Cognitive impairment, and Micropenis

Diseases related with Cognitive impairment and Micropenis

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


Top matches:

Medium match BARDET-BIEDL SYNDROME 8; BBS8


BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 8; BBS8

Medium match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

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Other less relevant matches:

Medium match WEST SYNDROME


West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Medium 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

Medium match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Medium match ALG12-CDG


ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Top 5 symptoms//phenotypes associated to Cognitive impairment and Micropenis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Hearing impairment Cerebellar hypoplasia Hypogonadism Intellectual disability, severe Microcephaly Strabismus Delayed speech and language development Ventriculomegaly Lissencephaly Gait ataxia Spasticity Hypoplasia of the corpus callosum Rod-cone dystrophy Obesity Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Tremor Failure to thrive Short stature Hypocalcemia Global brain atrophy Hypothyroidism Poor speech Developmental regression Abnormality of the nervous system Progressive microcephaly Hyporeflexia Muscle weakness Dilatation Focal impaired awareness seizure Scrotal hypoplasia Cerebellar vermis hypoplasia Focal-onset seizure Pigmentary retinopathy Short philtrum Neonatal hypotonia Cerebral cortical atrophy Frontal bossing Cerebellar atrophy Motor delay Muscular hypotonia Abnormal facial shape Nystagmus Intention tremor Edema Retinopathy Dysmetria Hypoglycemia Immunodeficiency Brain atrophy Peripheral neuropathy Congenital muscular dystrophy Muscular dystrophy Retinal degeneration Renal cyst Situs inversus totalis Heterotopia Elevated serum creatine phosphokinase Renal dysplasia Blindness Postaxial polydactyly Neurological speech impairment Hydrocephalus Stage 5 chronic kidney disease Hypospadias External genital hypoplasia Polydactyly Cortical dysplasia Ptosis Chorioretinal atrophy Retinal atrophy Abnormality of immune system physiology Short humerus Recurrent hypoglycemia Progressive gait ataxia Central heterochromia Long eyebrows Choroideremia Hypoplasia of the radius Alopecia areata IgG deficiency Titubation Epiphyseal dysplasia Short tibia Sensory axonal neuropathy Prolonged partial thromboplastin time Generalized edema Pallor Sparse hair Distal muscle weakness Small for gestational age Spastic paraplegia Delayed puberty Paraplegia Peripheral axonal neuropathy Distal amyotrophy Thick eyebrow Hypogonadotrophic hypogonadism Progressive cerebellar ataxia Growth hormone deficiency Hypoplasia of penis Short femur Sparse scalp hair Clumsiness Rhizomelia Long eyelashes Gynecomastia Horizontal nystagmus Sandal gap Abnormality of the periventricular white matter Proteinuria Hyperlordosis Myopia Respiratory insufficiency Myopathy Midface retrusion Areflexia Cardiomyopathy Abnormal heart morphology Respiratory failure Proximal muscle weakness Facial palsy Talipes equinovarus Flexion contracture Hip dislocation Abnormality of the cerebral white matter Generalized muscle weakness Feeding difficulties Macroglossia Left ventricular systolic dysfunction Ventricular hypertrophy Open mouth Left ventricular hypertrophy Skeletal muscle hypertrophy Recurrent respiratory infections Scoliosis Mental deterioration Respiratory tract infection Abnormality of the genital system Calf muscle hypertrophy Ichthyosis Nephrotic syndrome Decreased antibody level in blood Sepsis Epidermal acanthosis Hypertriglyceridemia Severe global developmental delay Lymphopenia Abnormality of the pinna Absent testis Recurrent bacterial infections Hypoalbuminemia Glomerulosclerosis Focal segmental glomerulosclerosis Adrenal insufficiency Primary adrenal insufficiency Primary hypothyroidism Skeletal dysplasia Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Limb undergrowth Hyperactivity Severe short stature Dystonia Anencephaly Retinal dysplasia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Low-set ears Epicanthus Hyperreflexia Dysphagia Hypertonia Encephalopathy Absent septum pellucidum Myoclonus Dyspnea Muscular hypotonia of the trunk Dyskinesia Generalized myoclonic seizures Chorea Epileptic encephalopathy Hypsarrhythmia Intellectual disability, profound Status epilepticus Occipital encephalocele Hypoplasia of the brainstem Choreoathetosis Postaxial foot polydactyly Brachycephaly Asthma Hydrometrocolpos Brachydactyly Renal insufficiency Cone/cone-rod dystrophy Anosmia Polydipsia Polyuria Foot polydactyly Undetectable electroretinogram Severe muscular hypotonia Hyposmia Bilateral postaxial polydactyly Mesoaxial polydactyly Y-shaped metacarpals Agenesis of corpus callosum Hydronephrosis Dandy-Walker malformation Decreased testicular size Encephalocele Opacification of the corneal stroma Tetraparesis Spastic tetraparesis Alopecia Prominent nose Autism Mandibular prognathia Macrotia Thin upper lip vermilion Deeply set eye Intellectual disability, moderate Attention deficit hyperactivity disorder Long face Abnormal cerebellum morphology Triangular face Hypotelorism Macrocephaly Prominent supraorbital ridges Long nose Poor eye contact Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Growth delay Prominent forehead Aplasia of the inferior half of the cerebellar vermis Hyperkinesis Abnormal pyramidal sign Infantile spasms Muscle fibrillation Epileptic spasms Developmental stagnation Spastic ataxia Abnormality of skin morphology Dysarthria Kyphosis Absent speech Coarse facial features Short palm Atrophy of the dentate nucleus Hirsutism Inability to walk Small hand Short foot Truncal ataxia Intellectual disability, progressive Dysdiadochokinesis Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Butterfly vertebrae



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