Cognitive impairment, and Delayed puberty

Diseases related with Cognitive impairment and Delayed puberty

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Delayed puberty that can help you solving undiagnosed cases.


Top matches:

Low match BOUCHER-NEUHAUSER SYNDROME; BNHS


Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

Low match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Low match ANE SYNDROME


ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

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Other less relevant matches:

Low match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Low match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Low match HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME


Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Delayed puberty

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Hearing impairment Gait ataxia Nystagmus Cerebellar atrophy Short stature Peripheral axonal neuropathy Ophthalmoplegia Spasticity Sensorineural hearing impairment Progressive cerebellar ataxia Tremor Hypothyroidism Diabetes mellitus Delayed menarche Retinal atrophy Glaucoma Hypogonadotrophic hypogonadism Obesity Optic atrophy Distal amyotrophy Infertility Motor delay Abnormal facial shape Alopecia Hallucinations

Rare Symptoms - Less than 30% cases


Type II diabetes mellitus Hypodontia Pallor Dementia Diabetes insipidus Motor deterioration Gynecomastia Myopathy Severe short stature Male hypogonadism Babinski sign Hypoglycemia Postural tremor Reduced number of teeth Growth hormone deficiency Hypoplasia of penis Delayed eruption of teeth Growth delay Cerebral cortical atrophy Horizontal nystagmus Cerebellar hypoplasia Sensory axonal neuropathy Hypoplasia of the corpus callosum Dysphagia Hyperreflexia Global developmental delay Titubation Sensory neuropathy Dysmetria Rod-cone dystrophy Mental deterioration Respiratory insufficiency Failure to thrive Diarrhea Abnormal upper motor neuron morphology Psychosis Chorioretinal atrophy Pancreatitis Primary amenorrhea Intention tremor Amenorrhea Progressive visual loss Unsteady gait Memory impairment Spastic paraplegia Paraplegia Hyporeflexia Visual loss Visual impairment Skeletal muscle atrophy Areflexia Behavioral abnormality Constipation Developmental regression Feeding difficulties in infancy Joint stiffness Malabsorption Central apnea Corpus callosum atrophy Nephropathy Recurrent urinary tract infections Dysuria Sleep disturbance Polydipsia Saccadic smooth pursuit Abnormality of the urinary system Ulcerative colitis Speech apraxia Abnormal autonomic nervous system physiology Impaired proprioception Gastrointestinal hemorrhage Iridocyclitis Choroideremia Cardiomyopathy Sparse scalp hair Micropenis Abnormality of the sella turcica Sparse hair Distal muscle weakness Small for gestational age Retinal degeneration Thick eyebrow Pigmentary retinopathy Parietal cortical atrophy Clumsiness Anemia Long eyelashes Old-aged sensorineural hearing impairment Progressive gait ataxia Recurrent hypoglycemia Alopecia areata Head tremor Long eyebrows Abnormal involuntary eye movements Central heterochromia Gastric ulcer Myoclonus Hypoplasia of the pons Limb ataxia Oculomotor apraxia Type I diabetes mellitus Increased body weight Hypercholesterolemia Short long bone Keratitis High pitched voice Truncal obesity Truncal ataxia External genital hypoplasia Prematurely aged appearance Proportionate short stature Underdeveloped supraorbital ridges Frontal bossing Lower limb spasticity Abnormality of the elbow Concave nasal ridge Postural instability Arachnodactyly Immune dysregulation Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Neurological speech impairment Rigidity Lymphoid interstitial pneumonia Difficulty walking Gait disturbance External ophthalmoplegia Adducted thumb Abnormality of mesentery morphology Microdontia Hypertonia Micrognathia Brachydactyly Intrauterine growth retardation Respiratory distress Progeroid facial appearance Recurrent infections Delayed skeletal maturation Pneumonia Prominent forehead High forehead Oligomenorrhea Deeply set eye Eczema Lymphopenia Blue sclerae Hand tremor Depressed nasal ridge Uveitis Hyperactive deep tendon reflexes Colitis Osteoarthritis Abnormal lung morphology Chronic diarrhea Hypohidrosis Short toe Ankle clonus Gaze-evoked nystagmus Neoplasm Severe sensorineural hearing impairment Cryptorchidism Carious teeth Intrahepatic cholestasis Echolalia Enuresis Cerebral edema Mania Delirium Hypoargininemia Microcephaly Flexion contracture Intellectual disability, severe Kyphoscoliosis Hyperpigmentation of the skin Hepatocellular carcinoma Melanocytic nevus Adrenal insufficiency Reduced subcutaneous adipose tissue Upper motor neuron dysfunction Adrenocorticotropic hormone deficiency Ulnar deviation of the hand Central adrenal insufficiency Ulnar deviation of the hand or of fingers of the hand Compensated hypothyroidism Depressivity Autism Anxiety Delusions Insomnia Autistic behavior Aggressive behavior Abnormality of metabolism/homeostasis Photophobia Retinal dystrophy Scanning speech Chorioretinal dystrophy Spinocerebellar atrophy Edema Vomiting Hyperactivity Elevated hepatic transaminase Carcinoma Irritability Drowsiness Abnormality of the liver Lethargy Confusion Hepatic steatosis Coma Hypertriglyceridemia Cholestasis Decreased liver function Hepatic fibrosis Hyperammonemia Hypoalbuminemia Restlessness Abnormality of the pinna Retinopathy Muscle weakness Abnormal pyramidal sign Gonadal dysgenesis Increased circulating gonadotropin level Amelogenesis imperfecta Decreased serum testosterone level Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Myopia Ventriculomegaly Abnormality of the dentition Dystonia Abnormal cerebellum morphology Spastic diplegia Focal-onset seizure Peripheral demyelination High myopia Leukodystrophy Drooling Oligodontia CNS hypomyelination Dysdiadochokinesis Focal impaired awareness seizure Natal tooth Foam cells Hypometric saccades Secondary amenorrhea Hammertoe Bilateral sensorineural hearing impairment Primary gonadal insufficiency Progressive hearing impairment Schizophrenia Congenital sensorineural hearing impairment Glucose intolerance Abnormality of color vision Scotoma Optic neuropathy Severe vision loss Severe postnatal growth retardation Gastrointestinal dysmotility Abnormality of the upper urinary tract Central diabetes insipidus Moderate hearing impairment Bilateral ptosis Scoliosis Ptosis High palate Talipes equinovarus Short neck Intellectual disability, mild Pes cavus Osteoporosis Abnormality of the nervous system Polyneuropathy Sensorimotor neuropathy Hyperkinesis Abnormal motor evoked potentials



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