Intellectual developmental disorder, X-linked, syndromic 35

Preferred Label : Intellectual developmental disorder, X-linked, syndromic 35;

Symbol : MRXS35;

CISMeF acronym : MRXS35;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 35;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ribosomal protein L10 gene (RPL10, 312173.0003);

Prefixed ID : #300998;

Details

Origin ID

300998;

UMLS CUI

C4478383;

Automatic exact mappings (from CISMeF team)
- syndromic X-linked mental retardation 35 [DO Concept]
DO Cross reference
- syndromic X-linked mental retardation 35 [DO Concept]
Genes related to phenotype
- Ribosomal protein l10 [OMIM gene]
HPO term(s)
- 2-3 toe cutaneous syndactyly [HPO term]
- Absent antihelix [HPO term]
- Ataxia [HPO term]
- Atrial septal defect [HPO term]
- Bilateral cryptorchidism [HPO term]
- Broad foot [HPO term]
- Central hypothyroidism [HPO term]
- Cerebellar hypoplasia [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital onset [HPO term]
- Contracture of the proximal interphalangeal joint of the 2nd finger [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Decreased testicular size [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Dilation of Virchow-Robin spaces [HPO term]
- Dolichocephaly [HPO term]
- Dorsal hirsutism [HPO term]
- Epicanthus [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal onset [HPO term]
- Frequent falls [HPO term]
- Gait ataxia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High myopia [HPO term]
- Hypermetropia [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Laryngomalacia [HPO term]
- Long philtrum [HPO term]
- Lumbar scoliosis [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Narrow mouth [HPO term]
- Neonatal hypotonia [HPO term]
- Osteoporosis [HPO term]
- Periventricular white matter hyperintensities [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Protruding ear [HPO term]
- Pulmonary artery stenosis [HPO term]
- Recurrent infections [HPO term]
- Rod-cone dystrophy [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short finger [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth philtrum [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Tremor [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome [ORDO Disease]
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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