birth 40w birth 40w , weight 2.5 kg (-2.03 SD); height 154 cm (-3.29 SD), weight 43 kg (-3.66 SD), OFC 52 cm (-3.07 SD); Focal epilepsy, since age 22 years; psychomotor delay, increasing cognitive delay, regression of speech, eventually severe intellectual disability; He looks much older than his calendar age/premature ageing of facial features, with excessive wrinkling for age; has to be stimulated to eat sometimes; premature ageing/wrinkling; difference in length of legs (7 mm); normal-mild hearing loss; vision 0.15, myopia (-3) cylinder (-2), alternating strabismus convergence; frequent infections (including bilateral pneumonia as a child, frequent ear infections); obstructive sleep apnea (diagnosed at age 50 yrs), premature aging - excessive wrinkling, baldness, similar to 80yr old parents
1
1
Johan den Dunnen
00404435
Pat15
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
Italy
-
-
-
-
-
NDD
birth 41w length 45 cm (-3.2 SD)birth 41w length 45 cm (-3.2 SD), weight 2.45 kg (-2.58 SD), OFC 32 cm (-2.53 SD); height 127 cm (-5.95 SD), weight 26.5 kg (-6.14 SD), OFC 49 cm (-4.6 SD); Language intelligible (she knows 20 words); slightly ataxic, she is not able to step on stairs; frequent smiling, motor stereotypic movement (hand-washing, clapping). Normal muscle tone.; 5 MRIs done at the age of 2, 3, 7, 8 and 13 years: slight hyperintensity in T2-weighted sequences of supratentorial white matter.; Behavioural abnormality, Stereotypy, Severe intellectual disability; Low frontal hairline, bushy and laterally sparsed eyebrows, upslanting long palpebral fissures, triangular nose with prominent glabella and slight bulbous nasal tip, short simplified philtrum, thin upper lip with wide mouth.; normal skin, acne, but may just be consequence of puberty; Partial fusion of 1st and 2nd right rib, long fingers; Fondul oculi, normal; moderate myopia; Fetal pads; Recurrent fever
1
1
Johan den Dunnen
00404436
Pat16
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
Netherlands
-
-
-
-
-
NDD
birth 40w length 49 cm (-0.65 SD)birth 40w length 49 cm (-0.65 SD), weight 2.960 kg (-0.99 SD); height 130.5 cm (-1.92 SD), 11y6m-weight 31.3 kg (-1.08 SD), OFC 11 yrs 6 mnths - 50 cm (-3.26 SD); hypotonia; intellectual disability; deep set eyes, thin upper lip, prognathism; no feeding problems; normal skin; no urogenital anomalies; very pronated/flat feet, mild scoliosis; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning;
1
1
Johan den Dunnen
00404437
Pat17
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
Spain
Catalonia
-
-
-
-
NDD
birth 38w length 43 cm (-3.05 SD)birth 38w length 43 cm (-3.05 SD), weight 2.1 kg (-2.25 SD), OFC 31.5 cm (-1.51 SD); height 83.0 cm (-1.5 SD), weight 10.69 kg (-1.4 SD), OFC 46.5 cm (-2.38 SD); Autism, bruxism, stereotypical hand wringing; MRI normal; global developmental delay; horizontal eyebrow, long eyelashes; chronic constipation; sacral dimple; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning;
1
1
Johan den Dunnen
00404438
Pat18
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
M
-
Israel
-
-
-
-
-
NDD
birth 40w length 47.8 cm (-1.62 SD)birth 40w length 47.8 cm (-1.62 SD), weight 2.94 cm (-1.29 SD), OFC 34 cm (-0.95 SD); height 82 cm (-1.08 SD), weight 10.5 cm(-1.38 SD), OFC 46 cm (-3.02 SD); Axial hypotonia; brain MRI and MRS normal; severe global developmental delay; No coarse dysmorphism. Flat philtrum.; feeding problems; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning;
1
1
Johan den Dunnen
00404439
Pat19
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
NDD
birth 40w length 51 cm (-0.02 SD)birth 40w length 51 cm (-0.02 SD), weight 3.1 kg (-0.95 SD), OFC 35 cm (-0.16 SD); height 171 cm (-0.95 SD), weight 65 kg (-0.63 SD), OFC 57 cm (-0.15 SD); neonatal/infancy hypotonia; MRI normal; severe intellectual disability, no speech; puffy face, thick upper and lower lip, open mouth; no feeding problems; dermatitis on scalp, face and back; no urogenital anomalies; tapering fingers, pes planus and valgus; no hearing loss; unilateral strabismus surgically corrected; normal haematopoiesis, normal iImmune functioning; smily, calm, affectionate, very rarely upset or angry; lives most of the time in his own world
1
1
Johan den Dunnen
