Pontocerebellar hypoplasia type 7

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.



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

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000215 Thick upper lip vermilion Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0002060 Abnormality of the cerebrum Frequent (79-30%)
HP:0002079 Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0002365 Hypoplasia of the brainstem Frequent (79-30%)
HP:0002380 Fasciculations Frequent (79-30%)
HP:0002500 Abnormality of the cerebral white matter Frequent (79-30%)
HP:0003202 Skeletal muscle atrophy Frequent (79-30%)
HP:0006955 Olivopontocerebellar hypoplasia Frequent (79-30%)
HP:0030197 Fatigable weakness of skeletal muscles Frequent (79-30%)
HP:0000054 Micropenis Occasional (29-5%)
HP:0000133 Gonadal dysgenesis Occasional (29-5%)
HP:0000151 Aplasia of the uterus Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001257 Spasticity Occasional (29-5%)
HP:0001336 Myoclonus Occasional (29-5%)
HP:0001347 Hyperreflexia Occasional (29-5%)
HP:0004305 Involuntary movements Occasional (29-5%)
HP:0005280 Depressed nasal bridge Occasional (29-5%)
HP:0008665 Clitoral hypertrophy Occasional (29-5%)
HP:0012856 Abnormal scrotal rugation Occasional (29-5%)
HP:0030260 Microphallus Occasional (29-5%)
HP:0030261 Absent penis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TOE1 target of EGR1, exonuclease 114034