Hypotonia-speech impairment-severe cognitive delay syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: IHPRF
Number of Symptoms 41
OrphanetNr: 371364
OMIM Id: 615419
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurodegenerative disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Rare neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000417) Slender nose 5 / 7739
3
 (HPO:0000325) Triangular face 91 / 7739
4
 (HPO:0003196) Short nose 264 / 7739
5
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0011220) Prominent forehead 137 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0000319) Smooth philtrum 72 / 7739
10
 (HPO:0000248) Brachycephaly 222 / 7739
11
 (HPO:0000154) Wide mouth 137 / 7739
12
 (HPO:0000486) Strabismus 576 / 7739
13
 (HPO:0000648) Optic atrophy 238 / 7739
14
 (HPO:0000639) Nystagmus 555 / 7739
15
 (HPO:0000400) Macrotia 108 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0001347) Hyperreflexia 363 / 7739
18
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
19
 (HPO:0001250) Seizures 1245 / 7739
20
 (HPO:0001263) Global developmental delay 853 / 7739
21
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
22
 (HPO:0002510) Spastic tetraplegia 54 / 7739
23
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
24
 (HPO:0000817) Poor eye contact 26 / 7739
25
 (HPO:0002650) Scoliosis 705 / 7739
26
 (HPO:0000768) Pectus carinatum 136 / 7739
27
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
28
 (HPO:0002019) Constipation 194 / 7739
29
 (HPO:0011968) Feeding difficulties 240 / 7739
30
 (HPO:0008897) Postnatal growth retardation 113 / 7739
31
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
32
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (OMIM) Spheroid formation (in some patients) 1 / 7739
35
 (OMIM) Pes varus 3 / 7739
36
 (OMIM) Neuroaxonal dystrophy 4 / 7739
37
 (OMIM) Sural nerve edema (in some patients) 1 / 7739
38
 (OMIM) Hypotonia, infantile, severe 2 / 7739
39
 (HPO:0003676) Progressive disorder 148 / 7739
40
 (OMIM) Poor speech or lack of speech development 1 / 7739
41
 (OMIM) Sural nerve biopsy shows unmyelinated axons (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never ...
Clinical Description OMIM Seven et al. (2002) described a Turkish brother and sister, offspring of a first-cousin marriage, who were affected with severe neurodegeneration beginning in infancy. Both developed normally until about 6 months of age, and thereafter showed severe psychomotor ...
Molecular genetics OMIM In 2 sibs, born of related parents, with infantile hypotonia and developmental delay, originally reported by Seven et al. (2002), Koroglu et al. (2013) identified a homozygous truncating mutation in the NALCN gene (Q642X; 611549.0001). The mutation, which ...