Distal monosomy 17q

A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000288 Abnormality of the philtrum Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000995 Melanocytic nevus Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001172 Abnormal thumb morphology Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0001626 Abnormality of the cardiovascular system Very frequent (99-80%)
HP:0001643 Patent ductus arteriosus Very frequent (99-80%)
HP:0001671 Abnormal cardiac septum morphology Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0004097 Deviation of finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005487 Prominent metopic ridge Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0009601 Aplasia/Hypoplasia of the thumb Very frequent (99-80%)
HP:0010293 Aplasia/Hypoplasia of the uvula Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0100555 Asymmetric growth Very frequent (99-80%)
HP:0100560 Upper limb asymmetry Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID