Other names for 4H syndrome: Ataxia, Hypodontia and Hypomyelination (AHH) Ataxia, delayed dentition and Hypomyelination (ADD) Pol III – related Leukodystrophy [leukodystrophyresourceresearch.org]

Other names for 4H syndrome Ataxia, hypodontia and hypomyelination (AHH) Ataxia, delayed dentition and hypomyelination (ADDH) [ulf.org]

[…] of teeth) is delayed, and the first teeth to erupt are the deciduous molars, not the incisors as usual. [leukodystrophyresourceresearch.org]

Homozygosity whole-genome mapping allowed the localization of a new locus within the short arm of chromosome 19 (19p13). [pnas.org]

He had a normal sense of smell and showed no abnormal eye movements, no color blindness, and no renal or craniofacial abnormalities. Three brothers had similar clinical features. [pnas.org]

These include a failure of one kidney to develop (unilateral renal agenesis), abnormalities of bones in the fingers or toes, a cleft lip with or without an opening in the roof of the mouth ( a cleft palate ), abnormal eye movements, hearing loss, and [ghr.nlm.nih.gov]

Type 2 diabetics with hypogonadism who receive testosterone therapy have shown improved insulin sensitivity, decreased waist circumference, and increased libido. [endocrineweb.com]

Neurological symptoms include: Late walking Early-onset ataxia (problems with balance and fine motor skills) Deterioration of ataxia with infections with complete or partial recovery Slow progression of ataxia over time Dysarthria (speech is difficult [leukodystrophyresourceresearch.org]

Conclusions: Albeit defined clinically by the combination of spinocerebellar ataxia, chorioretinal degeneration and hypogonadotropic hypogonadism, BNS varies substantially in disease onset, clinical presentation and progression. [neurology.org]

The onset of ataxia was similar to her older sibs. [jmg.bmj.com]

Other names for 4H syndrome Ataxia, hypodontia and hypomyelination (AHH) Ataxia, delayed dentition and hypomyelination (ADDH) [ulf.org]

[…] pituitary gland Approximate Synonyms Abnormal prolactin Anterior pituitary disorder Anterior pituitary hormone deficiency Atypical ichthyosis vulgaris with hypogonadism Decreased hormone secretion Disorder of anterior pituitary Early onset cerebellar ataxia [icd9data.com]

Both our two index patients and the previously published cases propose that the clinical presentation of BNS is variable regarding disease severity, age (range 1-40y) and clinical symptoms (cerebellar ataxia 38[percnt]; vision loss 36[percnt]; delayed [neurology.org]

Familial hypogonadotrophic eunuchoidism with cerebellar ataxia. J Clin Endocrinol 1963 ; 23 : 107 –15. Berciano J, Amado JA, Freijanes J, Rebollo M, Vaquero A. [jmg.bmj.com]

ataxia with hypogonadism Female hypogonadotropic hypogonadism Female infertility due to pituitary disorder Female infertility of pituitary origin Follicle stimulating hormone deficiency FSH - follicle stimulating hormone deficiency Gonadotroph hyperplasia [icd9data.com]

Neurological symptoms include: Late walking Early-onset ataxia (problems with balance and fine motor skills) Deterioration of ataxia with infections with complete or partial recovery Slow progression of ataxia over time Dysarthria (speech is difficult [leukodystrophyresourceresearch.org]

They include microphallus (up to 65%), cryptorchidism (up to 73%), hearing loss ( 30%), renal agenesis, synkinesis (the involuntary movement of one hand when the other is moved or mirror movement), cleft lip with or without palate (13–14%), dental agenesis [clinicaladvisor.com]

Metastin is also believed to control the migration of trophoblast cells ( 29 ). However, it is unknown whether these features are relevant to the mechanisms leading to IHH in our patients. [pnas.org]