Phenotypes for disease #06495 (RLSDF (Rhizomelic limb shortening with dysmorphic features), OMIM:618821)

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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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3 entries on 1 page. Showing entries 1 - 3.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000325652	-	RLSDF	rhizomelia of the upper limbs, flat face, prominent forehead, and nasal planus	Familial, autosomal recessive	-	-	-	-	Lulu Yan	00435461
0000325653	rhizomelic shortening of limbs, dysmorphic features	RLSDF	see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, café au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs	Familial, autosomal recessive	-	<00y06m	-	-	Johan den Dunnen	00435463
0000325654	rhizomelic shortening of limbs, dysmorphic features	RLSDF	see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation	Familial, autosomal recessive	-	<00y06m	-	-	Johan den Dunnen	00435464

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