pontocerebellar hypoplasia type 7

MONDO:0013993Mondo

Findings

No curated finding names pontocerebellar hypoplasia type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia 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 in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

Definition from the Mondo Disease Ontology (MONDO:0013993), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Congenital onset

Features

63 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Feeding difficultiesHPOHP:0011968
- 6 of 6 reported patients
Global developmental delayHPOHP:0001263
- 13 of 13 reported patients
- Frequent (30% to 79% of cases)
Hypoplasia of the brainstemHPOHP:0002365
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
Hypoplasia of the ponsHPOHP:0012110
- 12 of 12 reported patients
Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

TOE1HGNC:15954
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: pontocerebellar hypoplasia

Other names

4 names

Resolves to: pontocerebellar hypoplasia type 7

Also called: non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1PCH7pontocerebellar hypoplasia-46,XY disorder of sex development syndromeTOE1 non-syndromic pontocerebellar hypoplasia

Show the remaining 51

MyoclonusHPOHP:0001336
- 3 of 4 reported patients
- Occasional (5% to 29% of cases)
HypotoniaHPOHP:0001252
- 8 of 11 reported patients
- Frequent (30% to 79% of cases)
SpasticityHPOHP:0001257
- 7 of 10 reported patients
- Occasional (5% to 29% of cases)
Abnormal cerebral morphologyHPOHP:0002060
- Frequent (30% to 79% of cases)
Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
EpicanthusHPOHP:0000286
- 1 of 13 reported patients
- Frequent (30% to 79% of cases)
FasciculationsHPOHP:0002380
- Frequent (30% to 79% of cases)
Fatigable weakness of skeletal musclesHPOHP:0030197
- Frequent (30% to 79% of cases)
High palateHPOHP:0000218
- 3 of 12 reported patients
- Frequent (30% to 79% of cases)
Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
MacrotiaHPOHP:0000400
- 2 of 11 reported patients
- Frequent (30% to 79% of cases)
MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
MicrognathiaHPOHP:0000347
- 2 of 13 reported patients
- Frequent (30% to 79% of cases)
Olivopontocerebellar hypoplasiaHPOHP:0006955
- Frequent (30% to 79% of cases)
Thick upper lip vermilionHPOHP:0000215
- 2 of 13 reported patients
- Frequent (30% to 79% of cases)
Wide nasal bridgeHPOHP:0000431
- 2 of 13 reported patients
- Frequent (30% to 79% of cases)
NystagmusHPOHP:0000639
- 4 of 7 reported patients
- Occasional (5% to 29% of cases)
MicropenisHPOHP:0000054
- 4 of 8 reported patients
- Occasional (5% to 29% of cases)
Optic atrophyHPOHP:0000648
- 2 of 4 reported patients
- Occasional (5% to 29% of cases)
VentriculomegalyHPOHP:0002119
- 6 of 12 reported patients
AtaxiaHPOHP:0001251
- 2 of 5 reported patients
Oculomotor apraxiaHPOHP:0000657
- 2 of 5 reported patients
Abnormal scrotal rugationHPOHP:0012856
- Occasional (5% to 29% of cases)
Absent penisHPOHP:0030261
- Occasional (5% to 29% of cases)
Aplasia of the uterusHPOHP:0000151
- Occasional (5% to 29% of cases)
Clitoral hypertrophyHPOHP:0008665
- Occasional (5% to 29% of cases)
Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
Gonadal dysgenesisHPOHP:0000133
- Occasional (5% to 29% of cases)
Involuntary movementsHPOHP:0004305
- Occasional (5% to 29% of cases)
MicrophallusHPOHP:0030260
- Occasional (5% to 29% of cases)
SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Upslanted palpebral fissureHPOHP:0000582
- Occasional (5% to 29% of cases)
Autistic behaviorHPOHP:0000729
- 1 of 3 reported patients
ChoreoathetosisHPOHP:0001266
- 2 of 6 reported patients
ApneaHPOHP:0002104
- 3 of 13 reported patients
OpisthotonusHPOHP:0002179
- 1 of 5 reported patients
Tongue fasciculationsHPOHP:0001308
- 1 of 5 reported patients
Low-set earsHPOHP:0000369
- 1 of 11 reported patients
HydrocephalusHPOHP:0000238
- 1 of 12 reported patients
Broad nasal tipHPOHP:0000455
- 1 of 13 reported patients
Deep philtrumHPOHP:0002002
- 1 of 13 reported patients
HirsutismHPOHP:0001007
- 1 of 13 reported patients
Hypopigmentation of the skinHPOHP:0001010
- 1 of 13 reported patients
Large foreheadHPOHP:0002003
- 1 of 13 reported patients
Pectus carinatumHPOHP:0000768
- 1 of 13 reported patients
Prominent supraorbital ridgesHPOHP:0000336
- 1 of 13 reported patients
Single transverse palmar creaseHPOHP:0000954
- 1 of 13 reported patients
SynophrysHPOHP:0000664
- 1 of 13 reported patients
Cerebellar hypoplasiaHPOHP:0001321
Cerebral atrophyHPOHP:0002059
Spastic paraplegiaHPOHP:0001258