Pitt-Hopkins-like syndrome 2

General Information (adopted from Orphanet):

Synonyms, Signs: PTHSL2
Number of Symptoms 39
OrphanetNr:
OMIM Id: 614325
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases - PMID: 30873608 [IBIS]
Inheritance: Autosomal recessive
- PMID: 30873608 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0001357) Plagiocephaly 30873608 IBIS 106 / 7739
2
(HPO:0000248) Brachycephaly 30873608 IBIS 222 / 7739
3
(HPO:0000307) Pointed chin 30873608 IBIS 45 / 7739
4
(HPO:0000219) Thin upper lip vermilion 30873608 IBIS 112 / 7739
5
(HPO:0000303) Mandibular prognathia 30873608 IBIS 179 / 7739
6
(HPO:0100876) Infra-orbital crease 30873608 IBIS 4 / 7739
7
(HPO:0002057) Prominent glabella 30873608 IBIS 8 / 7739
8
(HPO:0000369) Low-set ears 30873608 IBIS 372 / 7739
9
(HPO:0009890) High anterior hairline 30873608 IBIS 10 / 7739
10
(HPO:0002007) Frontal bossing 30873608 IBIS 366 / 7739
11
(HPO:0000506) Telecanthus 30873608 IBIS 156 / 7739
12
(HPO:0005280) Depressed nasal bridge 30873608 IBIS 381 / 7739
13
(HPO:0001999) Abnormal facial shape 30873608 IBIS 169 / 7739
14
(HPO:0012450) Chronic constipation 30873608 IBIS 10 / 7739
15
(HPO:0006979) Sleep-wake cycle disturbance 30873608 IBIS 5 / 7739
16
(HPO:0000733) Stereotypy 30873608 IBIS 58 / 7739
17
(HPO:0000750) Delayed speech and language development 30873608 IBIS 197 / 7739
18
(HPO:0002275) Poor motor coordination 30873608 IBIS 6 / 7739
19
(HPO:0002839) Urinary bladder sphincter dysfunction 30873608 IBIS 34 / 7739
20
(HPO:0012736) Profound global developmental delay 30873608 IBIS 3 / 7739
21
(HPO:0001319) Neonatal hypotonia 30873608 IBIS 101 / 7739
22
(HPO:0001324) Muscle weakness 30873608 IBIS 859 / 7739
23
(HPO:0001558) Decreased fetal movement 30873608 IBIS 74 / 7739
24
(HPO:0002307) Drooling 43 / 7739
25
(HPO:0000154) Wide mouth 137 / 7739
26
(HPO:0010808) Protruding tongue 28 / 7739
27
(HPO:0000486) Strabismus 576 / 7739
28
(HPO:0002136) Broad-based gait rare [HPO:skoehler] 30 / 7739
29
(HPO:0200134) Epileptic encephalopathy common [HPO:skoehler] 42 / 7739
30
(HPO:0010864) Intellectual disability, severe 120 / 7739
31
(HPO:0002650) Scoliosis 705 / 7739
32
(HPO:0011968) Feeding difficulties 240 / 7739
33
(HPO:0002020) Gastroesophageal reflux 101 / 7739
34
(HPO:0002019) Constipation 194 / 7739
35
(HPO:0001642) Pulmonic stenosis 89 / 7739
36
(HPO:0002883) Hyperventilation 10 / 7739
37
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
38
(HPO:0010547) Muscle flaccidity 466 / 7739
39
(HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

NRXN1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zweier et al. (2009) reported an 18-year-old girl with a mental retardation syndrome resembling Pitt-Hopkins syndrome (PTHS; 610954). She had normal growth parameters but severe mental retardation, acquired walking at age 2 years, and showed developmental regression after the ...
Molecular genetics OMIM In a girl with Pitt-Hopkins-like syndrome-2, Zweier et al. (2009) identified compound heterozygosity for 2 mutations in the NRXN1 gene (600565.0001 and 600565.0002).

In 2 sisters with a severe early-onset mental retardation syndrome with severe epilepsy, Harrison ...