00404440
Pat20
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
-
Asia;white
-
-
-
-
NDD
birth 42w length 51 cm (-0.44 SD)birth 42w length 51 cm (-0.44 SD), weight 3.67 kg (-0.24 SD); height 153 cm (-1.03 SD), weight 51.5 kg (+0.16 SD), OFC 54.5 cm (-0.29 SD); walking on toes since age 17 m, at 15 years normal after extensive conservative (orthotics) therapy; severe intellectual disability, speech/language delay: speaks single words at age 16y, can repeat sentences when dictated, not spontaneous, communicates with simple sign language; full lips, small teeth with wide spacing; insatiable, craving for food, food seeking, difficulty chewing; 1 café-au-lait macula; no urogenital anomalies; no skeletal anomalies; no hearing loss; glasses, +1,25; strabism; no recurrent infections; tongue tie; sleeping problems, after menarche only menstruations once a year, cold hands and feet, positive emotional development in teenage years (more interaction, more pleasure in taking part in social activities)
1
1
Johan den Dunnen
00404441
Pat21
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
Tunisia
-
-
-
-
-
NDD
birth 39w length 48 cm (-0.76 SD)birth 39w length 48 cm (-0.76 SD), weight 2.47 kg (-1.74 SD), OFC 33 cm (-0.78 SD); height 106 cm (-1.52 SD), weight 15.2 kg (-2.03 SD), OFC 47.5 cm (-3.77 SD); Flapping, normal EEG; Motor delay: sitting acquired at 8 months, independant walking at 22 months Language impairment: words associations at 5 years, no sentence.; Low set ears, wide mouth, prominient nasal root, triangular shaped face, retrognathia; Transitory feeding difficulties , gastroesophageal reflux during the first year; normal skin; kidney: bilateral asymmetric hypoplasia (predominent on the left kidney).; no skeletal anomalies, normal wrist/rachis/pelvis/knee radiographs; no hearing loss; Strabismus, mild myopia; normal haematopoiesis, normal iImmune functioning; Heart: normal US exploration.;
1
1
Johan den Dunnen
00404442
Pat22
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
France
-
-
-
-
-
NDD
birth length 50 cm (-0.12 SD)birth length 50 cm (-0.12 SD), weight 2.815 kg (-1.33 SD), OFC 33.3 cm (-1.01 SD); height 152 cm (-1.88 SD), weight 48.65 kg (-1.06 SD), OFC 52.5 cm (-2.12 SD); no neurological abnormalities; MRI normal; walk at 18 months, language delay, severe intellectual disability, agitation, attention disorder, sleep disorder; large mouth; Gastroesophageal reflux; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; precocious puberty (8 years)
1
1
Johan den Dunnen
00404443
Pat23
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
F
-
-
white
-
-
-
-
NDD
birth 40w length 48.3 cm (-1.03 SD)birth 40w length 48.3 cm (-1.03 SD), weight 3.15 cm (-0.56 SD), OFC 34.3 cm (-0.2 SD); height 158.5 cm (-0.83 SD), weight 54.5 kg (-0.30 SD), OFC 49 cm (11 yrs) (-3.96 SD); seizures starting at 16 yrs, autism, hypotonia; MRI normal; severe intellectual disability (uses 5 words), walked at 3.5 yrs, mild LE spasticity; pseudo-cleft lip, cleft palate, coarse facial features, brachycephaly, ears that are mildly displaced with thickened helices, striking epicanthal folds with very short, downslanting palpebral fissures, thick alae nasi, broad nasal bridge, and short neck; cleft soft palate; acne; no pubertal development; no skeletal anomalies; mild conductive loss associated with recurrent otitis media; strabismus; normal haematopoiesis, normal iImmune functioning; hypotonia with CP; impulsive behaviors, family history is significant for a sister who died during the neonatal period of causes unknown and another sister with tetralogy of Fallot, mild learning delays, and vertebral anomalies
1
1
Johan den Dunnen
00404444
Pat24
PubMed: Tessadori 2022
,
Journal: Tessadori 2022
-
M
-
France
-
-
-
-
-
NDD
birth length 49 cm (-1.02 SD)birth length 49 cm (-1.02 SD), weight 3.4 kg (-0.32 SD), OFC 34 cm (-0.95 SD); height 122 cm (-3.05 SD), weight 20 kg (-4.07 SD), OFC 47.5 cm (-4.46 SD); no neurological abnormalities; MRI normal; Mild developmental delay; facial dysmorphism; no feeding problems; hyperelasticity; no urogenital anomalies; scoliosis; no hearing loss; hyperopia; pulmonary valvular stenosis;
1
1
Johan den Dunnen
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