Phenotypes for disease #05635 (SRTD (dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)))

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Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
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

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
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

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
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

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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17 entries on 1 page. Showing entries 1 - 17.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000187801	Jeune syndrome	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00248833
0000187802	Jeune syndrome	JBTS-33	see paper; ..., narrow thorax, pelvic bone malformation, retinal degeneration due to cone-rod dystrophy in childhood, no impairment renal function	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00248834
0000187803	Jeune syndrome	-	see paper; ..., cone-rod dystrophy, severe scoliosis, hip dysplasia	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00248835
0000227561	short rib polydactyly syndrome	SRTD18	30w-delivery; dolichocephaly; brain with abnormal folding of the left hippocampus, neuroglial heterotopias in the roof of the temporal horn, and mildly dilated ventricles; hypertelorism, bilateral epicanthal folds; thin upper lip, attached to maxilla by mucosal fold, micrognathia; small chest, abnormally bent ribs, mild platyspondyly; liver with ductal abnormalities, pancreas with stellate area of fibrosis in the tail; abnormal maturation of the kidneys with a poorly formed nephrogenic zone, thin cortex and medulla, and fibrosis; micromelia, reverse campomelia of humeri, curved radii, and ulnae; abnormal ilia; micromelia, thin fibulae; postaxial polydactyly with brachydactyly, bilateral simian creases, bilateral partial syndactyly of the second and third toes	Familial, autosomal recessive	<0d	-	-	-	Johan den Dunnen	00300260
0000227562	short rib polydactyly syndrome	SRTD18	18w-delivery; poor mineralization of the calvarium; mild hydrocephalus; no reported abnormalities; no reported abnormalities; narrow and barrel shaped chest, short, bent and decreased number of ribs (11), vertebrae flattened and abnormally wedged with round anterior ends; malrotation of the intestines; polycystic kidneys; micromelia, decreased mineralization with curved radii and ulnae; abnormal ilia with decreased height, narrow sciatic notch, hypoplastic ischium; micromelia, angulated femur, hypoplastic tibae and fibulae; preaxial polydactyly, brachydactyly and aphalangia in hands	Familial, autosomal recessive	<0d	-	-	-	Johan den Dunnen	00300261
0000227563	short rib polydactyly syndrome	SRTD7	22w-delivery; scalp edema, low set ears; hypertelorism; thin upper lip and micrognathia; narrow and barrel shaped chest, short and bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof; micromelia; postaxial polydactyly in the hands and feet, and aphalangia in the hands	Familial, autosomal recessive	<0d	-	-	-	Johan den Dunnen	00300262
0000227564	short rib polydactyly syndrome	SRTD7	23w-delivery; scalp edema; very short, variably bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; flat acetabular roof, narrow sacrosciatic notch; micromelia, bending of the tibae and fibulae; poor mineralization of the hands and feet, no polydactyly	Familial, autosomal recessive	<0d	-	-	-	Johan den Dunnen	00300263
0000245782	SRPS type III	SRTD8	see paper; ..., 2h-deceased, 16w-ultrasound short long bones; 31w-ultrasound polyhydramnios, severe shortening of long bones with bowed femurs, macrocephaly, short ribs, and ambiguous genitalia	Familial, autosomal recessive	00y00m01d	-	-	-	Johan den Dunnen	00327500
0000245783	Jeune syndrome	SRTD8	see paper; ...; 21w-ultrasound short femora; birth-41w, narrow chest, preaxial polydactyly right hand (extra digit removed by surgery), small clinically insignificant ventricular septal defect; 1y-failure to thrive	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00327502
0000246669	short-rib polydactyly syndromes (SRPS)	short-rib polydactyly syndromes (SRPS)	Rectal atresia (HP_0025023), Abnormal facial shape (HP:0001999), polydactyly of the hand (HP:0001161), deep grooves on the plantar surfaces of his feet, Echogenic kidneys, narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), micropenis (HP:0000054), dextrocardia (HP:0001651), situs inversus (HP:0001696), short ribs (HP:0000773), speech delay (HP:0000750), mild intellectual disability (HP:0001256)	Familial, autosomal recessive	-	-	-	Rectal atresia (HP_0025023), polydactyly of the hand (HP:0001161) narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), short ribs (HP:0000773), speech delay (HP:0000750)	Jens Doets	00328443
0000254686	Jeune syndrome	-	-	Unknown	-	-	-	-	Cynthia Silveira	00359445
0000254690	Jeune syndrome	-	-	Unknown	-	-	-	-	Cynthia Silveira	00359449
0000254691	Jeune syndrome	-	-	Unknown	-	-	-	-	Cynthia Silveira	00359450
0000254692	Jeune syndrome	-	-	Unknown	-	-	-	-	Cynthia Silveira	00359451
0000298408	Jeune syndrome/Ellis-van Creveld syndrome	Jeune syndrome/Ellis-van Creveld syndrome	Dysplastic nails, short stature, narrow thorax, limb shortening, bilateral hads and feet postaxial polydactyly, brachydactyly, hand-feet syndactyly, hypertrabeculature of left ventricle apex, renal anaomalies	Familial, autosomal recessive	00y04m	00y04m	-	-	Alessandro De Luca	00405911
0000302078	short rib-polydactyly syndrome	SRTD3	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00409964
0000349968	-	SRTD9	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00462492

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Global Variome shared LOVD

IFT140 (intraflagellar transport 140 homolog (Chla...))